Variant report

Variant	rs73281521
Chromosome Location	chr7:26222272-26222273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:26221981-26222980	MCF-7	breast:	n/a	n/a
2	POLR2A	chr7:26221862-26222320	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	POLR2A	chr7:26221696-26237480	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:26221696-26225862	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:26217795-26225797	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr7:26220749-26225822	U87	brain:	n/a	n/a
9	BCL3	chr7:26217644-26229718	A549	lung:	n/a	chr7:26226946-26226953 chr7:26220505-26220512 chr7:26220601-26220614
10	MTA3	chr7:26221753-26222802	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:26221827-26222333	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr7:26221642-26225481	HUVEC	blood vessel:	n/a	n/a
13	JUND	chr7:26221736-26224256	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:26219131-26225818	SK-N-SH	brain:	n/a	n/a
15	ZBTB33	chr7:26221715-26223072	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:26221828-26225720	HCT-116	colon:	n/a	n/a
17	MBD4	chr7:26221824-26222887	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:26221884-26230903	GM12892	blood:	n/a	n/a
19	POLR2A	chr7:26221907-26222283	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:26217201-26229557	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:26221853-26225855	GM12892	blood:	n/a	n/a
22	JUND	chr7:26221856-26223366	A549	lung:	n/a	n/a
23	BCL3	chr7:26221914-26222329	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:26221647-26225827	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
26	PBX3	chr7:26221872-26222986	SK-N-SH	brain:	n/a	n/a
27	TCF12	chr7:26221957-26224442	A549	lung:	n/a	n/a
28	POLR2A	chr7:26221916-26222329	K562	blood:	n/a	n/a
29	POLR2A	chr7:26220388-26231360	U87	brain:	n/a	n/a
30	POLR2A	chr7:26221839-26225801	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr7:26222050-26223254	GM12892	blood:	n/a	n/a
32	JUND	chr7:26222254-26222743	MCF-7	breast:	n/a	n/a
33	POLR2A	chr7:26221869-26230850	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:26221741-26231449	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:26221775-26225722	GM19099	blood:	n/a	n/a
36	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
37	POLR2A	chr7:26221748-26225717	PBDE	blood:	n/a	n/a
38	POLR2A	chr7:26220997-26230627	IMR90	lung:	n/a	n/a
39	POLR2A	chr7:26220755-26231434	U87	brain:	n/a	n/a
40	POLR2A	chr7:26221822-26225754	GM12891	blood:	n/a	n/a
41	POLR2A	chr7:26221780-26231398	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:26221760-26237544	A549	lung:	n/a	n/a
43	NFIC	chr7:26221795-26222346	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr7:26221526-26225790	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr7:26221679-26225820	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr7:26220883-26225807	U87	brain:	n/a	n/a
48	POLR2A	chr7:26221822-26225732	GM12891	blood:	n/a	n/a
49	POLR2A	chr7:26221714-26237502	GM18505	blood:	n/a	n/a
50	POLR2A	chr7:26221686-26229023	HUVEC	blood vessel:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26220379..26222750-chr7:26324403..26326556,2	MCF-7	breast:
2	chr7:26121331..26123679-chr7:26220972..26223224,2	MCF-7	breast:
3	chr7:26221250..26223290-chr7:26281932..26283761,3	MCF-7	breast:
4	chr7:26209588..26214635-chr7:26216506..26225474,18	K562	blood:
5	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
6	chr7:26209015..26211740-chr7:26220518..26222809,3	MCF-7	breast:
7	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
8	chr7:26191421..26193047-chr7:26221749..26224345,2	MCF-7	breast:
9	chr7:26129567..26132077-chr7:26220760..26223665,4	MCF-7	breast:

No data

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

Extended variants
information (count: 66 )
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]
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]
rs73281529	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:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv15311	chr7:26219370-26222359	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

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	chr7:26207800-26223200	Weak transcription	Fetal Thymus	thymus
17	chr7:26208000-26226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:26208000-26227400	Weak transcription	Brain Substantia Nigra	brain
19	chr7:26208600-26222400	Weak transcription	Lung	lung
20	chr7:26208800-26227600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:26209200-26226000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:26210200-26227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:26210200-26227000	Weak transcription	Small Intestine	intestine
24	chr7:26210800-26223800	Weak transcription	GM12878-XiMat	blood
25	chr7:26210800-26224800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:26210800-26226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:26211000-26226000	Weak transcription	Thymus	Thymus
28	chr7:26211600-26224600	Weak transcription	Psoas Muscle	Psoas
29	chr7:26212200-26227400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:26213800-26223800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:26213800-26228400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:26214400-26228200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:26215600-26228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:26217200-26228000	Weak transcription	Fetal Brain Male	brain
35	chr7:26217400-26234800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:26218000-26223600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:26218200-26236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:26218400-26224800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:26218400-26227000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:26218600-26224400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:26218600-26227000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:26218600-26228600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:26218800-26231800	Weak transcription	Fetal Intestine Small	intestine
44	chr7:26219000-26233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:26219600-26228200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:26219600-26228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:26219800-26224600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:26219800-26226200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:26219800-26227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:26220000-26224400	Weak transcription	Brain Anterior Caudate	brain

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