Variant report

Variant	rs12616095
Chromosome Location	chr2:188446021-188446022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188445783..188446859-chr2:188707667..188708674,8	MCF-7	breast:
2	chr2:188445350..188448050-chr2:188450278..188452976,4	K562	blood:
3	chr2:188411707..188414780-chr2:188445119..188447288,3	K562	blood:
4	chr2:188362272..188363211-chr2:188445966..188446643,3	MCF-7	breast:
5	chr2:188363929..188365341-chr2:188444758..188446502,16	K562	blood:
6	chr2:188415101..188417280-chr2:188445536..188447377,2	K562	blood:
7	chr2:188440243..188443082-chr2:188444632..188448024,3	K562	blood:
8	chr2:188363950..188366399-chr2:188445083..188446553,13	MCF-7	breast:
9	chr2:188363922..188366266-chr2:188444694..188447033,35	MCF-7	breast:
10	chr2:188360925..188366256-chr2:188443265..188447959,7	K562	blood:
11	chr2:188443788..188447797-chr2:188450278..188454059,4	K562	blood:
12	chr1:146713788..146714307-chr2:188445941..188446637,2	MCF-7	breast:
13	chr2:188365429..188366272-chr2:188444751..188446554,9	K562	blood:
14	chr2:188445739..188446515-chr2:188708197..188708735,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000003436	Chromatin interaction
ENSG00000131778	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10201169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12612748	0.81[ASN][1000 genomes]
rs12618708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12622831	0.81[ASN][1000 genomes]
rs13427934	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13432763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1861309	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs55818121	1.00[AFR][1000 genomes]
rs55822404	1.00[AFR][1000 genomes]
rs55881028	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933355	1.00[AFR][1000 genomes]
rs55993774	1.00[AFR][1000 genomes]
rs56127332	1.00[AFR][1000 genomes]
rs56401763	1.00[AFR][1000 genomes]
rs6737903	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs72904378	1.00[AFR][1000 genomes]
rs7565807	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8176418	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8176420	1.00[JPT][hapmap]
rs8176444	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8176482	0.81[ASN][1000 genomes]
rs8176490	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8176594	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8176603	0.81[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking 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
15	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers 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
16	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv875584	chr2:188414161-188500930	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875585	chr2:188424525-188626214	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv584039	chr2:188435643-188482933	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188442400-188450800	Weak transcription	Hela-S3	cervix
2	chr2:188444400-188446200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:188445200-188446200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:188445200-188446600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:188445200-188446600	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:188445200-188446600	Active TSS	Right Atrium	heart
7	chr2:188445200-188446600	Enhancers	NHLF	lung
8	chr2:188445400-188446200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:188445400-188446600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:188445400-188446600	Enhancers	Dnd41	blood
11	chr2:188445600-188446200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:188445600-188446200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:188445600-188446200	Active TSS	Brain Hippocampus Middle	brain
14	chr2:188445600-188446200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:188445600-188446200	Active TSS	Fetal Kidney	kidney
16	chr2:188445600-188446200	Enhancers	HSMM	muscle
17	chr2:188445600-188446200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:188445600-188446400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:188445600-188446400	Active TSS	Fetal Intestine Large	intestine
20	chr2:188445600-188446400	Active TSS	Fetal Lung	lung
21	chr2:188445600-188446600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:188445600-188446600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:188445600-188446600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:188445600-188446600	Enhancers	Primary T cells from cord blood	blood
25	chr2:188445600-188446600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:188445600-188446600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:188445600-188446600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:188445600-188446600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr2:188445600-188446600	Active TSS	Aorta	Aorta
30	chr2:188445600-188446600	Active TSS	Brain Substantia Nigra	brain
31	chr2:188445600-188446600	Active TSS	Psoas Muscle	Psoas
32	chr2:188445600-188446600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr2:188445600-188446600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr2:188445600-188446600	Active TSS	Stomach Smooth Muscle	stomach
35	chr2:188445600-188446600	Active TSS	NHDF-Ad	bronchial
36	chr2:188445600-188446600	Enhancers	NHEK	skin
37	chr2:188445600-188446600	Flanking Active TSS	Osteobl	bone
38	chr2:188445600-188446800	Active TSS	HepG2	liver
39	chr2:188445800-188446200	Active TSS	Primary hematopoietic stem cells	blood
40	chr2:188445800-188446200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:188445800-188446200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:188445800-188446200	Enhancers	HUVEC	blood vessel
43	chr2:188445800-188446400	Active TSS	A549	lung
44	chr2:188445800-188446600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:188445800-188446600	Active TSS	Fetal Intestine Small	intestine
46	chr2:188445800-188446600	Active TSS	K562	blood
47	chr2:188445800-188446600	Enhancers	NH-A	brain
48	chr2:188446000-188446200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr2:188446000-188446200	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:188446000-188446400	Flanking Active TSS	Liver	Liver

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