Variant report

Variant	rs3134604
Chromosome Location	chr6:32122386-32122387
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCC1	chr6:32120325-32122905	Hela-S3	cervix:	n/a	n/a
2	JUND	chr6:32120617-32123063	SK-N-SH	brain:	n/a	chr6:32121238-32121249
3	POLR2A	chr6:32120690-32122747	K562	blood:	n/a	n/a
4	TAF1	chr6:32121134-32122639	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:32120299-32122815	K562	blood:	n/a	n/a
6	POLR2A	chr6:32121765-32122761	GM12892	blood:	n/a	n/a
7	MXI1	chr6:32121093-32122781	HepG2	liver:	n/a	n/a
8	EGR1	chr6:32121464-32122691	K562	blood:	n/a	chr6:32122193-32122208
9	POLR2A	chr6:32121073-32122702	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr6:32121402-32122714	K562	blood:	n/a	n/a
11	POLR2A	chr6:32122352-32122611	HCT-116	colon:	n/a	n/a
12	POLR2A	chr6:32120702-32122685	K562	blood:	n/a	n/a
13	EP300	chr6:32122197-32122572	GM12878	blood:	n/a	n/a
14	BRCA1	chr6:32121575-32122726	HepG2	liver:	n/a	n/a
15	MAX	chr6:32121753-32122669	A549	lung:	n/a	n/a
16	MYC	chr6:32122133-32122678	MCF-7	breast:	n/a	n/a
17	MAX	chr6:32120688-32122917	HepG2	liver:	n/a	chr6:32122674-32122683
18	CTCF	chr6:32122383-32122688	NHEK	skin:	n/a	n/a
19	TCF12	chr6:32121568-32122662	ECC-1	luminal epithelium:	n/a	chr6:32122567-32122574
20	POLR2A	chr6:32122365-32122720	H1-hESC	embryonic stem cell:	n/a	n/a
21	GTF2B	chr6:32121088-32122432	K562	blood:	n/a	n/a
22	CTCF	chr6:32122361-32122726	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr6:32122192-32122796	HepG2	liver:	n/a	chr6:32122739-32122753 chr6:32122560-32122570 chr6:32122662-32122676
24	ZBTB7A	chr6:32121379-32122760	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr6:32121598-32122643	HepG2	liver:	n/a	n/a
26	MXI1	chr6:32120533-32123084	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr6:32120566-32123138	K562	blood:	n/a	n/a
28	POLR2A	chr6:32120794-32122722	K562	blood:	n/a	n/a
29	POLR2A	chr6:32120748-32122996	K562	blood:	n/a	n/a
30	POLR2A	chr6:32121180-32122463	HCT-116	colon:	n/a	n/a
31	KAP1	chr6:32121604-32122576	K562	blood:	n/a	chr6:32121853-32121861
32	ZEB1	chr6:32122285-32122686	GM12878	blood:	n/a	n/a
33	CREB1	chr6:32121026-32123000	HepG2	liver:	n/a	n/a
34	ZNF143	chr6:32121572-32122673	Hela-S3	cervix:	n/a	chr6:32121906-32121925
35	ZNF143	chr6:32121480-32122704	K562	blood:	n/a	chr6:32121906-32121925
36	MAX	chr6:32121502-32122800	ECC-1	luminal epithelium:	n/a	chr6:32122674-32122683
37	MAX	chr6:32121429-32122704	A549	lung:	n/a	chr6:32122674-32122683
38	CTCF	chr6:32122296-32122765	T-47D	breast:	n/a	n/a
39	EP300	chr6:32121514-32122617	HepG2	liver:	n/a	n/a
40	RAD21	chr6:32122338-32122708	H1-hESC	embryonic stem cell:	n/a	chr6:32122560-32122570 chr6:32122662-32122676
41	POLR2A	chr6:32121083-32122784	H1-neurons	neurons:	n/a	n/a
42	CREB1	chr6:32121548-32122739	GM12878	blood:	n/a	n/a
43	MAX	chr6:32121613-32122713	NB4	blood:	n/a	chr6:32122674-32122683
44	RAD21	chr6:32122283-32122758	SK-N-SH_RA	brain:	n/a	chr6:32122739-32122753 chr6:32122560-32122570 chr6:32122662-32122676
45	RAD21	chr6:32122226-32122802	H1-hESC	embryonic stem cell:	n/a	chr6:32122739-32122753 chr6:32122560-32122570 chr6:32122662-32122676
46	MAX	chr6:32121361-32122704	HepG2	liver:	n/a	chr6:32122674-32122683
47	POLR2A	chr6:32119917-32123405	K562	blood:	n/a	n/a
48	CTCF	chr6:32122319-32122729	H1-hESC	embryonic stem cell:	n/a	n/a
49	STAT5A	chr6:32121510-32122724	K562	blood:	n/a	chr6:32122621-32122632
50	PML	chr6:32120536-32122619	K562	blood:	n/a	chr6:32121853-32121861

No.	Distal block	Cell Line	Cell type
1	chr6:32092991..32098157-chr6:32120638..32123369,8	MCF-7	breast:
2	chr6:32120171..32123942-chr6:32124306..32127652,6	K562	blood:
3	chr6:32119715..32123835-chr6:32132075..32139187,7	MCF-7	breast:
4	chr6:32093127..32099788-chr6:32117635..32125818,23	K562	blood:
5	chr6:32075391..32078384-chr6:32120601..32122680,2	K562	blood:
6	chr6:31867782..31870627-chr6:32121344..32123906,2	K562	blood:
7	chr6:32121679..32122522-chr6:32162734..32163545,2	K562	blood:
8	chr6:32121385..32123700-chr6:32124923..32127275,2	MCF-7	breast:
9	chr6:32121547..32123431-chr6:32124624..32127315,2	MCF-7	breast:
10	chr6:32119236..32123483-chr6:32143856..32148114,6	MCF-7	breast:
11	chr6:32093545..32101236-chr6:32120105..32124952,17	MCF-7	breast:
12	chr6:32117996..32123374-chr6:32143500..32146983,4	MCF-7	breast:
13	chr6:32086044..32088268-chr6:32122261..32123962,3	MCF-7	breast:
14	chr6:32116953..32128256-chr6:32128373..32148325,54	K562	blood:
15	chr6:32122184..32124281-chr6:32133755..32136302,3	MCF-7	breast:
16	chr6:32112269..32118612-chr6:32118921..32122909,10	MCF-7	breast:
17	chr6:32120233..32126271-chr6:32158822..32166984,18	K562	blood:
18	chr6:32093775..32101330-chr6:32116233..32126080,28	K562	blood:
19	chr6:32085766..32089090-chr6:32120902..32124817,4	K562	blood:
20	chr6:32085563..32088758-chr6:32119743..32123007,4	K562	blood:

Variant related genes	Relation type
PPT2	TF binding region
PPT2-EGFL8	TF binding region
PRRT1	TF binding region
ENSG00000204366	Chromatin interaction
ENSG00000258388	Chromatin interaction
ENSG00000221988	Chromatin interaction
ENSG00000204315	Chromatin interaction
ENSG00000168477	Chromatin interaction
ENSG00000241404	Chromatin interaction
ENSG00000204308	Chromatin interaction
ENSG00000213654	Chromatin interaction
ENSG00000204301	Chromatin interaction
ENSG00000204310	Chromatin interaction
ENSG00000204314	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000213676	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1800684	0.85[EUR][1000 genomes]
rs204996	0.85[ASN][1000 genomes]
rs2853807	0.85[ASN][1000 genomes]
rs3117182	0.84[AMR][1000 genomes]
rs3117189	0.84[AMR][1000 genomes]
rs3130279	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130283	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130287	0.84[AMR][1000 genomes]
rs3130342	0.84[AMR][1000 genomes]
rs3130346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134603	0.96[EUR][1000 genomes]
rs3134943	0.82[EUR][1000 genomes]
rs3134954	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
3	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
4	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
5	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
6	nsv601961	chr6:31868322-32484368	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	esv2758043	chr6:31871512-32209113	Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
8	esv2759415	chr6:31871512-32209113	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
9	nsv601972	chr6:31947594-32484368	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv601975	chr6:31949352-32484368	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
11	nsv601976	chr6:31949352-32508887	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
12	nsv601977	chr6:31949352-32651056	Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
13	nsv601980	chr6:31950266-32484368	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv601982	chr6:31951207-32484368	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv601983	chr6:31951367-32484368	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	nsv601984	chr6:31951912-32484368	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	nsv601999	chr6:31952422-32484368	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv602000	chr6:31952422-32552416	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
19	nsv602015	chr6:31953467-32481507	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
20	nsv602016	chr6:31953467-32484368	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
21	nsv602017	chr6:31953467-32505730	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
22	nsv602018	chr6:31953467-32509985	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
23	nsv602019	chr6:31953467-32779803	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
24	nsv602029	chr6:31955572-32484368	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
25	nsv602035	chr6:31959480-32484368	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
26	nsv602036	chr6:31959878-32484368	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
27	nsv602052	chr6:31972034-32481507	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
28	nsv602053	chr6:31972034-32484368	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
29	nsv602054	chr6:31972034-32779803	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
30	nsv602086	chr6:31986320-32484368	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
31	nsv1024599	chr6:32007556-32481240	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
32	nsv830629	chr6:32043978-32189787	Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
33	nsv1033939	chr6:32048657-32196256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
34	nsv462876	chr6:32064726-32171683	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
35	nsv602104	chr6:32064726-32171683	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
36	nsv884701	chr6:32089549-32130329	Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
37	nsv884703	chr6:32112559-32123448	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
38	nsv884705	chr6:32116313-32122476	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
39	nsv884706	chr6:32116313-32146492	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3134604	HLA.DRB5	cis	multi-tissue	Pritchard
rs3134604	HLA-DRB1///LOC730415	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32118400-32122800	Active TSS	Aorta	Aorta
2	chr6:32119200-32122800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:32119400-32122400	Active TSS	Left Ventricle	heart
4	chr6:32119400-32123000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:32120400-32122400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:32120400-32122600	Active TSS	Brain Substantia Nigra	brain
7	chr6:32120600-32122400	Active TSS	Colonic Mucosa	Colon
8	chr6:32120600-32122600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:32120600-32122600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr6:32120600-32122600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:32120600-32122800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:32120600-32122800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:32120600-32122800	Active TSS	Right Atrium	heart
14	chr6:32120600-32122800	Active TSS	NHDF-Ad	bronchial
15	chr6:32120600-32123000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:32120600-32123000	Active TSS	Ovary	ovary
17	chr6:32120600-32123400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:32120600-32123400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:32120800-32122800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:32120800-32122800	Active TSS	Small Intestine	intestine
21	chr6:32120800-32123000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:32121000-32122400	Active TSS	HSMMtube	muscle
23	chr6:32121000-32122600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:32121000-32122600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:32121000-32122600	Active TSS	Brain Anterior Caudate	brain
26	chr6:32121000-32122600	Active TSS	Esophagus	oesophagus
27	chr6:32121000-32122600	Active TSS	Psoas Muscle	Psoas
28	chr6:32121000-32122600	Active TSS	Right Ventricle	heart
29	chr6:32121000-32122600	Bivalent/Poised TSS	HepG2	liver
30	chr6:32121000-32122800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:32121000-32122800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:32121000-32122800	Active TSS	Colon Smooth Muscle	Colon
33	chr6:32121000-32122800	Active TSS	HSMM	muscle
34	chr6:32121000-32123000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:32121000-32123000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr6:32121000-32123000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:32121000-32123400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr6:32121200-32122600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr6:32121200-32122600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr6:32121200-32122600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:32121200-32122600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:32121200-32122600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:32121200-32122600	Active TSS	Brain Hippocampus Middle	brain
44	chr6:32121200-32122600	Active TSS	Fetal Heart	heart
45	chr6:32121200-32122600	Active TSS	Fetal Intestine Large	intestine
46	chr6:32121200-32122600	Active TSS	Placenta Amnion	Placenta Amnion
47	chr6:32121200-32122600	Active TSS	Osteobl	bone
48	chr6:32121200-32122800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:32121200-32122800	Active TSS	Brain Angular Gyrus	brain
50	chr6:32121200-32122800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links