Variant report

Variant	rs3111394
Chromosome Location	chr2:161015107-161015108
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:161014516..161016610-chr2:161055960..161058326,2	MCF-7	breast:
2	chr2:161009313..161012082-chr2:161014084..161016057,3	MCF-7	breast:
3	chr2:161011380..161016239-chr2:161062030..161067547,8	MCF-7	breast:
4	chr2:161011705..161015715-chr2:161083220..161088389,8	MCF-7	breast:
5	chr2:161012600..161015178-chr2:161083788..161087804,4	MCF-7	breast:
6	chr2:161011444..161016530-chr2:161074862..161081219,9	MCF-7	breast:
7	chr2:161012780..161016073-chr2:161064751..161067692,4	MCF-7	breast:
8	chr2:161012044..161015956-chr2:161077276..161081023,8	MCF-7	breast:
9	chr2:161014948..161017596-chr2:161095953..161098533,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115221	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11890990	1.00[YRI][hapmap]
rs2925764	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs2925765	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2966388	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3111396	1.00[AMR][1000 genomes]
rs58430965	0.86[AFR][1000 genomes]
rs60947267	0.89[AFR][1000 genomes]
rs6724949	1.00[YRI][hapmap]
rs73969108	0.92[AFR][1000 genomes]
rs73969110	0.89[AFR][1000 genomes]
rs7593257	0.92[AFR][1000 genomes]
rs7602804	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:43 , 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	chr2:160997200-161021800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:160999400-161022600	Weak transcription	Stomach Mucosa	stomach
6	chr2:161002600-161028400	Weak transcription	Lung	lung
7	chr2:161003000-161021400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:161005600-161022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:161005600-161026000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
11	chr2:161005800-161021800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:161012600-161015200	Enhancers	HSMM	muscle
13	chr2:161012800-161015200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:161012800-161015200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:161013600-161015200	Enhancers	HMEC	breast
16	chr2:161013600-161015400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:161013800-161015400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:161013800-161015400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:161013800-161016400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:161014200-161015200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:161014200-161015200	Enhancers	Hela-S3	cervix
22	chr2:161014200-161015800	Enhancers	Placenta	Placenta
23	chr2:161014200-161023600	Weak transcription	Osteobl	bone
24	chr2:161014400-161015200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:161014400-161015200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:161014400-161015200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:161014400-161015200	Enhancers	Fetal Kidney	kidney
28	chr2:161014600-161015200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:161014600-161015200	Enhancers	Ovary	ovary
30	chr2:161014600-161015400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr2:161014600-161016000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:161014600-161016200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:161014800-161015200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:161014800-161022200	Weak transcription	Left Ventricle	heart
35	chr2:161014800-161023600	Weak transcription	HSMMtube	muscle
36	chr2:161014800-161028200	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:161015000-161015200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:161015000-161015200	Enhancers	NHEK	skin
39	chr2:161015000-161016000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:161015000-161019600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:161015000-161022000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:161015000-161024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:161015000-161037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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