Variant report

Variant	rs3113002
Chromosome Location	chr2:95700730-95700731
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	chr2:95694636..95698537-chr2:95698705..95703366,6	MCF-7	breast:
2	chr2:95698656..95702870-chr2:95706305..95711036,7	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17119148	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs1875402	1.00[ASW][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs2291991	0.91[ASN][1000 genomes]
rs2320620	0.89[CHB][hapmap];0.86[YRI][hapmap]
rs3105098	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3105099	0.89[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105101	0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs3105104	1.00[ASW][hapmap];0.85[CHB][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs3105105	1.00[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap]
rs3112225	0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs3112228	1.00[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs3112230	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap]
rs3112982	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3112983	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3112984	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs3112985	0.90[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3112986	0.85[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs3112995	0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs3112996	1.00[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs3112997	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap]
rs4241315	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[ASN][1000 genomes]
rs4854241	0.81[CHB][hapmap];0.85[GIH][hapmap]
rs62637956	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6725821	0.80[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap]
rs7560571	0.91[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.81[EUR][1000 genomes]
rs7565772	1.00[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs7582368	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap]
rs872580	1.00[ASW][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	esv3326687	chr2:95700225-95708023	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95692600-95702200	Weak transcription	Pancreas	Pancrea
2	chr2:95693400-95706400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:95693600-95702400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:95694000-95701400	Genic enhancers	Fetal Thymus	thymus
5	chr2:95694000-95703000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:95695200-95703800	Enhancers	Brain Angular Gyrus	brain
7	chr2:95696000-95706800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:95696200-95700800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:95696400-95701400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:95696400-95702200	Weak transcription	Gastric	stomach
11	chr2:95696800-95702000	Weak transcription	Fetal Kidney	kidney
12	chr2:95698400-95710400	Enhancers	Brain Substantia Nigra	brain
13	chr2:95698800-95702600	Genic enhancers	Thymus	Thymus
14	chr2:95699000-95702400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:95699000-95704200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:95699000-95708200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:95699200-95710000	Enhancers	Brain Anterior Caudate	brain
18	chr2:95699400-95704600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:95699600-95700800	Enhancers	HSMMtube	muscle
20	chr2:95699600-95701200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:95699600-95702800	Enhancers	Esophagus	oesophagus
22	chr2:95699600-95704000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:95699800-95702200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:95699800-95702600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:95700000-95702600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:95700000-95710200	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:95700200-95701200	Enhancers	GM12878-XiMat	blood
28	chr2:95700200-95702200	Weak transcription	Lung	lung
29	chr2:95700200-95703000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:95700200-95703000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:95700200-95708000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:95700200-95709000	Enhancers	Brain Hippocampus Middle	brain
33	chr2:95700400-95701200	Enhancers	Primary T cells from cord blood	blood
34	chr2:95700400-95709000	Weak transcription	Dnd41	blood
35	chr2:95700600-95701200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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