Variant report

Variant	rs214853
Chromosome Location	chr7:110778279-110778280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1014269	1.00[CEU][hapmap];0.94[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1014270	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1014271	1.00[CEU][hapmap];0.94[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10237613	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10241771	1.00[CEU][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10257531	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10257931	0.88[YRI][hapmap]
rs10269177	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12705758	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13238719	0.91[EUR][1000 genomes]
rs214841	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214842	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs214844	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214845	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs214846	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214847	0.96[EUR][1000 genomes]
rs214848	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs214849	1.00[EUR][1000 genomes]
rs214850	1.00[EUR][1000 genomes]
rs214851	1.00[EUR][1000 genomes]
rs214854	1.00[EUR][1000 genomes]
rs214855	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214856	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214857	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214858	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214859	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214860	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214861	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214862	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214863	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214864	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214865	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214866	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214867	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214868	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs214869	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214870	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214871	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214872	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214873	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214874	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214877	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214878	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214879	1.00[EUR][1000 genomes]
rs214880	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214881	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214882	1.00[EUR][1000 genomes]
rs214886	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs214887	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214894	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2160024	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2396302	0.83[EUR][1000 genomes]
rs28590134	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs37745	1.00[CEU][hapmap]
rs4236594	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4730474	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57817514	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57971786	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58799975	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59891228	0.85[AFR][1000 genomes]
rs59902560	0.91[EUR][1000 genomes]
rs60866035	0.85[AFR][1000 genomes]
rs60913915	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6466372	0.83[EUR][1000 genomes]
rs6945175	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6964177	0.83[EUR][1000 genomes]
rs7783424	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7790427	1.00[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7801913	0.83[EUR][1000 genomes]
rs7801960	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs7802954	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7808895	0.91[EUR][1000 genomes]
rs996595	0.83[EUR][1000 genomes]
rs996597	1.00[CEU][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:76 , 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	chr7:110777000-110778400	Enhancers	Small Intestine	intestine
4	chr7:110777200-110779000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:110777400-110779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:110777400-110780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:110777600-110778600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:110777600-110778600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:110777600-110778800	Flanking Active TSS	GM12878-XiMat	blood
10	chr7:110777600-110779000	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:110777600-110779400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:110777600-110779400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:110777600-110779400	Enhancers	HUVEC	blood vessel
14	chr7:110777600-110779400	Enhancers	NHDF-Ad	bronchial
15	chr7:110777600-110780200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:110777600-110780600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:110777800-110778400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:110777800-110778400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:110777800-110778400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:110777800-110778400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:110777800-110778400	Flanking Active TSS	Hela-S3	cervix
22	chr7:110777800-110778600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:110777800-110778600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:110777800-110778600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:110777800-110778600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:110777800-110778600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:110777800-110778600	Enhancers	NHEK	skin
28	chr7:110777800-110778800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:110777800-110779000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:110777800-110779000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:110777800-110779000	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:110777800-110779000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr7:110777800-110779000	Enhancers	Adipose Nuclei	Adipose
34	chr7:110777800-110779000	Enhancers	Fetal Thymus	thymus
35	chr7:110777800-110779200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:110777800-110779200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:110777800-110779200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr7:110777800-110779400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:110777800-110779400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:110777800-110779400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:110777800-110780400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:110777800-110780400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr7:110777800-110780400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:110778000-110778400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:110778000-110778400	Enhancers	Brain Anterior Caudate	brain
46	chr7:110778000-110778400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr7:110778000-110778600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr7:110778000-110778600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:110778000-110778600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:110778000-110778600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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