Variant report

Variant	rs7536272
Chromosome Location	chr1:46643093-46643094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:46643060-46643394	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:46641730..46644233-chr1:46656558..46658079,2	K562	blood:
2	chr1:46592691..46601867-chr1:46642778..46650670,25	MCF-7	breast:
3	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
4	chr1:46500117..46505906-chr1:46642218..46647717,9	K562	blood:

Variant related genes	Relation type
ENSG00000250719	TF binding region
PIK3R3	TF binding region
ENSG00000227857	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000085998	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10493121	0.80[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes]
rs1112471	0.82[JPT][hapmap]
rs11211258	0.87[AMR][1000 genomes]
rs11211259	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12029005	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12029134	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12029936	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12064594	0.88[AMR][1000 genomes]
rs12134419	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1618281	0.84[JPT][hapmap];0.88[AMR][1000 genomes]
rs3753363	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820082	0.95[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3845300	0.84[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3845301	0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs3855959	0.91[JPT][hapmap]
rs6661071	0.88[AMR][1000 genomes]
rs6671303	0.91[JPT][hapmap]
rs6686661	0.81[ASN][1000 genomes]
rs7512966	0.84[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1006530	chr1:46544842-46655484	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv534949	chr1:46544842-46655484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46637800-46649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:46638000-46645000	Weak transcription	HMEC	breast
3	chr1:46639400-46645600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:46639400-46653800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:46639600-46652800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:46639800-46644800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:46639800-46644800	Weak transcription	NH-A	brain
8	chr1:46639800-46645000	Weak transcription	Fetal Lung	lung
9	chr1:46639800-46645200	Weak transcription	Fetal Brain Male	brain
10	chr1:46639800-46645800	Weak transcription	Colonic Mucosa	Colon
11	chr1:46640200-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:46640200-46645000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:46640200-46645200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:46640400-46645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:46640400-46645000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:46640400-46645200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:46640600-46645000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:46640600-46645000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:46640600-46645200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:46640600-46648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:46640800-46644600	Weak transcription	Fetal Intestine Small	intestine
22	chr1:46640800-46645000	Weak transcription	A549	lung
23	chr1:46640800-46645000	Weak transcription	NHEK	skin
24	chr1:46640800-46645000	Weak transcription	Osteobl	bone
25	chr1:46640800-46645200	Weak transcription	Pancreas	Pancrea
26	chr1:46640800-46645600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:46640800-46656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:46641000-46644800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:46641000-46644800	Weak transcription	Fetal Intestine Large	intestine
30	chr1:46641000-46645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:46641000-46645000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:46641000-46645000	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:46641000-46645200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:46641000-46645200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:46641000-46645200	Weak transcription	NHLF	lung
36	chr1:46641000-46645400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:46641000-46645400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:46641000-46645400	Weak transcription	Stomach Mucosa	stomach
39	chr1:46641000-46645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:46641000-46645800	Weak transcription	Gastric	stomach
41	chr1:46641000-46648600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:46641200-46644200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:46641200-46644600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:46641200-46644800	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:46641200-46645000	Weak transcription	Adipose Nuclei	Adipose
46	chr1:46641200-46645000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:46641200-46645000	Weak transcription	Fetal Thymus	thymus
48	chr1:46641200-46645000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:46641200-46645000	Weak transcription	GM12878-XiMat	blood
50	chr1:46641200-46645200	Weak transcription	Brain Substantia Nigra	brain

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