Variant report

Variant	rs4895638
Chromosome Location	chr6:144642841-144642842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144605020..144608498-chr6:144642073..144644713,3	MCF-7	breast:
2	chr6:144642782..144645607-chr6:144652878..144655229,2	MCF-7	breast:
3	chr6:144641867..144643569-chr6:144651499..144653037,2	MCF-7	breast:
4	chr6:144635200..144637936-chr6:144642153..144644921,2	MCF-7	breast:
5	chr6:144641871..144646816-chr6:144650336..144652619,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225311	Chromatin interaction
ENSG00000152818	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2502634	0.94[ASN][1000 genomes]
rs2502640	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2982239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144616400-144648000	Weak transcription	NHEK	skin
2	chr6:144624400-144648000	Weak transcription	HMEC	breast
3	chr6:144627600-144643400	Weak transcription	NH-A	brain
4	chr6:144627600-144645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:144630200-144648400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:144630600-144648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:144634800-144645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:144635000-144651000	Weak transcription	Small Intestine	intestine
9	chr6:144635600-144643000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:144635600-144650800	Weak transcription	Aorta	Aorta
11	chr6:144636000-144656200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:144636600-144648000	Weak transcription	Brain Anterior Caudate	brain
13	chr6:144636600-144654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:144636800-144650800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:144636800-144654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:144636800-144656400	Weak transcription	Brain Substantia Nigra	brain
17	chr6:144637000-144643000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:144637000-144647600	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:144637000-144651800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:144637200-144647800	Weak transcription	Left Ventricle	heart
21	chr6:144637200-144647800	Weak transcription	Right Atrium	heart
22	chr6:144637200-144648000	Weak transcription	Psoas Muscle	Psoas
23	chr6:144637400-144643200	Weak transcription	Gastric	stomach
24	chr6:144637400-144645600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:144637400-144647800	Weak transcription	Fetal Stomach	stomach
26	chr6:144637400-144648400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:144637600-144643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:144637600-144644800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:144637600-144647800	Weak transcription	Right Ventricle	heart
30	chr6:144638000-144643400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:144638400-144643000	Weak transcription	Stomach Mucosa	stomach
32	chr6:144639000-144643200	Genic enhancers	HepG2	liver
33	chr6:144639400-144643000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:144639400-144643400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:144639600-144660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:144640800-144643200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:144641000-144644400	Enhancers	Liver	Liver
38	chr6:144641000-144645600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:144641200-144643000	Weak transcription	Pancreas	Pancrea
40	chr6:144641200-144644400	Enhancers	NHDF-Ad	bronchial
41	chr6:144641200-144645600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr6:144641200-144648000	Weak transcription	Lung	lung
43	chr6:144641400-144643800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:144641800-144643400	Enhancers	A549	lung
45	chr6:144641800-144643600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:144642000-144645000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:144642200-144643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:144642200-144643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:144642200-144643000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:144642200-144643200	Weak transcription	NHLF	lung

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