Variant report

Variant	rs214892
Chromosome Location	chr7:110732562-110732563
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110731481..110733049-chr7:110763510..110765094,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10226045	0.82[ASN][1000 genomes]
rs10261591	1.00[JPT][hapmap]
rs10270683	0.86[JPT][hapmap]
rs10273636	0.82[JPT][hapmap]
rs1034698	1.00[JPT][hapmap]
rs10487301	0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10487304	1.00[JPT][hapmap]
rs10953676	0.82[CHB][hapmap]
rs10953682	1.00[JPT][hapmap]
rs10953683	1.00[JPT][hapmap]
rs11773752	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs119062	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12668074	0.85[ASN][1000 genomes]
rs12669471	1.00[JPT][hapmap];0.91[YRI][hapmap]
rs12671792	0.90[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12674347	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12674439	0.86[JPT][hapmap]
rs12705753	0.81[ASN][1000 genomes]
rs12705754	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs1476560	0.85[JPT][hapmap]
rs17158299	0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs17158333	1.00[JPT][hapmap]
rs2041659	0.86[JPT][hapmap]
rs2107145	1.00[JPT][hapmap]
rs2107146	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2107147	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2110320	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
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];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs214891	0.85[JPT][hapmap]
rs214893	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs214896	0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs214897	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs214898	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2189322	1.00[CEU][hapmap]
rs2189323	1.00[JPT][hapmap]
rs2189324	0.85[JPT][hapmap]
rs2189325	0.85[JPT][hapmap]
rs2214447	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs4727755	0.86[JPT][hapmap]
rs4730477	1.00[JPT][hapmap]
rs4730479	1.00[JPT][hapmap]
rs4730481	1.00[JPT][hapmap]
rs4730482	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs4730484	0.85[JPT][hapmap]
rs57310121	0.84[ASN][1000 genomes]
rs60682653	0.94[ASN][1000 genomes]
rs6466375	1.00[JPT][hapmap]
rs6979545	0.86[JPT][hapmap]
rs6979841	0.86[JPT][hapmap]
rs73418019	0.86[ASN][1000 genomes]
rs73418031	0.89[ASN][1000 genomes]
rs7455821	0.85[ASN][1000 genomes]
rs769129	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs769130	1.00[CEU][hapmap]
rs7778044	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes]
rs7781676	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs7781715	0.86[JPT][hapmap];0.83[YRI][hapmap]
rs964501	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv515693	chr7:110728181-110743602	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110730200-110736800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:110730600-110734400	Active TSS	Right Atrium	heart
3	chr7:110730600-110735200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:110730800-110732600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr7:110730800-110733800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:110730800-110734000	Active TSS	Fetal Muscle Leg	muscle
7	chr7:110730800-110734800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:110730800-110735000	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr7:110730800-110735000	Active TSS	Brain Angular Gyrus	brain
10	chr7:110730800-110735000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:110730800-110735000	Active TSS	Brain Substantia Nigra	brain
12	chr7:110730800-110735200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr7:110730800-110735200	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr7:110730800-110735200	Active TSS	Brain Anterior Caudate	brain
15	chr7:110730800-110735200	Active TSS	Brain Cingulate Gyrus	brain
16	chr7:110731000-110732600	Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr7:110731000-110732600	Active TSS	Fetal Muscle Trunk	muscle
18	chr7:110731000-110732800	Active TSS	Fetal Lung	lung
19	chr7:110731000-110732800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:110731000-110733200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:110731000-110733200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:110731000-110733200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:110731000-110733600	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr7:110731000-110733800	Active TSS	Primary T cells from cord blood	blood
25	chr7:110731000-110734000	Active TSS	Primary B cells from cord blood	blood
26	chr7:110731000-110734000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr7:110731000-110734000	Active TSS	Thymus	Thymus
28	chr7:110731000-110735000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:110731000-110736000	Active TSS	Brain Germinal Matrix	brain
30	chr7:110731200-110732600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:110731200-110732600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:110731200-110733000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:110731200-110733800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr7:110731200-110734600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:110731200-110734800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:110731200-110734800	Active TSS	Primary T cells fromperipheralblood	blood
37	chr7:110731400-110733800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:110731600-110732800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:110731600-110733200	Enhancers	Dnd41	blood
40	chr7:110731600-110733400	Enhancers	Small Intestine	intestine
41	chr7:110731600-110733600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:110731800-110732600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:110731800-110732600	Flanking Active TSS	Fetal Brain Male	brain
44	chr7:110731800-110732600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr7:110731800-110732800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:110731800-110733800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr7:110731800-110734600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:110732000-110732800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:110732000-110732800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:110732000-110732800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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