Variant report

Variant	rs301091
Chromosome Location	chr4:53817010-53817011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53815516..53817587-chr4:53820370..53822894,2	K562	blood:
2	chr4:53814642..53817493-chr4:53817839..53820215,2	K562	blood:
3	chr4:53816087..53818184-chr4:53821394..53824021,2	K562	blood:
4	chr4:53816217..53819128-chr4:53819508..53821400,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASL11B-2	chr4:53815055-53817189	ENSG00000248115.1

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11133241	1.00[AMR][1000 genomes]
rs1351709	1.00[AMR][1000 genomes]
rs301094	1.00[AMR][1000 genomes]
rs301105	1.00[AMR][1000 genomes]
rs301107	1.00[AMR][1000 genomes]
rs301111	1.00[AMR][1000 genomes]
rs403547	1.00[AMR][1000 genomes]
rs4864708	1.00[AMR][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53734600-53822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
3	chr4:53799600-53820200	Weak transcription	Fetal Stomach	stomach
4	chr4:53800400-53823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:53801400-53819000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:53806200-53822400	Weak transcription	NHDF-Ad	bronchial
7	chr4:53806400-53818800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:53806400-53820200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:53806600-53820200	Weak transcription	Pancreas	Pancrea
10	chr4:53808600-53828000	Weak transcription	Right Atrium	heart
11	chr4:53808800-53836000	Weak transcription	Esophagus	oesophagus
12	chr4:53810000-53822400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:53812000-53818200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:53812000-53820400	Weak transcription	Fetal Lung	lung
15	chr4:53812400-53828000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:53812400-53831200	Weak transcription	Aorta	Aorta
17	chr4:53813000-53817200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:53813200-53827000	Weak transcription	Spleen	Spleen
19	chr4:53813400-53823200	Weak transcription	Psoas Muscle	Psoas
20	chr4:53813600-53819600	Weak transcription	Ovary	ovary
21	chr4:53813600-53822800	Weak transcription	NHLF	lung
22	chr4:53813600-53823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:53814200-53829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:53814400-53817200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:53815000-53818400	Weak transcription	Fetal Heart	heart
26	chr4:53815000-53819600	Weak transcription	Left Ventricle	heart
27	chr4:53815000-53820800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:53815200-53817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:53815600-53817200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:53815600-53817200	Enhancers	Placenta	Placenta
31	chr4:53815600-53818200	Strong transcription	Primary T cells from cord blood	blood
32	chr4:53815600-53829800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:53815800-53817200	Enhancers	HMEC	breast
34	chr4:53816000-53818200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:53816000-53822400	Weak transcription	HSMMtube	muscle
36	chr4:53816200-53820000	Weak transcription	Brain Germinal Matrix	brain
37	chr4:53816200-53834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:53816600-53817600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:53816600-53818000	Enhancers	HUVEC	blood vessel
40	chr4:53816800-53817600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:53816800-53818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:53816800-53820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:53816800-53822400	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:53816800-53822800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:53816800-53823200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:53817000-53817200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:53817000-53817600	Enhancers	NH-A	brain
48	chr4:53817000-53817800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:53817000-53818000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:53817000-53823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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