Variant report

Variant	rs10487304
Chromosome Location	chr7:110778571-110778572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10257075	0.84[CEU][hapmap]
rs10261004	0.86[CEU][hapmap]
rs10261591	0.92[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10262354	0.85[CEU][hapmap];0.82[GIH][hapmap]
rs10270683	0.86[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs10273636	0.82[JPT][hapmap]
rs1034697	0.84[ASN][1000 genomes]
rs1034698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10487301	0.86[JPT][hapmap]
rs10953682	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10953683	0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11773752	0.86[JPT][hapmap]
rs11976211	0.85[CEU][hapmap];0.82[GIH][hapmap]
rs11981564	0.85[ASN][1000 genomes]
rs11981589	0.85[ASN][1000 genomes]
rs12669471	1.00[JPT][hapmap]
rs12671792	0.86[JPT][hapmap]
rs12674347	0.85[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs12674439	0.86[JPT][hapmap]
rs12705754	0.86[JPT][hapmap]
rs1476560	0.85[JPT][hapmap]
rs17158299	0.86[JPT][hapmap]
rs17158333	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2041659	0.86[JPT][hapmap]
rs2107145	0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.96[ASN][1000 genomes]
rs2107146	0.86[JPT][hapmap]
rs2107147	0.86[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.80[EUR][1000 genomes]
rs2110320	0.86[JPT][hapmap]
rs214852	0.82[JPT][hapmap]
rs214884	0.85[JPT][hapmap]
rs214885	0.85[JPT][hapmap]
rs214888	0.85[JPT][hapmap]
rs214890	1.00[JPT][hapmap]
rs214891	0.85[JPT][hapmap]
rs214892	1.00[JPT][hapmap]
rs214893	1.00[JPT][hapmap]
rs214896	0.86[JPT][hapmap]
rs214897	1.00[JPT][hapmap]
rs2189322	0.80[ASN][1000 genomes]
rs2189323	0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap]
rs2189324	0.85[JPT][hapmap]
rs2189325	0.85[JPT][hapmap]
rs2214447	0.86[JPT][hapmap]
rs3823926	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4727755	0.86[JPT][hapmap]
rs4730477	1.00[ASW][hapmap];0.92[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730478	0.92[CEU][hapmap];0.90[GIH][hapmap];0.80[LWK][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4730479	0.87[ASW][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4730481	0.88[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.85[ASN][1000 genomes]
rs4730482	1.00[JPT][hapmap];0.85[MEX][hapmap]
rs4730484	0.85[JPT][hapmap]
rs56178319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6466373	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6466375	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6979545	0.86[JPT][hapmap]
rs6979841	0.83[GIH][hapmap];0.86[JPT][hapmap]
rs757219	0.87[ASW][hapmap];0.85[CEU][hapmap];0.93[MEX][hapmap]
rs769129	0.87[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap]
rs769130	0.82[CHD][hapmap];0.85[MEX][hapmap]
rs7778044	1.00[JPT][hapmap]
rs7781676	0.86[JPT][hapmap]
rs7781715	0.86[JPT][hapmap]
rs7789480	0.86[JPT][hapmap]
rs7800862	0.85[CEU][hapmap];0.82[GIH][hapmap]
rs7811143	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs964501	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv608154	chr7:110688993-110945501	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv608155	chr7:110722482-111351512	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1035119	chr7:110745019-111258501	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1033647	chr7:110766750-110923436	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1016762	chr7:110769068-110883479	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1029168	chr7:110771561-110818458	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv888976	chr7:110773099-110959881	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv464674	chr7:110776037-110861883	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv608156	chr7:110776037-110861883	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110776600-110779800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:110776800-110780000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:110777200-110779000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:110777400-110779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:110777400-110780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:110777600-110778600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:110777600-110778600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:110777600-110778800	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:110777600-110779000	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:110777600-110779400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:110777600-110779400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:110777600-110779400	Enhancers	HUVEC	blood vessel
13	chr7:110777600-110779400	Enhancers	NHDF-Ad	bronchial
14	chr7:110777600-110780200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:110777600-110780600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:110777800-110778600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:110777800-110778600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:110777800-110778600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:110777800-110778600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:110777800-110778600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:110777800-110778600	Enhancers	NHEK	skin
22	chr7:110777800-110778800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:110777800-110779000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:110777800-110779000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:110777800-110779000	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:110777800-110779000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:110777800-110779000	Enhancers	Adipose Nuclei	Adipose
28	chr7:110777800-110779000	Enhancers	Fetal Thymus	thymus
29	chr7:110777800-110779200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr7:110777800-110779200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:110777800-110779200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr7:110777800-110779400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:110777800-110779400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr7:110777800-110779400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:110777800-110780400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:110777800-110780400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr7:110777800-110780400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:110778000-110778600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr7:110778000-110778600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:110778000-110778600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:110778000-110778600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr7:110778000-110778600	Enhancers	Brain Hippocampus Middle	brain
43	chr7:110778000-110778600	Enhancers	Gastric	stomach
44	chr7:110778000-110778600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:110778000-110778600	Enhancers	A549	lung
46	chr7:110778000-110778600	Enhancers	HSMM	muscle
47	chr7:110778000-110778800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:110778000-110778800	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr7:110778000-110778800	Enhancers	HMEC	breast
50	chr7:110778000-110778800	Enhancers	Monocytes-CD14+_RO01746	blood

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