Variant report

Variant	rs8176594
Chromosome Location	chr2:188369476-188369477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188367651..188372772-chr2:188414874..188419301,6	K562	blood:
2	chr2:188368955..188371760-chr2:188416561..188418698,2	K562	blood:
3	chr2:188367231..188371096-chr2:188401019..188405423,6	K562	blood:

Variant related genes	Relation type
ENSG00000224063	Chromatin interaction
ENSG00000003436	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10201169	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12612748	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616095	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12618708	0.89[ASN][1000 genomes]
rs12622831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427934	0.83[ASN][1000 genomes]
rs13432763	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1861309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771070	0.82[EUR][1000 genomes]
rs3771071	0.82[EUR][1000 genomes]
rs55881028	0.81[ASN][1000 genomes]
rs6731106	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6737903	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760862	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73981578	0.82[EUR][1000 genomes]
rs7565807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595810	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8176444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176482	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176497	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176565	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176603	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176606	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176608	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176611	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176616	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176622	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176625	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:188350600-188370000	Weak transcription	Small Intestine	intestine
3	chr2:188356400-188374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:188358200-188370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:188358400-188374600	Weak transcription	Fetal Thymus	thymus
6	chr2:188359200-188375600	Weak transcription	Lung	lung
7	chr2:188360600-188375600	Weak transcription	HSMMtube	muscle
8	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
9	chr2:188365400-188370400	Enhancers	Hela-S3	cervix
10	chr2:188365400-188370600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:188365600-188376400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:188365800-188370200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:188366200-188369800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:188366200-188375400	Weak transcription	Placenta	Placenta
15	chr2:188366600-188369800	Weak transcription	NHDF-Ad	bronchial
16	chr2:188367200-188374600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:188367200-188383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:188367600-188381600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:188368000-188369600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:188368200-188370600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:188368200-188374400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:188368400-188370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:188368400-188383800	Weak transcription	Osteobl	bone
24	chr2:188368600-188369800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:188368600-188370200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:188368600-188370400	Enhancers	Primary T cells from cord blood	blood
27	chr2:188368600-188370600	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:188368800-188370200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:188368800-188374600	Weak transcription	HSMM	muscle
30	chr2:188369000-188369600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:188369000-188369600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:188369000-188369600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:188369000-188369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:188369000-188369600	Enhancers	Fetal Lung	lung
35	chr2:188369000-188369600	Flanking Active TSS	HUVEC	blood vessel
36	chr2:188369000-188370400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:188369000-188370600	Enhancers	Dnd41	blood
38	chr2:188369200-188370000	Weak transcription	A549	lung
39	chr2:188369200-188374800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:188369400-188369600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:188369400-188369600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:188369400-188369600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:188369400-188370000	Enhancers	Right Atrium	heart
44	chr2:188369400-188370200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:188369400-188370200	Enhancers	HepG2	liver
46	chr2:188369400-188370400	Enhancers	K562	blood

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