Variant report

Variant	rs10955847
Chromosome Location	chr8:119002444-119002445
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	chr8:118998954..119002808-chr8:119123412..119126433,4	MCF-7	breast:
2	chr8:119000472..119003306-chr8:119019524..119021773,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10955843	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10955844	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955845	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12542183	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12543161	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17431284	0.93[CHB][hapmap]
rs2014742	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2126630	0.81[ASN][1000 genomes]
rs6983986	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs7834892	0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9650072	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
4	chr8:118994000-119005800	Weak transcription	Psoas Muscle	Psoas
5	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
6	chr8:118994200-119004200	Weak transcription	Fetal Stomach	stomach
7	chr8:118997800-119004800	Weak transcription	Fetal Thymus	thymus
8	chr8:118998400-119006800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:118998600-119006600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:118999000-119004600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:118999600-119003000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:118999600-119003000	Enhancers	Left Ventricle	heart
13	chr8:118999600-119007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:119000000-119006400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:119000200-119002600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:119000200-119003600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:119000600-119003000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr8:119000600-119003000	Enhancers	Right Atrium	heart
19	chr8:119000600-119003200	Enhancers	Small Intestine	intestine
20	chr8:119000600-119003200	Enhancers	NHDF-Ad	bronchial
21	chr8:119000800-119002600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:119000800-119002800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:119000800-119002800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:119000800-119002800	Enhancers	Aorta	Aorta
25	chr8:119000800-119002800	Enhancers	Colonic Mucosa	Colon
26	chr8:119000800-119003000	Enhancers	Placenta	Placenta
27	chr8:119000800-119003000	Enhancers	Spleen	Spleen
28	chr8:119000800-119003200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:119000800-119003200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:119000800-119003400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:119000800-119003400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:119000800-119003400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:119000800-119003400	Enhancers	Lung	lung
34	chr8:119000800-119005200	Enhancers	Pancreas	Pancrea
35	chr8:119000800-119006000	Enhancers	NHLF	lung
36	chr8:119001000-119005400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr8:119001200-119003200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:119001200-119003200	Enhancers	Stomach Smooth Muscle	stomach
39	chr8:119001200-119004800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:119001200-119004800	Weak transcription	Ovary	ovary
41	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:119001400-119002800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:119001400-119002800	Enhancers	Brain Anterior Caudate	brain
44	chr8:119001400-119003000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:119001400-119003000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:119001400-119003000	Enhancers	Brain Substantia Nigra	brain
47	chr8:119001400-119003000	Enhancers	Fetal Intestine Small	intestine
48	chr8:119001400-119003200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:119001400-119003200	Enhancers	Adipose Nuclei	Adipose
50	chr8:119001400-119003200	Enhancers	Brain Hippocampus Middle	brain

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