Variant report

Variant	rs12681956
Chromosome Location	chr8:99594788-99594789
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99586001..99587844-chr8:99593892..99596537,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10092680	1.00[CEU][hapmap]
rs13248540	1.00[LWK][hapmap]
rs28784957	1.00[CHD][hapmap]
rs35696573	1.00[LWK][hapmap]
rs7825755	1.00[JPT][hapmap]
rs7831149	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1030498	chr8:99545493-99607093	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:99556200-99606200	Weak transcription	Psoas Muscle	Psoas
2	chr8:99559600-99596200	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:99559800-99601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:99560400-99602200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:99578200-99610000	Weak transcription	HSMMtube	muscle
6	chr8:99583400-99602200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:99584600-99602400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:99585800-99602200	Weak transcription	Pancreas	Pancrea
9	chr8:99585800-99609800	Weak transcription	Small Intestine	intestine
10	chr8:99586200-99602000	Weak transcription	Fetal Intestine Large	intestine
11	chr8:99586600-99603800	Weak transcription	HSMM	muscle
12	chr8:99587000-99602000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:99587000-99602400	Weak transcription	Adipose Nuclei	Adipose
14	chr8:99587000-99611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:99587200-99610000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:99587200-99610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:99587200-99610800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:99587200-99613200	Weak transcription	GM12878-XiMat	blood
19	chr8:99587400-99603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:99587400-99610800	Weak transcription	NHDF-Ad	bronchial
21	chr8:99587600-99602400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:99587600-99610400	Weak transcription	HMEC	breast
23	chr8:99587600-99611000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:99587800-99602200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:99587800-99602600	Weak transcription	Liver	Liver
26	chr8:99587800-99610600	Weak transcription	NHEK	skin
27	chr8:99587800-99611000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:99588000-99602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:99588000-99612000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:99588000-99616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:99588200-99615200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:99588800-99603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:99589200-99601600	Weak transcription	Fetal Intestine Small	intestine
34	chr8:99589400-99602800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:99590000-99602200	Weak transcription	Ovary	ovary
36	chr8:99590000-99602600	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:99590200-99602400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:99590400-99602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:99590600-99610600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:99590600-99610600	Weak transcription	Fetal Lung	lung
41	chr8:99591000-99607200	Weak transcription	Dnd41	blood
42	chr8:99591400-99602200	Weak transcription	Placenta	Placenta
43	chr8:99591600-99601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:99592000-99602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:99592000-99610800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:99593400-99602000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:99593800-99598200	Weak transcription	Fetal Stomach	stomach
48	chr8:99593800-99601600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:99593800-99606200	Weak transcription	Aorta	Aorta
50	chr8:99594000-99602400	Weak transcription	Left Ventricle	heart

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