Variant report

Variant	rs2734574
Chromosome Location	chr6:31493888-31493889
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr6:31493636-31493925	K562	blood:	n/a	n/a
2	REST	chr6:31493637-31493939	PFSK-1	brain:	n/a	chr6:31493809-31493818
3	POLR2A	chr6:31493737-31494401	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr6:31493809-31494137	HUVEC	blood vessel:	n/a	n/a
5	MAFK	chr6:31493796-31493979	K562	blood:	n/a	n/a
6	TEAD4	chr6:31493294-31494015	K562	blood:	n/a	n/a
7	JUND	chr6:31493359-31493911	K562	blood:	n/a	chr6:31493528-31493539
8	FOS	chr6:31493393-31494484	HUVEC	blood vessel:	n/a	n/a
9	MAX	chr6:31493819-31494009	K562	blood:	n/a	n/a
10	GATA1	chr6:31493260-31493957	PBDE	blood:	n/a	n/a
11	REST	chr6:31493676-31493928	K562	blood:	n/a	chr6:31493809-31493818
12	GATA2	chr6:31493512-31494325	HUVEC	blood vessel:	n/a	chr6:31494165-31494173
13	MAX	chr6:31493587-31494117	K562	blood:	n/a	n/a
14	JUN	chr6:31493351-31494208	K562	blood:	n/a	n/a
15	UBTF	chr6:31493662-31494006	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31489600..31491334-chr6:31492145..31494372,2	MCF-7	breast:
2	chr6:31482893..31484658-chr6:31493217..31495017,2	MCF-7	breast:
3	chr6:31462071..31463732-chr6:31493502..31495152,2	K562	blood:
4	chr6:31190775..31192642-chr6:31491584..31493924,2	K562	blood:
5	chr6:31461159..31464326-chr6:31493652..31499334,8	K562	blood:
6	chr6:31472905..31475508-chr6:31491079..31494071,2	MCF-7	breast:
7	chr6:31477252..31479047-chr6:31492557..31494938,2	K562	blood:

No data

Variant related genes	Relation type
MCCD1	TF binding region
RPL15P4	TF binding region
ENSG00000204516	Chromatin interaction
ENSG00000256851	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3093987	0.84[AFR][1000 genomes]
rs3130629	0.86[AMR][1000 genomes]
rs3132455	0.83[AFR][1000 genomes]
rs6924459	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
4	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
5	esv3381377	chr6:31192213-31498578	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
6	esv3340592	chr6:31192248-31498535	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
7	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
8	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
9	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
10	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
11	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
12	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	378 gene(s)	inside rSNPs	diseases
13	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
14	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
15	nsv1018463	chr6:31337336-31525275	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
16	nsv538189	chr6:31337336-31525275	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
17	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
18	esv2752115	chr6:31352880-31498721	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
19	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
20	esv2752119	chr6:31359621-31498521	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
21	nsv432874	chr6:31379821-31498521	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
22	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
23	nsv432877	chr6:31412961-31528690	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
24	nsv1025961	chr6:31448533-31497835	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
25	nsv1021578	chr6:31448533-31498737	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
26	nsv884414	chr6:31458633-31498497	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
27	nsv884415	chr6:31458633-31501413	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
28	nsv884416	chr6:31488145-31497399	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2734574	DEF6	cis	parietal	SCAN
rs2734574	LST1	cis	multi-tissue	Pritchard
rs2734574	HCG22	cis	lymphoblastoid	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31467400-31506600	Weak transcription	Right Atrium	heart
2	chr6:31478200-31497200	Weak transcription	A549	lung
3	chr6:31478400-31497200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:31478400-31497800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:31478400-31498200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:31478600-31498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:31479200-31497400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:31479200-31497400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:31479200-31497600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:31479400-31495800	Weak transcription	Thymus	Thymus
11	chr6:31479400-31496400	Weak transcription	Fetal Thymus	thymus
12	chr6:31479400-31497000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:31479400-31497200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:31479400-31497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:31479400-31497400	Weak transcription	Spleen	Spleen
16	chr6:31479600-31497600	Weak transcription	GM12878-XiMat	blood
17	chr6:31481800-31496800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:31484400-31497200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:31485400-31497200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:31485400-31497200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:31490000-31497600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:31492200-31496000	Weak transcription	Fetal Brain Female	brain
23	chr6:31492800-31495400	Enhancers	HUVEC	blood vessel
24	chr6:31492800-31497400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:31492800-31497400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr6:31493000-31497000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:31493200-31494800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:31493400-31494000	Enhancers	Duodenum Mucosa	Duodenum
29	chr6:31493400-31494200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:31493400-31495000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:31493400-31495400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:31493400-31497200	Weak transcription	Fetal Intestine Small	intestine
33	chr6:31493600-31494000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:31493600-31494000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:31493600-31494000	Enhancers	Esophagus	oesophagus
36	chr6:31493600-31494000	Enhancers	Pancreas	Pancrea
37	chr6:31493600-31494000	Enhancers	HSMM	muscle
38	chr6:31493600-31494000	Flanking Active TSS	K562	blood
39	chr6:31493600-31494200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:31493600-31494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:31493600-31494200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:31493600-31494200	Enhancers	Gastric	stomach
43	chr6:31493600-31494200	Enhancers	Stomach Mucosa	stomach
44	chr6:31493600-31494200	Enhancers	Hela-S3	cervix
45	chr6:31493600-31494200	Enhancers	HMEC	breast
46	chr6:31493600-31494200	Enhancers	NH-A	brain
47	chr6:31493600-31494200	Enhancers	NHDF-Ad	bronchial
48	chr6:31493600-31494400	Enhancers	Lung	lung
49	chr6:31493600-31494400	Enhancers	HSMMtube	muscle
50	chr6:31493600-31494400	Enhancers	NHEK	skin

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