Variant report

Variant	rs10497094
Chromosome Location	chr2:152976002-152976003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152957588..152960335-chr2:152975953..152978509,2	K562	blood:
2	chr2:152972562..152974941-chr2:152975628..152977362,2	MCF-7	breast:
3	chr2:152975782..152978674-chr2:152980584..152983578,3	K562	blood:
4	chr2:152975782..152978627-chr2:152980580..152983578,3	K562	blood:
5	chr2:152968155..152969662-chr2:152974351..152976123,2	K562	blood:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10182220	0.90[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs10497096	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11883513	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11883564	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11883823	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11895924	0.81[CHD][hapmap]
rs11901219	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12614451	0.92[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12615121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995179	0.87[AMR][1000 genomes]
rs13003831	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13008702	1.00[CEU][hapmap]
rs13015485	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13017394	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16830726	0.95[CHB][hapmap];1.00[CHD][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs16830728	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830744	0.92[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16830853	1.00[CEU][hapmap]
rs34462050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820706	0.89[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
rs4664083	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59342964	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67622277	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72621654	0.82[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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152956200-152978600	Weak transcription	Aorta	Aorta
2	chr2:152957200-152979400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:152964400-152977000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:152968000-152995800	Weak transcription	HSMMtube	muscle
5	chr2:152969200-152978600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:152969400-152989000	Weak transcription	HepG2	liver
7	chr2:152970000-152977000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:152970000-152977000	Weak transcription	Fetal Stomach	stomach
9	chr2:152970000-152977200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:152970000-152990800	Weak transcription	Stomach Mucosa	stomach
11	chr2:152970200-152977000	Weak transcription	Ovary	ovary
12	chr2:152970200-153003000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:152970600-152977000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:152970600-152977800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:152970800-152976200	Weak transcription	NH-A	brain
16	chr2:152970800-152981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:152971000-152976600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:152971000-152977000	Weak transcription	Thymus	Thymus
19	chr2:152971000-152978400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:152971200-152976600	Weak transcription	Dnd41	blood
21	chr2:152971200-152977000	Weak transcription	Lung	lung
22	chr2:152971200-153008400	Weak transcription	Esophagus	oesophagus
23	chr2:152971400-153002200	Weak transcription	Brain Anterior Caudate	brain
24	chr2:152971800-152977600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:152971800-152980000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:152972000-152978600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:152972800-152991000	Weak transcription	Gastric	stomach
28	chr2:152973000-152976600	Weak transcription	Left Ventricle	heart
29	chr2:152973800-152976400	Weak transcription	Osteobl	bone
30	chr2:152974000-152977000	Weak transcription	Fetal Intestine Large	intestine
31	chr2:152974000-152980000	Weak transcription	HSMM	muscle
32	chr2:152974200-152980000	Weak transcription	Fetal Kidney	kidney
33	chr2:152974200-153001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:152974200-153017000	Weak transcription	Colonic Mucosa	Colon
35	chr2:152974400-152976200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:152974400-152977000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:152974400-152977000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:152974600-152976200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:152974600-152976200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:152974600-152976400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:152974600-152976800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:152974800-152976400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:152974800-152977800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:152974800-153002000	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:152974800-153003800	Weak transcription	NHEK	skin
46	chr2:152974800-153008200	Weak transcription	Fetal Brain Female	brain
47	chr2:152975000-152976600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:152975000-152976600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:152975000-152977200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:152975000-152987800	Weak transcription	Right Ventricle	heart

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