Variant report

Variant	rs41535748
Chromosome Location	chr4:119863576-119863577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119861194..119864004-chr4:119866188..119868711,2	K562	blood:
2	chr4:119862486..119864004-chr4:119865931..119867688,2	K562	blood:

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

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

rs_ID	r²[population]
rs17258106	1.00[ASW][hapmap]
rs17323877	1.00[ASW][hapmap]
rs17324884	1.00[ASW][hapmap]
rs17324968	1.00[ASW][hapmap]
rs41455648	1.00[ASW][hapmap]
rs58527730	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60938668	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119858800-119871600	Weak transcription	Psoas Muscle	Psoas
2	chr4:119860200-119864000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr4:119860800-119863600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr4:119860800-119864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:119860800-119868200	Weak transcription	Fetal Heart	heart
6	chr4:119861400-119863600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr4:119861600-119865200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:119861800-119863600	Enhancers	Right Ventricle	heart
9	chr4:119861800-119864000	Enhancers	Left Ventricle	heart
10	chr4:119861800-119864000	Enhancers	Ovary	ovary
11	chr4:119861800-119864000	Enhancers	Right Atrium	heart
12	chr4:119862200-119863600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:119862200-119863800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:119862200-119864000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:119862200-119864000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:119862200-119864000	Enhancers	NHDF-Ad	bronchial
17	chr4:119862400-119863600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:119862400-119863600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:119862400-119864000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:119862600-119864000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr4:119862800-119863600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:119862800-119863600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:119862800-119863600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:119862800-119863600	Enhancers	NHLF	lung
25	chr4:119862800-119864600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:119863000-119863600	Enhancers	HSMM	muscle
27	chr4:119863000-119864000	Enhancers	HMEC	breast
28	chr4:119863000-119867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:119863200-119863600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:119863200-119863800	Weak transcription	Aorta	Aorta
31	chr4:119863200-119863800	Enhancers	Osteobl	bone
32	chr4:119863200-119865200	Enhancers	Rectal Smooth Muscle	rectum
33	chr4:119863200-119867400	Weak transcription	Fetal Stomach	stomach
34	chr4:119863400-119863600	Enhancers	NHEK	skin
35	chr4:119863400-119868200	Enhancers	Colon Smooth Muscle	Colon
36	chr4:119863400-119868400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:119863400-119869400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:119863400-119870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:119863400-119871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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