Variant report

Variant	rs6462944
Chromosome Location	chr7:39800036-39800037
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11764316	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11769907	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17508696	1.00[AFR][1000 genomes]
rs7777339	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7810999	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[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	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv970820	chr7:39797964-39839303	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39774200-39807400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:39775800-39807000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:39775800-39811200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:39782400-39809000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:39784800-39802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:39789600-39807200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:39793400-39802000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
11	chr7:39794200-39801200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:39794200-39820800	Weak transcription	Ovary	ovary
13	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:39794600-39800800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:39794600-39808800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:39794600-39810200	Weak transcription	Fetal Stomach	stomach
17	chr7:39794600-39830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:39795000-39802600	Weak transcription	NHDF-Ad	bronchial
19	chr7:39795000-39802800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:39795200-39802400	Weak transcription	NH-A	brain
21	chr7:39795200-39807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:39795400-39813000	Weak transcription	GM12878-XiMat	blood
23	chr7:39795400-39833400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:39795800-39811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:39797600-39801400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:39797800-39801200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:39797800-39802400	Weak transcription	Thymus	Thymus
28	chr7:39798000-39800600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:39798000-39800600	Weak transcription	NHEK	skin
30	chr7:39798000-39800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:39798000-39801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:39798000-39802400	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:39798000-39804200	Weak transcription	Stomach Mucosa	stomach
34	chr7:39798000-39807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:39798000-39811800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:39798200-39802400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:39798200-39802400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:39798200-39802400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:39798200-39808200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:39798200-39820800	Weak transcription	Esophagus	oesophagus
41	chr7:39798200-39831000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:39798400-39807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:39798400-39810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:39798400-39830800	Weak transcription	Fetal Intestine Small	intestine
45	chr7:39798600-39802200	Weak transcription	HSMMtube	muscle
46	chr7:39798600-39807200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:39798800-39800800	Weak transcription	HMEC	breast
48	chr7:39798800-39801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:39799000-39801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:39799000-39821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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