Variant report

Variant	rs12105671
Chromosome Location	chr2:189193142-189193143
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	chr2:189192790..189195620-chr2:189206349..189207946,2	MCF-7	breast:
2	chr2:189155671..189159103-chr2:189189018..189193192,5	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10460383	1.00[JPT][hapmap]
rs10931347	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10931350	1.00[ASN][1000 genomes]
rs11688935	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12619948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12693496	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34711211	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35409022	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4233800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4353610	0.91[ASN][1000 genomes]
rs4353611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4446047	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4505490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs56110119	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6434274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6434275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6434276	1.00[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6434279	1.00[JPT][hapmap]
rs67050668	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6723034	1.00[JPT][hapmap]
rs6727073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs72905541	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72905544	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72905553	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72905582	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905599	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72907662	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419883	0.82[CHB][hapmap];0.91[ASN][1000 genomes]
rs7424417	1.00[JPT][hapmap]
rs7557622	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7559636	0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7575702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7577484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7585851	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 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	chr2:189183000-189196000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:189183400-189197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:189183400-189198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:189183600-189205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:189183600-189205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:189183800-189198600	Weak transcription	Ovary	ovary
7	chr2:189187800-189204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:189188800-189210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:189189200-189198400	Weak transcription	HUVEC	blood vessel
10	chr2:189189600-189196000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189190400-189193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:189190400-189194200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:189191200-189193200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189191400-189194800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:189191600-189197200	Weak transcription	Left Ventricle	heart
16	chr2:189191800-189195400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:189191800-189197200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:189191800-189197200	Weak transcription	Psoas Muscle	Psoas
19	chr2:189191800-189197200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:189192000-189193600	Enhancers	K562	blood
21	chr2:189192000-189194400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:189192000-189195400	Weak transcription	Fetal Brain Female	brain
23	chr2:189192000-189205000	Weak transcription	Fetal Stomach	stomach
24	chr2:189192200-189197200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:189192200-189197200	Weak transcription	Aorta	Aorta
26	chr2:189192200-189197800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:189192200-189198400	Weak transcription	NHLF	lung
28	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
29	chr2:189192400-189193600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:189192400-189197000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:189192400-189197800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:189192600-189195200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:189192600-189197200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:189192600-189197800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:189192800-189193200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:189192800-189194000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:189192800-189194200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:189192800-189198400	Weak transcription	Fetal Lung	lung
39	chr2:189192800-189198600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:189193000-189193400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:189193000-189195000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:189193000-189197400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:189193000-189198400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:189193000-189198400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:189193000-189198400	Weak transcription	NHDF-Ad	bronchial
46	chr2:189193000-189198600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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