Variant report

Variant	rs60900316
Chromosome Location	chr6:31704922-31704923
allele	C/T
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	POLR2A	chr6:31703182-31707401	HepG2	liver:	n/a	n/a
2	HEY1	chr6:31701095-31704957	K562	blood:	n/a	n/a
3	MBD4	chr6:31703609-31704959	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:31702932-31705096	SK-N-MC	brain:	n/a	n/a
5	TEAD4	chr6:31700915-31705053	K562	blood:	n/a	n/a
6	HEY1	chr6:31703913-31705107	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:31704710-31705053	K562	blood:	n/a	n/a
8	HEY1	chr6:31700825-31708048	HepG2	liver:	n/a	n/a
9	MTA3	chr6:31702012-31705090	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:31701223-31706870	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:31701382-31704948	GM12892	blood:	n/a	n/a
12	NFIC	chr6:31703922-31705009	HepG2	liver:	n/a	n/a
13	CBX3	chr6:31701563-31704989	K562	blood:	n/a	n/a
14	ELF1	chr6:31703620-31704980	K562	blood:	n/a	chr6:31704090-31704101
15	EP300	chr6:31704639-31704922	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:31701490-31705009	GM12892	blood:	n/a	n/a
17	MAX	chr6:31701666-31705012	K562	blood:	n/a	chr6:31703088-31703098 chr6:31703918-31703925
18	POLR2A	chr6:31701885-31704999	HL-60	blood:	n/a	n/a
19	POLR2A	chr6:31701163-31706813	GM12892	blood:	n/a	n/a
20	BHLHE40	chr6:31701597-31704935	K562	blood:	n/a	n/a
21	NR2F2	chr6:31701553-31704965	K562	blood:	n/a	n/a
22	POLR2A	chr6:31704090-31706565	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:31701099-31707232	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:31701080-31705000	K562	blood:	n/a	n/a
25	STAT5A	chr6:31701483-31705084	GM12878	blood:	n/a	chr6:31703996-31704010 chr6:31704002-31704010 chr6:31701560-31701574 chr6:31702933-31702945 chr6:31703998-31704007 chr6:31701563-31701571 chr6:31704120-31704132 chr6:31702788-31702800 chr6:31703999-31704008
26	TEAD4	chr6:31701550-31704977	K562	blood:	n/a	n/a
27	POLR2A	chr6:31701375-31705093	HepG2	liver:	n/a	n/a
28	HEY1	chr6:31700873-31704994	K562	blood:	n/a	n/a
29	POLR2A	chr6:31700819-31705024	K562	blood:	n/a	n/a
30	FOSL1	chr6:31703243-31704961	K562	blood:	n/a	chr6:31704359-31704368 chr6:31704313-31704321 chr6:31704311-31704323 chr6:31704312-31704322
31	PML	chr6:31703535-31704937	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:31704030-31706652	HepG2	liver:	n/a	n/a
33	CEBPD	chr6:31704593-31704984	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:31701501-31704959	K562	blood:	n/a	n/a
35	FOSL2	chr6:31703823-31704980	HepG2	liver:	n/a	chr6:31704359-31704368 chr6:31704313-31704321 chr6:31704311-31704323 chr6:31704312-31704323 chr6:31704312-31704322
36	POLR2A	chr6:31701786-31705019	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr6:31703557-31704929	GM18526	blood:	n/a	n/a
38	MYBL2	chr6:31703089-31705020	HepG2	liver:	n/a	n/a
39	JUN	chr6:31700849-31705051	K562	blood:	n/a	chr6:31702569-31702582 chr6:31704359-31704368 chr6:31704313-31704321 chr6:31701456-31701465 chr6:31704311-31704323 chr6:31704312-31704322
40	POLR2A	chr6:31703513-31705018	GM18951	blood:	n/a	n/a
41	POLR2A	chr6:31702332-31704934	NB4	blood:	n/a	n/a
42	MYBL2	chr6:31703784-31708238	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:31700959-31705060	HL-60	blood:	n/a	n/a
44	MXI1	chr6:31701913-31705003	IMR90	lung:	n/a	chr6:31702261-31702270
45	POLR2A	chr6:31701392-31705064	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:31704662-31705009	HepG2	liver:	n/a	n/a
47	RXRA	chr6:31704623-31705839	HepG2	liver:	n/a	chr6:31705396-31705409 chr6:31705396-31705409 chr6:31705392-31705412 chr6:31704706-31704715 chr6:31705396-31705410
48	POLR2A	chr6:31703557-31704928	GM19193	blood:	n/a	n/a
49	NR2F2	chr6:31700905-31709070	K562	blood:	n/a	n/a
50	POLR2A	chr6:31700930-31705048	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31630138..31633537-chr6:31702184..31707226,4	MCF-7	breast:
2	chr6:31647222..31652409-chr6:31701244..31706736,11	MCF-7	breast:
3	chr6:31704202..31707346-chr6:32935794..32939096,3	K562	blood:
4	chr6:31637076..31639095-chr6:31704178..31706177,2	MCF-7	breast:
5	chr6:31704043..31706840-chr6:31719670..31721434,2	MCF-7	breast:
6	chr6:31701400..31704942-chr6:31911756..31915207,3	MCF-7	breast:
7	chr6:31680344..31682010-chr6:31704072..31705606,2	MCF-7	breast:
8	chr6:31510116..31512657-chr6:31703324..31705930,3	K562	blood:
9	chr6:31702916..31705480-chr6:31939951..31941559,2	MCF-7	breast:
10	chr6:31632734..31637057-chr6:31703384..31706202,6	MCF-7	breast:
11	chr6:31703927..31705459-chr6:32946540..32948305,2	K562	blood:
12	chr6:31646441..31651407-chr6:31704606..31708985,8	MCF-7	breast:
13	chr6:31690682..31694598-chr6:31702821..31705560,3	MCF-7	breast:
14	chr6:31668441..31672326-chr6:31702683..31707609,7	MCF-7	breast:
15	chr6:31702549..31706090-chr6:31802474..31805993,4	MCF-7	breast:
16	chr6:31656167..31662607-chr6:31701760..31709122,7	MCF-7	breast:
17	chr6:31685534..31689967-chr6:31702544..31705523,6	MCF-7	breast:
18	chr6:31703656..31706945-chr6:31827756..31831598,5	MCF-7	breast:
19	chr6:31704899..31707815-chr6:31914437..31917102,2	MCF-7	breast:
20	chr6:31587220..31590773-chr6:31700977..31706290,6	MCF-7	breast:
21	chr6:31701251..31705281-chr6:31936091..31940341,4	K562	blood:
22	chr6:31508752..31512657-chr6:31701865..31705930,6	K562	blood:

Variant related genes	Relation type
CLIC1	TF binding region
MSH5	TF binding region
MSH5-SAPCD1	TF binding region
ENSG00000204422	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000266776	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204421	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000201207	Chromatin interaction
ENSG00000255552	Chromatin interaction
ENSG00000243649	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000240053	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204420	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204344	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11964779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11965323	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11966331	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11967206	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254083	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295666	0.83[ASN][1000 genomes]
rs2295667	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28399971	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34453162	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3895064	1.00[ASN][1000 genomes]
rs4713482	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4713492	1.00[ASN][1000 genomes]
rs4947252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947329	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4947330	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56662332	0.92[AFR][1000 genomes]
rs59002496	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59114240	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60149397	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60559550	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73398259	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7382084	1.00[EUR][1000 genomes]
rs9800604	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS 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	326 gene(s)	inside rSNPs	diseases
13	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
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription 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	257 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31702200-31705000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr6:31702200-31705000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:31702200-31706400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr6:31702400-31705600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:31702400-31706400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr6:31702400-31708800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr6:31703800-31706400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr6:31703800-31706600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:31703800-31706800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:31704000-31706200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr6:31704200-31705000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:31704200-31706200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:31704200-31706400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:31704200-31709000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:31704200-31709000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:31704400-31705000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:31704400-31705000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:31704400-31705000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:31704400-31705000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:31704400-31705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:31704400-31705000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:31704400-31705000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:31704400-31705000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:31704400-31705000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:31704400-31705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:31704400-31705000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:31704400-31705000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr6:31704400-31705000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:31704400-31705000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:31704400-31705000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:31704400-31705000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:31704400-31705000	Flanking Active TSS	Colonic Mucosa	Colon
33	chr6:31704400-31705000	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr6:31704400-31705000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr6:31704400-31705000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr6:31704400-31705000	Flanking Active TSS	Fetal Lung	lung
37	chr6:31704400-31705000	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr6:31704400-31705000	Flanking Active TSS	Placenta	Placenta
39	chr6:31704400-31705000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr6:31704400-31705000	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr6:31704400-31705000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr6:31704400-31705000	Flanking Active TSS	A549	lung
43	chr6:31704400-31705000	Flanking Active TSS	Hela-S3	cervix
44	chr6:31704400-31705000	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr6:31704400-31705000	Flanking Active TSS	HSMM	muscle
46	chr6:31704400-31705000	Flanking Active TSS	HUVEC	blood vessel
47	chr6:31704400-31705000	Flanking Active TSS	K562	blood
48	chr6:31704400-31705000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr6:31704400-31705000	Flanking Active TSS	Osteobl	bone
50	chr6:31704400-31705200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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