Variant report

Variant	rs72673976
Chromosome Location	chr8:118968511-118968512
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	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:
2	chr8:118962356..118964780-chr8:118967876..118970039,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17453427	1.00[AMR][1000 genomes];1.00[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	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	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118959400-118968800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:118960600-118969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:118960600-118971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:118961200-118969200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:118961400-118969000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:118962800-118969200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:118963800-118968600	Weak transcription	Stomach Mucosa	stomach
8	chr8:118965200-118970200	Weak transcription	HepG2	liver
9	chr8:118965400-118968600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:118965400-118969200	Enhancers	Osteobl	bone
11	chr8:118965600-118969000	Enhancers	Right Atrium	heart
12	chr8:118965800-118969200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:118966200-118969000	Enhancers	NHLF	lung
14	chr8:118966200-118969400	Enhancers	NHDF-Ad	bronchial
15	chr8:118966200-118970000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:118966200-118970000	Enhancers	Left Ventricle	heart
17	chr8:118966400-118969000	Enhancers	HSMM	muscle
18	chr8:118966400-118969200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:118966400-118970000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:118966600-118968800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:118966600-118969200	Weak transcription	Psoas Muscle	Psoas
22	chr8:118966600-118969400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:118966600-118971400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:118966800-118971400	Weak transcription	Pancreas	Pancrea
25	chr8:118966800-118971800	Weak transcription	Right Ventricle	heart
26	chr8:118967000-118969000	Enhancers	NH-A	brain
27	chr8:118967000-118969000	Enhancers	NHEK	skin
28	chr8:118967000-118970200	Enhancers	HMEC	breast
29	chr8:118967000-118972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:118967200-118969000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:118967200-118970600	Enhancers	Fetal Lung	lung
32	chr8:118967200-118971800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:118967400-118969200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:118967400-118971800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:118967600-118969000	Enhancers	Colon Smooth Muscle	Colon
36	chr8:118967600-118971600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:118967800-118969200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:118967800-118969400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:118967800-118969800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:118967800-118969800	Enhancers	Fetal Muscle Trunk	muscle
41	chr8:118967800-118969800	Enhancers	Lung	lung
42	chr8:118967800-118970200	Enhancers	Small Intestine	intestine
43	chr8:118967800-118970400	Enhancers	Fetal Heart	heart
44	chr8:118968000-118968600	Enhancers	Aorta	Aorta
45	chr8:118968000-118968800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:118968000-118968800	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:118968000-118968800	Enhancers	Stomach Smooth Muscle	stomach
48	chr8:118968000-118969000	Enhancers	Adipose Nuclei	Adipose
49	chr8:118968000-118969000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr8:118968000-118969200	Enhancers	Ovary	ovary

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