Variant report

Variant	rs214891
Chromosome Location	chr7:110734416-110734417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110726126..110728780-chr7:110733291..110735049,2	K562	blood:
2	chr7:110729447..110732257-chr7:110732574..110735339,2	K562	blood:

Variant related genes	Relation type
ENSG00000173114	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10261591	0.85[JPT][hapmap]
rs10273636	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1034698	0.85[JPT][hapmap]
rs10487304	0.85[JPT][hapmap]
rs10953682	0.85[JPT][hapmap]
rs10953683	0.85[JPT][hapmap]
rs12669471	0.82[JPT][hapmap]
rs12671792	0.81[EUR][1000 genomes]
rs13238762	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1476560	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17158299	0.81[EUR][1000 genomes]
rs17158333	0.85[JPT][hapmap]
rs2107145	0.85[JPT][hapmap]
rs214852	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs214876	0.92[EUR][1000 genomes]
rs214884	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs214885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs214888	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214890	0.85[JPT][hapmap]
rs214892	0.85[JPT][hapmap]
rs214893	0.82[EUR][1000 genomes]
rs214897	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs214898	0.81[EUR][1000 genomes]
rs2189323	0.85[JPT][hapmap]
rs2189324	1.00[JPT][hapmap]
rs2189325	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4730477	0.85[JPT][hapmap]
rs4730479	0.85[JPT][hapmap]
rs4730481	0.85[JPT][hapmap]
rs4730482	0.85[JPT][hapmap]
rs4730484	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs57719624	0.86[ASN][1000 genomes]
rs6466375	0.85[JPT][hapmap]
rs7778044	0.85[JPT][hapmap]
rs7789480	0.88[CEU][hapmap]
rs7792161	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs7801700	0.97[ASN][1000 genomes]
rs964501	1.00[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:55 , 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	chr7:110730600-110735200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr7:110730800-110734800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:110730800-110735000	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr7:110730800-110735000	Active TSS	Brain Angular Gyrus	brain
6	chr7:110730800-110735000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:110730800-110735000	Active TSS	Brain Substantia Nigra	brain
8	chr7:110730800-110735200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr7:110730800-110735200	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr7:110730800-110735200	Active TSS	Brain Anterior Caudate	brain
11	chr7:110730800-110735200	Active TSS	Brain Cingulate Gyrus	brain
12	chr7:110731000-110735000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:110731000-110736000	Active TSS	Brain Germinal Matrix	brain
14	chr7:110731200-110734600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:110731200-110734800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:110731200-110734800	Active TSS	Primary T cells fromperipheralblood	blood
17	chr7:110731800-110734600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:110732000-110735200	Active TSS	Fetal Thymus	thymus
19	chr7:110732200-110736200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:110732200-110736800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:110732400-110736000	Active TSS	Fetal Brain Female	brain
22	chr7:110732400-110738600	Weak transcription	Psoas Muscle	Psoas
23	chr7:110732600-110734600	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr7:110732600-110738600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:110732800-110735200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:110732800-110738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:110732800-110738600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:110733000-110734600	Enhancers	GM12878-XiMat	blood
29	chr7:110733000-110734800	Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:110733200-110735800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:110733400-110734600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:110733600-110734800	Enhancers	Left Ventricle	heart
33	chr7:110733600-110735000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr7:110733800-110734800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:110733800-110734800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr7:110733800-110735600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:110733800-110736600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:110733800-110747200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:110734000-110734600	Active TSS	Fetal Stomach	stomach
40	chr7:110734000-110735000	Enhancers	Adipose Nuclei	Adipose
41	chr7:110734000-110735000	Enhancers	Fetal Lung	lung
42	chr7:110734000-110735200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:110734000-110737000	Weak transcription	A549	lung
44	chr7:110734200-110734800	Enhancers	Fetal Heart	heart
45	chr7:110734200-110735600	Active TSS	Fetal Brain Male	brain
46	chr7:110734200-110735800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:110734200-110736000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:110734200-110736200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:110734200-110737400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:110734200-110738000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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