Variant report

Variant	rs3757953
Chromosome Location	chr8:54704289-54704290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54702587..54705497-chr8:54714078..54716603,2	K562	blood:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10958392	0.96[AFR][1000 genomes];0.87[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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
2	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
3	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:54681000-54707400	Weak transcription	NHLF	lung
5	chr8:54681000-54726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:54681200-54707400	Weak transcription	Hela-S3	cervix
7	chr8:54681400-54707600	Weak transcription	NH-A	brain
8	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
9	chr8:54687600-54711400	Weak transcription	NHDF-Ad	bronchial
10	chr8:54687600-54753600	Weak transcription	A549	lung
11	chr8:54687800-54712400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:54688000-54707400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:54688000-54712000	Weak transcription	Spleen	Spleen
14	chr8:54688000-54712200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:54691800-54726400	Weak transcription	Stomach Mucosa	stomach
16	chr8:54695400-54708000	Weak transcription	HSMMtube	muscle
17	chr8:54697600-54707800	Weak transcription	Osteobl	bone
18	chr8:54698000-54710200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:54698200-54710400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr8:54698400-54706000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:54698600-54712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:54698600-54716000	Weak transcription	Fetal Heart	heart
23	chr8:54698800-54710000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:54699000-54707600	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:54699200-54709400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:54699200-54709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:54699200-54712000	Weak transcription	Pancreas	Pancrea
28	chr8:54699200-54720000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:54699400-54706400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:54699400-54707800	Weak transcription	Fetal Brain Male	brain
31	chr8:54699600-54706400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:54699800-54707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:54700000-54707200	Weak transcription	K562	blood
34	chr8:54700000-54707400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:54700000-54707400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:54700000-54707400	Weak transcription	Fetal Brain Female	brain
37	chr8:54700000-54708200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:54700000-54708200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:54700200-54709600	Weak transcription	HSMM	muscle
41	chr8:54700200-54709800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:54700200-54731600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:54700400-54708000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:54700400-54708200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:54700400-54714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:54700600-54708400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:54700800-54715200	Strong transcription	Dnd41	blood
48	chr8:54701000-54712600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:54701200-54706000	Strong transcription	Fetal Intestine Large	intestine
50	chr8:54701200-54706200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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