Variant report

Variant	rs6964982
Chromosome Location	chr7:140273891-140273892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10227869	1.00[EUR][1000 genomes]
rs11973083	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11982424	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11983453	1.00[EUR][1000 genomes]
rs269251	1.00[EUR][1000 genomes]
rs269252	1.00[EUR][1000 genomes]
rs269253	1.00[EUR][1000 genomes]
rs269260	1.00[EUR][1000 genomes]
rs55816014	1.00[EUR][1000 genomes]
rs56711326	1.00[EUR][1000 genomes]
rs57565761	1.00[EUR][1000 genomes]
rs57960333	1.00[EUR][1000 genomes]
rs58118476	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59489402	1.00[EUR][1000 genomes]
rs60480710	1.00[EUR][1000 genomes]
rs60901124	1.00[EUR][1000 genomes]
rs61333130	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61737088	1.00[EUR][1000 genomes]
rs61737090	1.00[EUR][1000 genomes]
rs6952059	1.00[EUR][1000 genomes]
rs6957365	1.00[EUR][1000 genomes]
rs6964971	1.00[EUR][1000 genomes]
rs6972562	1.00[EUR][1000 genomes]
rs6979290	1.00[EUR][1000 genomes]
rs73491595	1.00[EUR][1000 genomes]
rs73502154	1.00[EUR][1000 genomes]
rs73736617	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73736622	1.00[EUR][1000 genomes]
rs73736632	1.00[EUR][1000 genomes]
rs73736633	1.00[EUR][1000 genomes]
rs7795017	1.00[EUR][1000 genomes]
rs7804236	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140247000-140276400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
3	chr7:140261800-140284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:140263400-140278400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:140263800-140274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:140263800-140276000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:140263800-140277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:140263800-140286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:140263800-140303600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:140263800-140303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:140263800-140305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:140264600-140290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:140265200-140304400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:140265800-140274000	Strong transcription	Fetal Brain Female	brain
16	chr7:140266200-140275400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:140266400-140285200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:140267600-140274800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:140267600-140281000	Strong transcription	Fetal Muscle Leg	muscle
20	chr7:140267800-140274200	Strong transcription	Brain Germinal Matrix	brain
21	chr7:140267800-140275000	Strong transcription	Fetal Stomach	stomach
22	chr7:140267800-140275200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:140267800-140281000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:140267800-140281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:140267800-140283000	Weak transcription	Liver	Liver
26	chr7:140267800-140285000	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:140267800-140285000	Weak transcription	NH-A	brain
28	chr7:140267800-140290600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:140267800-140291200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:140267800-140300800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:140267800-140326000	Weak transcription	Gastric	stomach
32	chr7:140268200-140274200	Strong transcription	Ovary	ovary
33	chr7:140268400-140274600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:140268400-140281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:140268400-140281000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr7:140268600-140274800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:140268600-140278200	Weak transcription	Fetal Heart	heart
38	chr7:140269400-140282000	Weak transcription	Lung	lung
39	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
40	chr7:140270200-140274600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:140271400-140274000	Strong transcription	Fetal Kidney	kidney
42	chr7:140271400-140274200	Strong transcription	Adipose Nuclei	Adipose
43	chr7:140271400-140274400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr7:140271400-140274600	Strong transcription	Fetal Lung	lung
45	chr7:140271800-140274400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:140272200-140287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:140272600-140274000	Strong transcription	NHDF-Ad	bronchial
48	chr7:140272600-140274400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:140272800-140274000	Strong transcription	Brain Substantia Nigra	brain
50	chr7:140272800-140274200	Strong transcription	Placenta	Placenta

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