Variant report

Variant	rs12082689
Chromosome Location	chr1:149972358-149972359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149949788..149952125-chr1:149969648..149972442,2	MCF-7	breast:
2	chr1:149970241..149972986-chr1:150000025..150002958,2	K562	blood:
3	chr1:149857332..149858962-chr1:149970952..149972466,2	MCF-7	breast:
4	chr1:149970593..149972989-chr1:149993853..149996794,2	K562	blood:
5	chr1:149971779..149974437-chr1:150010211..150012931,2	MCF-7	breast:
6	chr1:149970611..149976908-chr1:149978466..149983585,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184678	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10494260	0.90[ASN][1000 genomes]
rs11205309	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11205310	0.99[ASN][1000 genomes]
rs12023748	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12026500	0.90[ASN][1000 genomes]
rs3738320	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767627	0.90[ASN][1000 genomes]
rs3767628	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3936952	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926400	0.87[ASN][1000 genomes]
rs58700306	0.83[AMR][1000 genomes]
rs6660842	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72692821	0.85[ASN][1000 genomes]
rs7551741	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149948200-149973000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:149948200-149977400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:149948200-149981000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:149948400-149981400	Weak transcription	Esophagus	oesophagus
5	chr1:149949400-149975400	Weak transcription	Placenta	Placenta
6	chr1:149949600-149974400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:149952200-149980800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:149953000-149978800	Weak transcription	Pancreas	Pancrea
9	chr1:149957800-149978600	Weak transcription	Spleen	Spleen
10	chr1:149958800-149973400	Weak transcription	Aorta	Aorta
11	chr1:149959400-149975800	Weak transcription	Fetal Kidney	kidney
12	chr1:149959600-149975400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:149960000-149975400	Weak transcription	Hela-S3	cervix
14	chr1:149965000-149972400	Enhancers	Brain Angular Gyrus	brain
15	chr1:149965000-149978400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:149965000-149981400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:149965200-149976000	Weak transcription	Lung	lung
18	chr1:149965400-149975600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:149966200-149973200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:149966200-149974400	Weak transcription	Brain Germinal Matrix	brain
21	chr1:149967400-149978600	Weak transcription	Gastric	stomach
22	chr1:149967800-149981200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:149968000-149972800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:149968200-149973200	Weak transcription	Right Atrium	heart
25	chr1:149968200-149980800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:149968400-149972800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:149968400-149973600	Weak transcription	A549	lung
28	chr1:149968400-149980800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:149968600-149980000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:149969000-149973200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:149969000-149973200	Weak transcription	HSMMtube	muscle
32	chr1:149969000-149973400	Weak transcription	Ovary	ovary
33	chr1:149969000-149973400	Weak transcription	Right Ventricle	heart
34	chr1:149969000-149975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:149969000-149977000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:149969000-149980800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:149969600-149973000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:149969600-149974400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:149969600-149978600	Weak transcription	HepG2	liver
40	chr1:149969600-149978800	Weak transcription	HMEC	breast
41	chr1:149969800-149973600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:149969800-149976800	Weak transcription	NHEK	skin
43	chr1:149969800-149979000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:149969800-149979800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:149969800-149981400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:149970000-149974400	Weak transcription	Fetal Lung	lung
47	chr1:149970000-149975200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:149970000-149975400	Weak transcription	Psoas Muscle	Psoas
49	chr1:149970000-149977200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:149970000-149978600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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