Variant report

Variant	rs3111395
Chromosome Location	chr2:161027194-161027195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:161000991..161002542-chr2:161026874..161029211,2	MCF-7	breast:
2	chr2:161022710..161025666-chr2:161026068..161028687,2	MCF-7	breast:
3	chr2:161025898..161028586-chr2:161060919..161062605,2	MCF-7	breast:
4	chr2:161000112..161002842-chr2:161027169..161029887,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1037694	0.87[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10497212	0.87[CHB][hapmap]
rs1563573	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16844790	0.87[CHB][hapmap]
rs16844802	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs17284082	0.88[CHB][hapmap]
rs2357770	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357771	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357864	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2925752	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2925754	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2966385	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3101040	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3111397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4665156	0.86[CHB][hapmap]
rs62175380	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62175383	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62175385	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62175389	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62175390	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62175433	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6432608	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7581712	0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7603686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
2	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
3	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:161002600-161028400	Weak transcription	Lung	lung
5	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
6	chr2:161014800-161028200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:161015000-161037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:161016000-161027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:161016000-161030800	Strong transcription	HMEC	breast
10	chr2:161016200-161029800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:161016200-161030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:161016400-161030200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:161020800-161028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:161021400-161029400	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr2:161022200-161030800	Strong transcription	NHEK	skin
16	chr2:161022400-161028800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:161023000-161037000	Weak transcription	Stomach Mucosa	stomach
18	chr2:161024000-161051000	Weak transcription	HSMMtube	muscle
19	chr2:161024600-161029200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:161025400-161029800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:161025600-161051000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:161026200-161028800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:161026400-161030400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:161026400-161030800	Weak transcription	A549	lung
25	chr2:161026400-161037800	Weak transcription	Fetal Intestine Small	intestine
26	chr2:161026800-161029200	Strong transcription	HSMM	muscle
27	chr2:161026800-161037400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:161027000-161027200	Enhancers	Fetal Intestine Large	intestine
29	chr2:161027000-161027200	Enhancers	Gastric	stomach
30	chr2:161027000-161028400	Weak transcription	Fetal Kidney	kidney

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