Variant report

Variant	rs4653671
Chromosome Location	chr1:225959328-225959329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225662383..225663164-chr1:225958651..225959497,2	MCF-7	breast:
2	chr1:225958118..225962710-chr1:225963667..225967066,7	K562	blood:
3	chr1:225834091..225845547-chr1:225952149..225961130,23	MCF-7	breast:
4	chr1:225840819..225841545-chr1:225959164..225959938,2	MCF-7	breast:
5	chr1:225956937..225960087-chr1:225960479..225963654,4	K562	blood:
6	chr1:225952293..225956105-chr1:225956557..225960824,5	MCF-7	breast:
7	chr1:225952636..225956677-chr1:225957308..225960710,4	K562	blood:
8	chr1:225838129..225843793-chr1:225950745..225961465,25	MCF-7	breast:
9	chr1:225959006..225964473-chr1:225964619..225968366,9	MCF-7	breast:
10	chr1:225954921..225956765-chr1:225958660..225961642,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11583244	0.83[EUR][1000 genomes]
rs12403575	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653431	0.81[EUR][1000 genomes]
rs6670903	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6696074	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225946200-225959800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:225949600-225960400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:225952200-225960200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:225952200-225964400	Weak transcription	Fetal Brain Female	brain
5	chr1:225952200-225965600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:225953600-225960000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:225953600-225960200	Enhancers	Spleen	Spleen
8	chr1:225953800-225960200	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:225954000-225960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:225954200-225961000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:225954400-225960800	Enhancers	Fetal Stomach	stomach
12	chr1:225954400-225960800	Enhancers	Ovary	ovary
13	chr1:225954800-225964400	Weak transcription	Small Intestine	intestine
14	chr1:225955200-225960400	Enhancers	NHDF-Ad	bronchial
15	chr1:225955400-225960800	Enhancers	NHLF	lung
16	chr1:225955800-225959800	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:225955800-225960000	Enhancers	Fetal Lung	lung
18	chr1:225956000-225959600	Weak transcription	Fetal Intestine Small	intestine
19	chr1:225956000-225959600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:225956000-225959600	Weak transcription	Stomach Mucosa	stomach
21	chr1:225956000-225960200	Weak transcription	Aorta	Aorta
22	chr1:225956200-225959600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:225956200-225959600	Weak transcription	Hela-S3	cervix
24	chr1:225956200-225959600	Weak transcription	HUVEC	blood vessel
25	chr1:225956200-225959800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:225956200-225960600	Weak transcription	HSMMtube	muscle
27	chr1:225956400-225959600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:225956400-225959600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:225956400-225960200	Weak transcription	Colonic Mucosa	Colon
30	chr1:225956400-225960200	Weak transcription	Right Atrium	heart
31	chr1:225956600-225959600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:225956600-225959800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:225956600-225959800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:225956800-225959600	Weak transcription	Brain Germinal Matrix	brain
35	chr1:225956800-225959600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:225956800-225964600	Weak transcription	Right Ventricle	heart
37	chr1:225957000-225959600	Weak transcription	Osteobl	bone
38	chr1:225957000-225959800	Weak transcription	NH-A	brain
39	chr1:225957000-225959800	Weak transcription	NHEK	skin
40	chr1:225957000-225960800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:225957000-225965000	Weak transcription	Gastric	stomach
42	chr1:225957400-225959600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:225957400-225959800	Weak transcription	Fetal Heart	heart
44	chr1:225957400-225959800	Weak transcription	HMEC	breast
45	chr1:225957400-225961000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:225957400-225962200	Enhancers	HepG2	liver
47	chr1:225957600-225959600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:225957600-225959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:225957600-225959800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:225957600-225959800	Weak transcription	K562	blood

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