Variant report

Variant	rs58975535
Chromosome Location	chr4:144393838-144393839
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	chr4:144392912..144395406-chr4:144410816..144414456,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11939029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17017785	1.00[AMR][1000 genomes]
rs17017788	1.00[AMR][1000 genomes]
rs28924083	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28925919	1.00[AMR][1000 genomes]
rs28925937	1.00[AMR][1000 genomes]
rs7699723	1.00[AMR][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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830103	chr4:144393398-144553045	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
2	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:144360200-144399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:144363200-144395400	Weak transcription	Spleen	Spleen
6	chr4:144363200-144398600	Weak transcription	Lung	lung
7	chr4:144365600-144398400	Weak transcription	NHLF	lung
8	chr4:144366200-144394400	Weak transcription	Psoas Muscle	Psoas
9	chr4:144373200-144399000	Weak transcription	Fetal Brain Male	brain
10	chr4:144376000-144398400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:144376800-144410000	Weak transcription	Pancreas	Pancrea
12	chr4:144377200-144397400	Weak transcription	NHDF-Ad	bronchial
13	chr4:144379400-144399000	Weak transcription	HSMMtube	muscle
14	chr4:144382800-144396200	Weak transcription	Small Intestine	intestine
15	chr4:144382800-144400600	Weak transcription	Esophagus	oesophagus
16	chr4:144382800-144410200	Weak transcription	Gastric	stomach
17	chr4:144383000-144405800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:144384200-144400600	Weak transcription	Right Ventricle	heart
19	chr4:144384200-144409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:144384400-144400200	Weak transcription	Ovary	ovary
21	chr4:144384800-144397200	Weak transcription	Left Ventricle	heart
22	chr4:144388600-144397400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:144389000-144394600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:144389000-144397400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:144389000-144399200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:144390000-144394000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:144390400-144397000	Weak transcription	Fetal Stomach	stomach
28	chr4:144390400-144399200	Weak transcription	Fetal Intestine Small	intestine
29	chr4:144390400-144400200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:144390400-144401000	Weak transcription	Aorta	Aorta
31	chr4:144390800-144399600	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:144391000-144394800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:144391000-144400000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:144391000-144400000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:144391000-144401800	Weak transcription	Brain Anterior Caudate	brain
36	chr4:144391200-144394400	Weak transcription	Liver	Liver
37	chr4:144391200-144394400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:144391200-144394600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:144391200-144395600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:144391200-144395800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:144391400-144394400	Weak transcription	Brain Angular Gyrus	brain
42	chr4:144391400-144395400	Weak transcription	Fetal Kidney	kidney
43	chr4:144391400-144395800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:144391400-144395800	Weak transcription	Fetal Lung	lung
45	chr4:144391400-144399800	Weak transcription	Fetal Heart	heart
46	chr4:144391800-144394400	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:144391800-144394800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:144391800-144396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:144391800-144397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:144391800-144399200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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