Variant report

Variant	rs7982883
Chromosome Location	chr13:94996889-94996890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:94996444..94998993-chr13:95005102..95008058,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28378852	0.85[AFR][1000 genomes]
rs58627646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551866	0.85[EUR][1000 genomes]
rs73551893	1.00[EUR][1000 genomes]
rs73551894	1.00[EUR][1000 genomes]
rs73551899	1.00[EUR][1000 genomes]
rs7981682	0.85[AFR][1000 genomes]
rs7986556	0.85[AFR][1000 genomes]
rs7986931	0.85[AFR][1000 genomes]
rs9516397	0.81[AFR][1000 genomes]
rs9524447	0.85[AFR][1000 genomes]
rs9524448	0.85[AFR][1000 genomes]

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	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv456077	chr13:94993032-95051560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv562755	chr13:94993032-95051560	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94980400-95000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94988200-94998000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:94990000-95003600	Weak transcription	Fetal Intestine Small	intestine
4	chr13:94994200-94998400	Enhancers	Fetal Stomach	stomach
5	chr13:94994600-94997200	Enhancers	Fetal Muscle Leg	muscle
6	chr13:94994600-94997200	Enhancers	Ovary	ovary
7	chr13:94994600-94998200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:94994800-94997800	Enhancers	Liver	Liver
9	chr13:94994800-94998200	Enhancers	HSMM	muscle
10	chr13:94994800-94998200	Enhancers	HSMMtube	muscle
11	chr13:94995000-94997000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:94995000-94998400	Enhancers	NHDF-Ad	bronchial
13	chr13:94995200-94997000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:94995200-94997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr13:94995200-94997200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr13:94995200-95004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:94995600-94997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:94995600-94997000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:94995600-94997000	Active TSS	Aorta	Aorta
20	chr13:94995600-94997200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:94995600-94998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:94995800-94997200	Enhancers	Fetal Lung	lung
23	chr13:94996000-94997000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:94996000-94997800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:94996000-94998000	Enhancers	NH-A	brain
26	chr13:94996000-95000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:94996200-94998000	Enhancers	HepG2	liver
28	chr13:94996400-94997000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:94996400-94997000	Enhancers	Brain Substantia Nigra	brain
30	chr13:94996400-94997600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:94996400-94997800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:94996400-94998000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr13:94996400-94998200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr13:94996600-94997000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr13:94996600-94997000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:94996600-94997000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr13:94996600-94997000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr13:94996600-94997000	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr13:94996600-94997000	Flanking Active TSS	Fetal Heart	heart
40	chr13:94996600-94997000	Flanking Active TSS	Fetal Kidney	kidney
41	chr13:94996600-94997000	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr13:94996600-94997000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr13:94996600-94997000	Flanking Active TSS	Osteobl	bone
44	chr13:94996600-94997200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr13:94996600-94997200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr13:94996600-94997200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr13:94996600-94997200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr13:94996600-94998000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:94996600-94998400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr13:94996600-94998400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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