Variant report

Variant	rs6842612
Chromosome Location	chr4:95446590-95446591
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1493113	1.00[EUR][1000 genomes]
rs2452587	1.00[EUR][1000 genomes]
rs2452588	1.00[EUR][1000 genomes]
rs2555207	1.00[EUR][1000 genomes]
rs72876268	0.97[AFR][1000 genomes]
rs72876275	0.91[AFR][1000 genomes]
rs7679187	0.91[AFR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
3	chr4:95436400-95447200	Enhancers	Colon Smooth Muscle	Colon
4	chr4:95436800-95447800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:95437200-95448400	Weak transcription	HSMM	muscle
6	chr4:95437600-95456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:95437800-95448600	Weak transcription	NHEK	skin
8	chr4:95438000-95448400	Weak transcription	Fetal Intestine Large	intestine
9	chr4:95438200-95448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:95438200-95454600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:95438400-95454800	Weak transcription	Hela-S3	cervix
12	chr4:95438800-95446800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:95438800-95448600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:95439000-95447000	Weak transcription	HepG2	liver
15	chr4:95439400-95448800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:95440400-95447000	Weak transcription	Fetal Lung	lung
17	chr4:95440400-95448400	Weak transcription	Brain Substantia Nigra	brain
18	chr4:95440400-95455000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:95440600-95447200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:95440600-95448400	Weak transcription	Aorta	Aorta
21	chr4:95440600-95448800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:95440600-95449000	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:95440600-95449000	Weak transcription	Pancreas	Pancrea
24	chr4:95440600-95454200	Weak transcription	Fetal Stomach	stomach
25	chr4:95440600-95454600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:95440600-95454800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:95440600-95456200	Weak transcription	Spleen	Spleen
28	chr4:95440600-95456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:95440600-95456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:95440800-95446800	Weak transcription	Stomach Mucosa	stomach
31	chr4:95440800-95454200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:95441000-95451800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:95441400-95455000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:95441600-95447800	Weak transcription	Placenta	Placenta
35	chr4:95441600-95451400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:95441600-95454600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:95442000-95469600	Weak transcription	Primary T cells from cord blood	blood
38	chr4:95442200-95447400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:95442600-95447400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:95442600-95448600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:95442600-95455200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:95443400-95448400	Enhancers	Osteobl	bone
43	chr4:95443600-95446800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:95444200-95447000	Enhancers	NHDF-Ad	bronchial
45	chr4:95444400-95446600	Weak transcription	GM12878-XiMat	blood
46	chr4:95444400-95446600	Weak transcription	NHLF	lung
47	chr4:95444400-95447200	Weak transcription	Adipose Nuclei	Adipose
48	chr4:95444400-95448600	Weak transcription	HSMMtube	muscle
49	chr4:95444400-95448800	Weak transcription	Right Ventricle	heart
50	chr4:95444400-95453400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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