Variant report

Variant	rs17390740
Chromosome Location	chr1:86014981-86014982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86014038..86016733-chr1:86045294..86047905,2	MCF-7	breast:
2	chr1:86004352..86007368-chr1:86013128..86016608,3	MCF-7	breast:
3	chr1:86014905..86019706-chr1:86042363..86049373,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272691	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17127878	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2297138	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2297139	0.90[AFR][1000 genomes];0.83[AMR][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	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86009000-86016200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:86010800-86015000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:86010800-86020200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:86011000-86016200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:86011000-86016200	Weak transcription	NHEK	skin
6	chr1:86011000-86016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:86011000-86016400	Weak transcription	Pancreas	Pancrea
8	chr1:86011000-86016600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:86011000-86016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:86011000-86018800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:86011000-86019200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:86011000-86019200	Weak transcription	Left Ventricle	heart
13	chr1:86011200-86016400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:86011200-86016400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:86011200-86016600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:86011400-86015800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:86011400-86016000	Weak transcription	HMEC	breast
18	chr1:86011400-86016200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:86011600-86016000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:86011600-86016000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:86011600-86016600	Weak transcription	Fetal Stomach	stomach
22	chr1:86011600-86016800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:86011600-86016800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:86011600-86019600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:86011600-86020800	Weak transcription	Hela-S3	cervix
26	chr1:86011600-86035200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:86011800-86016400	Weak transcription	HSMMtube	muscle
28	chr1:86011800-86016600	Weak transcription	HUVEC	blood vessel
29	chr1:86011800-86019600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:86012000-86015000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:86012000-86016200	Weak transcription	Fetal Lung	lung
32	chr1:86012200-86015800	Weak transcription	A549	lung
33	chr1:86012200-86019400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:86012400-86015000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:86012800-86016200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:86012800-86016600	Genic enhancers	Osteobl	bone
37	chr1:86013000-86016000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:86013000-86016000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:86013000-86016000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:86013000-86016400	Weak transcription	NHLF	lung
41	chr1:86013400-86016400	Weak transcription	Aorta	Aorta
42	chr1:86014000-86016600	Weak transcription	NHDF-Ad	bronchial
43	chr1:86014200-86016400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:86014200-86019400	Weak transcription	Fetal Heart	heart
45	chr1:86014400-86015400	Strong transcription	NH-A	brain
46	chr1:86014600-86015400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:86014600-86015600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:86014600-86017800	Genic enhancers	HSMM	muscle
49	chr1:86014800-86015200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:86014800-86015200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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