Variant report

Variant	rs12032315
Chromosome Location	chr1:85927407-85927408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85917225..85920485-chr1:85926526..85929082,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10873703	0.83[ASN][1000 genomes]
rs12038426	0.81[AMR][1000 genomes]
rs12044882	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1261681	0.84[ASN][1000 genomes]
rs17388696	0.84[ASN][1000 genomes]
rs3851268	0.83[ASN][1000 genomes]
rs4949905	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs499869	0.84[ASN][1000 genomes]
rs539714	0.83[ASN][1000 genomes]
rs600098	0.87[ASN][1000 genomes]
rs604974	0.84[ASN][1000 genomes]
rs631817	0.84[ASN][1000 genomes]
rs659070	0.87[ASN][1000 genomes]
rs72722691	0.81[AMR][1000 genomes]
rs72722692	0.81[AMR][1000 genomes]
rs990916	0.82[ASN][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85915200-85927800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85917400-85929400	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:85917400-85929400	Weak transcription	Gastric	stomach
4	chr1:85917400-85929800	Weak transcription	Esophagus	oesophagus
5	chr1:85917800-85928800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:85919200-85928400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:85919600-85928200	Weak transcription	Fetal Brain Female	brain
8	chr1:85920000-85929600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:85920200-85928000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:85920800-85929000	Weak transcription	HSMMtube	muscle
11	chr1:85922600-85928400	Enhancers	Fetal Intestine Large	intestine
12	chr1:85922600-85929000	Enhancers	Fetal Intestine Small	intestine
13	chr1:85923200-85929800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:85923600-85928200	Enhancers	Liver	Liver
15	chr1:85924400-85927800	Weak transcription	Pancreas	Pancrea
16	chr1:85924600-85927800	Enhancers	HUVEC	blood vessel
17	chr1:85924800-85928400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:85925000-85928600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:85925000-85928800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:85925000-85929200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:85925200-85929400	Weak transcription	Aorta	Aorta
22	chr1:85925400-85928000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:85925400-85928200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:85925400-85929000	Weak transcription	Fetal Stomach	stomach
25	chr1:85925400-85929200	Weak transcription	Adipose Nuclei	Adipose
26	chr1:85925600-85928000	Weak transcription	Fetal Brain Male	brain
27	chr1:85925800-85928200	Weak transcription	Brain Germinal Matrix	brain
28	chr1:85925800-85929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:85926000-85928000	Enhancers	Fetal Kidney	kidney
30	chr1:85926000-85928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:85926200-85927800	Weak transcription	HSMM	muscle
32	chr1:85926200-85928400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:85926400-85928400	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:85926400-85929000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:85926400-85929200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr1:85926400-85929400	Weak transcription	NHEK	skin
37	chr1:85926600-85928400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:85926600-85929400	Weak transcription	Ovary	ovary
39	chr1:85926600-85929400	Weak transcription	HMEC	breast
40	chr1:85926800-85927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:85926800-85928400	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:85926800-85928600	Weak transcription	A549	lung
43	chr1:85926800-85929000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:85926800-85929800	Weak transcription	Placenta	Placenta
45	chr1:85927000-85928000	Enhancers	Fetal Lung	lung
46	chr1:85927000-85928200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:85927000-85928200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:85927000-85928400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:85927000-85929200	Flanking Active TSS	HepG2	liver
50	chr1:85927200-85928000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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