Variant report

Variant	rs10092644
Chromosome Location	chr8:118876247-118876248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:118875478..118876394-chr8:119340079..119340635,2	MCF-7	breast:
2	chr8:118875517..118876420-chr8:119426479..119427389,2	MCF-7	breast:
3	chr8:118874390..118877427-chr8:119122549..119125397,3	MCF-7	breast:
4	chr8:118875550..118876436-chr8:119132581..119133620,6	MCF-7	breast:
5	chr8:118875598..118876393-chr8:119120271..119121636,4	MCF-7	breast:
6	chr8:118875539..118876407-chr8:119132500..119133350,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10093485	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093528	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093804	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093862	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17474957	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503754	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503858	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28429104	0.95[AFR][1000 genomes]
rs28429478	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28457164	0.95[AFR][1000 genomes]
rs28623589	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28628256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28797210	0.85[AFR][1000 genomes]
rs57678728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57933780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3503420	chr8:118873121-118876619	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3503421	chr8:118873121-118876619	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612034	chr8:118874307-118879130	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv612035	chr8:118874307-118881866	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118861400-118878600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:118861600-118878200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:118863200-118879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:118864200-118878600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:118870000-118876600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:118872600-118876400	Enhancers	Colon Smooth Muscle	Colon
7	chr8:118872800-118876400	Enhancers	Liver	Liver
8	chr8:118873200-118876400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
10	chr8:118874000-118881200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:118874200-118876400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:118874200-118876600	Enhancers	NHDF-Ad	bronchial
13	chr8:118874200-118876800	Enhancers	A549	lung
14	chr8:118874200-118878000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:118874400-118876400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:118874400-118876400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:118874600-118876400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr8:118874600-118876400	Enhancers	NHEK	skin
19	chr8:118874600-118876800	Enhancers	Fetal Heart	heart
20	chr8:118874800-118876400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:118874800-118876400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:118874800-118876400	Enhancers	Left Ventricle	heart
23	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:118875000-118876600	Genic enhancers	Osteobl	bone
25	chr8:118875000-118878600	Weak transcription	HSMMtube	muscle
26	chr8:118875200-118880800	Weak transcription	Lung	lung
27	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:118875600-118878600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:118875600-118878600	Weak transcription	HMEC	breast
30	chr8:118875600-118888000	Weak transcription	Hela-S3	cervix
31	chr8:118875800-118876400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:118875800-118876600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:118875800-118879400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:118876000-118876400	Enhancers	Fetal Intestine Small	intestine
35	chr8:118876000-118876600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:118876000-118878000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:118876000-118878600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:118876000-118879600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:118876000-118879600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:118876000-118879800	Weak transcription	HSMM	muscle
41	chr8:118876000-118880400	Weak transcription	Pancreas	Pancrea
42	chr8:118876200-118876400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:118876200-118876600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:118876200-118876800	Enhancers	Aorta	Aorta
45	chr8:118876200-118877600	Weak transcription	NH-A	brain
46	chr8:118876200-118878600	Weak transcription	Ovary	ovary
47	chr8:118876200-118878600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:118876200-118878600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:118876200-118878600	Weak transcription	NHLF	lung
50	chr8:118876200-118880000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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