Variant report

Variant	rs1513881
Chromosome Location	chr2:177679372-177679373
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	SIN3AK20	chr2:177678831-177679678	MCF-7	breast:	n/a	n/a
2	GATA3	chr2:177679308-177679841	SK-N-SH	brain:	n/a	n/a
3	JUND	chr2:177678898-177679486	MCF-7	breast:	n/a	n/a
4	ESR1	chr2:177679020-177679430	T-47D	breast:	n/a	n/a
5	HDAC2	chr2:177678911-177679419	MCF-7	breast:	n/a	chr2:177679140-177679149
6	TCF12	chr2:177679022-177679444	MCF-7	breast:	n/a	n/a
7	GATA3	chr2:177679051-177679417	T-47D	breast:	n/a	n/a
8	ESR1	chr2:177678983-177679399	T-47D	breast:	n/a	n/a
9	JUND	chr2:177678990-177679483	T-47D	breast:	n/a	n/a
10	CTCF	chr2:177679162-177680329	A549	lung:	n/a	chr2:177679676-177679697 chr2:177679681-177679699
11	TEAD4	chr2:177678921-177679446	MCF-7	breast:	n/a	n/a
12	FOXM1	chr2:177678797-177679678	MCF-7	breast:	n/a	n/a
13	GATA3	chr2:177678685-177680112	MCF-7	breast:	n/a	n/a
14	EP300	chr2:177678882-177679720	MCF-7	breast:	n/a	chr2:177679140-177679150 chr2:177679630-177679644
15	FOSL2	chr2:177678891-177679569	MCF-7	breast:	n/a	n/a
16	ZNF217	chr2:177679004-177679694	MCF-7	breast:	n/a	n/a
17	GATA3	chr2:177678830-177679904	MCF-7	breast:	n/a	n/a
18	RAD21	chr2:177678933-177679909	MCF-7	breast:	n/a	chr2:177679679-177679698
19	NR2F2	chr2:177678890-177679454	MCF-7	breast:	n/a	n/a
20	EP300	chr2:177678911-177679514	MCF-7	breast:	n/a	chr2:177679140-177679150
21	GATA3	chr2:177679052-177679765	MCF-7	breast:	n/a	n/a
22	GATA3	chr2:177679004-177679715	MCF-7	breast:	n/a	n/a
23	GATA3	chr2:177679357-177679924	A549	lung:	n/a	n/a
24	TEAD4	chr2:177679063-177679382	MCF-7	breast:	n/a	n/a
25	GATA3	chr2:177679335-177679913	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr2:177678869-177679996	MCF-7	breast:	n/a	chr2:177679679-177679698
27	HDAC2	chr2:177678918-177679782	MCF-7	breast:	n/a	chr2:177679140-177679149
28	RAD21	chr2:177679046-177680270	SK-N-SH	brain:	n/a	chr2:177679679-177679698
29	NR2F2	chr2:177678936-177679790	MCF-7	breast:	n/a	n/a
30	RAD21	chr2:177679334-177679960	HCT-116	colon:	n/a	chr2:177679679-177679698
31	SMC3	chr2:177679246-177680076	SK-N-SH	brain:	n/a	n/a
32	GATA1	chr2:177679307-177680032	PBDE	blood:	n/a	n/a
33	SIN3AK20	chr2:177678839-177679648	MCF-7	breast:	n/a	n/a
34	GATA3	chr2:177679323-177679806	SH-SY5Y	brain:	n/a	n/a
35	CEBPB	chr2:177678946-177679400	MCF-7	breast:	n/a	chr2:177679097-177679108
36	FOSL2	chr2:177678924-177679473	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:177679308-177680353	SK-N-SH	brain:	n/a	chr2:177679676-177679697 chr2:177679681-177679699
38	CTCF	chr2:177679306-177680011	HCT-116	colon:	n/a	chr2:177679676-177679697 chr2:177679681-177679699
39	ESR1	chr2:177678979-177679401	T-47D	breast:	n/a	n/a
40	GATA3	chr2:177679026-177679821	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:177004878..177006132-chr2:177679220..177679989,4	MCF-7	breast:
2	chr2:177516751..177517622-chr2:177679221..177680084,2	MCF-7	breast:
3	chr2:177518427..177519228-chr2:177679235..177679802,3	MCF-7	breast:
4	chr2:177678711..177679684-chr2:177710502..177711032,2	MCF-7	breast:
5	chr2:177543870..177544476-chr2:177679175..177679998,2	MCF-7	breast:
6	chr2:177516771..177517762-chr2:177679104..177680158,5	MCF-7	breast:
7	chr2:177672353..177675128-chr2:177678147..177680944,2	K562	blood:
8	chr2:177610086..177610770-chr2:177679196..177679715,2	MCF-7	breast:
9	chr2:177518336..177518879-chr2:177679032..177679756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223777	TF binding region
ENSG00000223777	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11695875	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11696057	0.82[ASN][1000 genomes]
rs12470292	1.00[JPT][hapmap]
rs12693106	1.00[CHB][hapmap]
rs1437724	0.84[CEU][hapmap]
rs17670224	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6750532	1.00[CHB][hapmap]
rs7569150	0.84[CEU][hapmap]

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	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177676800-177679600	Enhancers	Fetal Lung	lung
2	chr2:177677200-177679600	Enhancers	Ovary	ovary
3	chr2:177677400-177681600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:177678000-177679400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:177678000-177680200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:177678200-177679600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:177678200-177679600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:177678200-177679600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:177678200-177679600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:177678200-177679600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:177678200-177683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:177678400-177679600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:177678600-177679400	Enhancers	Stomach Mucosa	stomach
14	chr2:177678600-177681600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:177678600-177683200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:177678800-177679400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:177678800-177679400	Weak transcription	Brain Substantia Nigra	brain
18	chr2:177678800-177679600	Enhancers	Liver	Liver
19	chr2:177678800-177679600	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:177679000-177679400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:177679000-177683400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:177679200-177679400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:177679200-177679400	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:177679200-177679600	Enhancers	HepG2	liver
25	chr2:177679200-177680000	Enhancers	Primary T helper cells PMA-I stimulated	--

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