Variant report

Variant	rs12717764
Chromosome Location	chr1:85920219-85920220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85920031..85922123-chr1:85928283..85929923,2	K562	blood:
2	chr1:85917225..85920485-chr1:85926526..85929082,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10493764	0.82[CEU][hapmap]
rs12123722	0.92[CHB][hapmap]
rs13373844	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1523993	0.82[CEU][hapmap];0.83[LWK][hapmap]
rs17127201	0.85[CHB][hapmap]
rs17127231	0.85[CHB][hapmap]
rs17127399	0.85[CHB][hapmap]
rs17127565	0.85[CHB][hapmap]
rs593728	0.85[CHB][hapmap]
rs648310	0.80[CHD][hapmap]
rs669173	0.83[CHD][hapmap]
rs7555486	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85901400-85923000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85913800-85920400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:85914200-85924800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:85915200-85927800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:85915600-85925400	Weak transcription	Brain Germinal Matrix	brain
6	chr1:85915800-85920600	Weak transcription	Small Intestine	intestine
7	chr1:85916400-85921800	Enhancers	Liver	Liver
8	chr1:85917000-85922200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:85917000-85923000	Weak transcription	Psoas Muscle	Psoas
10	chr1:85917400-85922400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:85917400-85926400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:85917400-85929400	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:85917400-85929400	Weak transcription	Gastric	stomach
14	chr1:85917400-85929800	Weak transcription	Esophagus	oesophagus
15	chr1:85917600-85921600	Enhancers	Fetal Lung	lung
16	chr1:85917800-85927200	Weak transcription	NH-A	brain
17	chr1:85917800-85928800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:85918200-85920600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:85918200-85921400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85918400-85920800	Enhancers	Colon Smooth Muscle	Colon
21	chr1:85918600-85920800	Enhancers	Fetal Stomach	stomach
22	chr1:85918800-85920600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:85918800-85920600	Enhancers	HepG2	liver
24	chr1:85918800-85923600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:85919000-85920400	Enhancers	NHLF	lung
26	chr1:85919000-85920800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:85919000-85922000	Enhancers	HUVEC	blood vessel
28	chr1:85919200-85920800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:85919200-85928400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:85919400-85920800	Genic enhancers	HSMMtube	muscle
31	chr1:85919400-85924800	Weak transcription	Fetal Kidney	kidney
32	chr1:85919400-85927200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:85919600-85921400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:85919600-85928200	Weak transcription	Fetal Brain Female	brain
35	chr1:85919800-85920400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:85919800-85925000	Weak transcription	Adipose Nuclei	Adipose
37	chr1:85920000-85920600	Genic enhancers	NHDF-Ad	bronchial
38	chr1:85920000-85921400	Enhancers	Osteobl	bone
39	chr1:85920000-85922600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:85920000-85923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:85920000-85924800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:85920000-85925000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:85920000-85925000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:85920000-85929600	Weak transcription	Brain Substantia Nigra	brain
45	chr1:85920200-85920600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:85920200-85921400	Strong transcription	HSMM	muscle
47	chr1:85920200-85922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:85920200-85922600	Weak transcription	Fetal Intestine Small	intestine
49	chr1:85920200-85923000	Weak transcription	Pancreas	Pancrea
50	chr1:85920200-85925000	Weak transcription	Aorta	Aorta

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