Variant report

Variant	rs6682295
Chromosome Location	chr1:10239197-10239198
allele	A/G
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:3)

rs_ID	r²[population]
rs11812055	0.91[AMR][1000 genomes]
rs6702375	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7546642	0.94[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
4	chr1:10230800-10241200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
6	chr1:10231400-10242200	Strong transcription	Fetal Intestine Small	intestine
7	chr1:10231800-10239800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:10232000-10239400	Weak transcription	Pancreas	Pancrea
9	chr1:10232400-10239400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:10232800-10246800	Weak transcription	Fetal Kidney	kidney
11	chr1:10233000-10239600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:10233200-10239400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:10233200-10240200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:10233200-10240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:10233200-10241800	Weak transcription	A549	lung
16	chr1:10233200-10242400	Weak transcription	Fetal Heart	heart
17	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
18	chr1:10233400-10239400	Weak transcription	Colonic Mucosa	Colon
19	chr1:10233800-10239200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:10233800-10239600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:10234000-10239200	Weak transcription	GM12878-XiMat	blood
22	chr1:10234000-10239200	Weak transcription	HSMMtube	muscle
23	chr1:10234000-10239400	Weak transcription	HMEC	breast
24	chr1:10234200-10239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:10234200-10239400	Weak transcription	Gastric	stomach
26	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:10235200-10239800	Weak transcription	NH-A	brain
28	chr1:10235400-10239200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:10235400-10239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:10235400-10239400	Weak transcription	Aorta	Aorta
31	chr1:10235600-10240000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:10235800-10241800	Strong transcription	Liver	Liver
33	chr1:10236200-10239200	Weak transcription	Ovary	ovary
34	chr1:10236400-10239600	Weak transcription	Primary B cells from cord blood	blood
35	chr1:10236400-10239600	Weak transcription	Fetal Lung	lung
36	chr1:10236400-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:10236400-10258200	Weak transcription	HSMM	muscle
38	chr1:10236600-10239200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:10236600-10239400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:10236600-10239400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:10236800-10239200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:10237000-10241400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:10237000-10242200	Strong transcription	Fetal Stomach	stomach
44	chr1:10237200-10241800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:10237800-10239400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:10237800-10239600	Genic enhancers	Placenta	Placenta
47	chr1:10237800-10240600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:10237800-10241000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:10237800-10241200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:10237800-10241200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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