Variant report

Variant	rs2312930
Chromosome Location	chr6:76202997-76202998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1414590	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1932522	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2313962	0.81[AFR][1000 genomes]
rs2951921	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4706593	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4706594	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4708185	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6908400	1.00[JPT][hapmap]
rs6917760	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs73749653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73749665	1.00[ASN][1000 genomes]
rs9359126	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
8	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv603770	chr6:76200514-76277296	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76194600-76203200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:76194600-76204600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:76197200-76204200	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:76197800-76204800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr6:76198000-76204000	Active TSS	Colon Smooth Muscle	Colon
6	chr6:76198000-76204200	Active TSS	Right Atrium	heart
7	chr6:76198200-76203200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:76198600-76204000	Active TSS	Aorta	Aorta
9	chr6:76199000-76203000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:76199000-76204000	Active TSS	Rectal Smooth Muscle	rectum
11	chr6:76199000-76204400	Active TSS	A549	lung
12	chr6:76199200-76204200	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr6:76199400-76203400	Weak transcription	HUVEC	blood vessel
14	chr6:76200000-76204000	Active TSS	Fetal Stomach	stomach
15	chr6:76200200-76204000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:76200200-76204400	Active TSS	Right Ventricle	heart
17	chr6:76200400-76203800	Active TSS	Left Ventricle	heart
18	chr6:76200400-76203800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr6:76200400-76204600	Active TSS	Fetal Muscle Leg	muscle
20	chr6:76200600-76204000	Active TSS	Ovary	ovary
21	chr6:76200800-76204000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr6:76200800-76204200	Active TSS	Fetal Muscle Trunk	muscle
23	chr6:76201000-76203600	Active TSS	HSMMtube	muscle
24	chr6:76201000-76204000	ZNF genes & repeats	Fetal Brain Male	brain
25	chr6:76201400-76203400	ZNF genes & repeats	Fetal Heart	heart
26	chr6:76201400-76204000	Active TSS	Psoas Muscle	Psoas
27	chr6:76201600-76203200	Weak transcription	Fetal Kidney	kidney
28	chr6:76201600-76203800	Active TSS	Fetal Lung	lung
29	chr6:76201800-76203200	Weak transcription	Lung	lung
30	chr6:76202200-76203200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:76202200-76203800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:76202200-76203800	Flanking Active TSS	GM12878-XiMat	blood
33	chr6:76202400-76203800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
34	chr6:76202400-76204000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:76202600-76203000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:76202600-76203000	Enhancers	Brain Angular Gyrus	brain
37	chr6:76202600-76203000	Flanking Active TSS	NHLF	lung
38	chr6:76202600-76203600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr6:76202600-76203600	Active TSS	Placenta	Placenta
40	chr6:76202600-76203600	Active TSS	Pancreas	Pancrea
41	chr6:76202600-76203800	Active TSS	Brain Hippocampus Middle	brain
42	chr6:76202600-76203800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:76202600-76203800	Active TSS	Duodenum Mucosa	Duodenum
44	chr6:76202600-76204000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:76202600-76204000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr6:76202800-76203000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:76202800-76203200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:76202800-76203400	Active TSS	Brain Anterior Caudate	brain

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