Variant report

Variant	rs16987338
Chromosome Location	chr2:20265682-20265683
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20260076..20261703-chr2:20264004..20266915,2	MCF-7	breast:
2	chr2:20238154..20239893-chr2:20264593..20266386,2	MCF-7	breast:
3	chr2:20263163..20266090-chr2:20292667..20294337,2	MCF-7	breast:
4	chr2:20227551..20229424-chr2:20265171..20267107,2	MCF-7	breast:
5	chr2:20263567..20266524-chr2:20270563..20273787,4	K562	blood:
6	chr2:20263940..20267235-chr2:20290862..20294236,4	MCF-7	breast:
7	chr2:20243842..20246309-chr2:20264412..20267359,3	MCF-7	breast:
8	chr2:20211794..20216252-chr2:20264729..20268156,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132031	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016316	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs11674251	0.94[CEU][hapmap];0.92[JPT][hapmap]
rs11689320	0.95[EUR][1000 genomes]
rs11689431	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs11694170	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11695154	0.93[EUR][1000 genomes]
rs1191805	0.80[EUR][1000 genomes]
rs1191817	0.81[EUR][1000 genomes]
rs12988954	0.89[CEU][hapmap];0.92[JPT][hapmap]
rs13405657	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1473890	0.88[EUR][1000 genomes]
rs1513830	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1513831	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28874059	0.81[AFR][1000 genomes]
rs34539547	0.94[CEU][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs36071721	0.87[EUR][1000 genomes]
rs3731673	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769759	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769760	0.94[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769762	0.94[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62109431	0.92[EUR][1000 genomes]
rs6706375	0.94[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6720508	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558777	0.86[EUR][1000 genomes]
rs7558988	0.84[EUR][1000 genomes]
rs7570360	0.92[EUR][1000 genomes]
rs7587612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20252400-20266000	Weak transcription	Pancreas	Pancrea
2	chr2:20260600-20266600	Enhancers	Fetal Muscle Leg	muscle
3	chr2:20261800-20266800	Enhancers	Placenta	Placenta
4	chr2:20262200-20265800	Weak transcription	Right Ventricle	heart
5	chr2:20262800-20267600	Weak transcription	Fetal Kidney	kidney
6	chr2:20262800-20267600	Weak transcription	Fetal Lung	lung
7	chr2:20263200-20265800	Weak transcription	Fetal Stomach	stomach
8	chr2:20263200-20265800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:20263400-20265800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:20263400-20266600	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:20263600-20265800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:20264000-20266400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:20264000-20266800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:20264200-20265800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:20264200-20265800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:20264200-20268600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20264200-20268600	Enhancers	HMEC	breast
18	chr2:20264200-20268600	Enhancers	NHEK	skin
19	chr2:20264400-20268600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:20264400-20268600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:20264800-20266600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:20265000-20265800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:20265000-20266600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:20265400-20266400	Enhancers	Brain Germinal Matrix	brain
25	chr2:20265400-20266400	Flanking Active TSS	Hela-S3	cervix
26	chr2:20265400-20268600	Enhancers	HSMMtube	muscle
27	chr2:20265600-20265800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:20265600-20265800	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:20265600-20266000	Enhancers	HSMM	muscle
30	chr2:20265600-20266000	Enhancers	Osteobl	bone
31	chr2:20265600-20266200	Enhancers	Brain Substantia Nigra	brain
32	chr2:20265600-20266400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:20265600-20266400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:20265600-20266400	Enhancers	NHLF	lung
35	chr2:20265600-20266600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:20265600-20266600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:20265600-20266600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:20265600-20266600	Enhancers	Esophagus	oesophagus
39	chr2:20265600-20266600	Enhancers	Fetal Heart	heart
40	chr2:20265600-20266600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:20265600-20266600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:20265600-20266600	Enhancers	Stomach Mucosa	stomach
43	chr2:20265600-20266600	Flanking Active TSS	A549	lung
44	chr2:20265600-20266600	Flanking Active TSS	HepG2	liver
45	chr2:20265600-20266800	Enhancers	Colonic Mucosa	Colon
46	chr2:20265600-20268600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:20265600-20268600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:20265600-20268600	Enhancers	Adipose Nuclei	Adipose
49	chr2:20265600-20268600	Enhancers	Colon Smooth Muscle	Colon

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