Variant report

Variant	rs73281529
Chromosome Location	chr7:26223606-26223607
allele	A/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	MAFK	chr7:26223371-26223647	HepG2	liver:	n/a	chr7:26223487-26223497
2	POLR2A	chr7:26223587-26223898	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:26221909-26223879	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:26222042-26224411	HL-60	blood:	n/a	n/a
5	JUND	chr7:26223190-26224166	T-47D	breast:	n/a	n/a
6	POLR2A	chr7:26221696-26237480	GM12878	blood:	n/a	n/a
7	ZBTB33	chr7:26223259-26223625	A549	lung:	n/a	chr7:26223429-26223438
8	POLR2A	chr7:26221696-26225862	GM12891	blood:	n/a	n/a
9	CHD2	chr7:26223306-26223714	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:26217795-26225797	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr7:26220749-26225822	U87	brain:	n/a	n/a
12	STAT5A	chr7:26222461-26229657	GM12878	blood:	n/a	chr7:26226794-26226803 chr7:26228964-26228972 chr7:26223224-26223231
13	BCL3	chr7:26217644-26229718	A549	lung:	n/a	chr7:26226946-26226953 chr7:26220505-26220512 chr7:26220601-26220614
14	CHD2	chr7:26223293-26224252	K562	blood:	n/a	n/a
15	POLR2A	chr7:26221642-26225481	HUVEC	blood vessel:	n/a	n/a
16	IRF1	chr7:26223356-26223627	K562	blood:	n/a	n/a
17	POLR2A	chr7:26222350-26225749	HepG2	liver:	n/a	n/a
18	JUND	chr7:26221736-26224256	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr7:26219131-26225818	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr7:26221828-26225720	HCT-116	colon:	n/a	n/a
21	POLR2A	chr7:26221884-26230903	GM12892	blood:	n/a	n/a
22	POLR2A	chr7:26222320-26223899	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFK	chr7:26223329-26223648	H1-hESC	embryonic stem cell:	n/a	chr7:26223487-26223497
24	POLR2A	chr7:26222302-26225680	K562	blood:	n/a	n/a
25	POLR2A	chr7:26217201-26229557	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:26221853-26225855	GM12892	blood:	n/a	n/a
27	PML	chr7:26223400-26225779	GM12878	blood:	n/a	n/a
28	MBD4	chr7:26222928-26225575	HepG2	liver:	n/a	n/a
29	CCNT2	chr7:26222480-26224193	K562	blood:	n/a	n/a
30	POLR2A	chr7:26221647-26225827	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:26223596-26223874	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF2	chr7:26222421-26224244	Hela-S3	cervix:	n/a	n/a
34	TCF12	chr7:26221957-26224442	A549	lung:	n/a	n/a
35	BCL3	chr7:26223456-26223940	K562	blood:	n/a	n/a
36	POLR2A	chr7:26223582-26223891	H1-neurons	neurons:	n/a	n/a
37	MAFF	chr7:26223269-26223830	K562	blood:	n/a	n/a
38	NFATC1	chr7:26222933-26229616	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:26220388-26231360	U87	brain:	n/a	n/a
40	POLR2A	chr7:26221839-26225801	HUVEC	blood vessel:	n/a	n/a
41	MAFK	chr7:26223346-26223679	HepG2	liver:	n/a	chr7:26223487-26223497
42	POLR2A	chr7:26221869-26230850	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr7:26221741-26231449	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:26221775-26225722	GM19099	blood:	n/a	n/a
45	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
46	POLR2A	chr7:26221748-26225717	PBDE	blood:	n/a	n/a
47	POLR2A	chr7:26220997-26230627	IMR90	lung:	n/a	n/a
48	POLR2A	chr7:26220755-26231434	U87	brain:	n/a	n/a
49	POLR2A	chr7:26221822-26225754	GM12891	blood:	n/a	n/a
50	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26209588..26214635-chr7:26216506..26225474,18	K562	blood:
2	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
3	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
4	chr7:26191421..26193047-chr7:26221749..26224345,2	MCF-7	breast:
5	chr7:26129567..26132077-chr7:26220760..26223665,4	MCF-7	breast:
6	chr7:26190764..26192860-chr7:26222610..26225578,2	MCF-7	breast:

Variant related genes	Relation type
NFE2L3	TF binding region
ENSG00000273237	Chromatin interaction
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11971108	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971320	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971402	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972057	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974685	1.00[ASN][1000 genomes]
rs11975011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976883	0.84[EUR][1000 genomes]
rs11977822	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980825	1.00[ASN][1000 genomes]
rs17321514	1.00[ASN][1000 genomes]
rs28409739	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813103	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56021640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132015	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273868	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56276467	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287413	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376224	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393994	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413126	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57188228	1.00[ASN][1000 genomes]
rs57665417	1.00[ASN][1000 genomes]
rs59142558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59344953	1.00[ASN][1000 genomes]
rs59371106	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59685141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820708	1.00[ASN][1000 genomes]
rs60411547	1.00[AMR][1000 genomes]
rs60954252	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61009175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61405107	1.00[ASN][1000 genomes]
rs6948113	1.00[ASN][1000 genomes]
rs73279689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73279692	1.00[ASN][1000 genomes]
rs73281517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281550	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281562	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281578	0.89[EUR][1000 genomes]
rs73281586	0.89[EUR][1000 genomes]
rs73281591	0.89[EUR][1000 genomes]
rs7793815	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793849	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794205	1.00[ASN][1000 genomes]
rs7798249	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803860	1.00[ASN][1000 genomes]
rs7807030	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26199400-26230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26200000-26227200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:26206600-26227600	Weak transcription	Esophagus	oesophagus
4	chr7:26206800-26226000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:26207000-26226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:26207000-26227400	Weak transcription	Gastric	stomach
7	chr7:26207000-26227600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:26207000-26228000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:26207200-26224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:26207200-26227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:26207200-26228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:26207400-26224800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:26207400-26227800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:26207600-26227000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:26207600-26227400	Weak transcription	Primary T cells from cord blood	blood
16	chr7:26208000-26226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:26208000-26227400	Weak transcription	Brain Substantia Nigra	brain
18	chr7:26208800-26227600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:26209200-26226000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:26210200-26227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:26210200-26227000	Weak transcription	Small Intestine	intestine
22	chr7:26210800-26223800	Weak transcription	GM12878-XiMat	blood
23	chr7:26210800-26224800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:26210800-26226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:26211000-26226000	Weak transcription	Thymus	Thymus
26	chr7:26211600-26224600	Weak transcription	Psoas Muscle	Psoas
27	chr7:26212200-26227400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:26213800-26223800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:26213800-26228400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:26214400-26228200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:26215600-26228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:26217200-26228000	Weak transcription	Fetal Brain Male	brain
33	chr7:26217400-26234800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:26218200-26236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:26218400-26224800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:26218400-26227000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:26218600-26224400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:26218600-26227000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:26218600-26228600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:26218800-26231800	Weak transcription	Fetal Intestine Small	intestine
41	chr7:26219000-26233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:26219600-26228200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:26219600-26228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:26219800-26224600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:26219800-26226200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:26219800-26227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:26220000-26224400	Weak transcription	Brain Anterior Caudate	brain
48	chr7:26220000-26224400	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:26220000-26224800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:26220000-26228000	Weak transcription	Fetal Kidney	kidney

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