Variant report

Variant	rs72727988
Chromosome Location	chr4:147179449-147179450
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	chr4:147152370..147155197-chr4:147179025..147181939,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72727994	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72727996	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72727998	0.89[AFR][1000 genomes];0.85[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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
2	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147165400-147181600	Weak transcription	Small Intestine	intestine
5	chr4:147166000-147181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:147166800-147181800	Weak transcription	Esophagus	oesophagus
8	chr4:147166800-147181800	Weak transcription	Gastric	stomach
9	chr4:147166800-147186400	Weak transcription	Spleen	Spleen
10	chr4:147166800-147187200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:147166800-147190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
13	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
14	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:147167400-147185800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:147167400-147209000	Weak transcription	Ovary	ovary
17	chr4:147167800-147188600	Weak transcription	Pancreas	Pancrea
18	chr4:147170000-147196400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:147172600-147184600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:147174400-147181600	Weak transcription	Placenta	Placenta
22	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:147174800-147180400	Weak transcription	Fetal Kidney	kidney
24	chr4:147174800-147180400	Weak transcription	HepG2	liver
25	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:147175000-147180400	Weak transcription	Fetal Intestine Large	intestine
28	chr4:147175000-147196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:147175600-147180000	Weak transcription	Fetal Thymus	thymus
31	chr4:147175600-147184200	Weak transcription	K562	blood
32	chr4:147175800-147206800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:147176600-147180200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:147176800-147180000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:147177000-147180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:147177200-147180400	Strong transcription	Liver	Liver
38	chr4:147177200-147184200	Strong transcription	Primary T cells from cord blood	blood
39	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:147177600-147179800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:147177600-147181400	Weak transcription	GM12878-XiMat	blood
42	chr4:147177600-147182600	Weak transcription	Fetal Heart	heart
43	chr4:147177600-147187400	Weak transcription	Fetal Brain Female	brain
44	chr4:147177800-147179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:147177800-147182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:147177800-147182200	Weak transcription	HUVEC	blood vessel
47	chr4:147177800-147183800	Weak transcription	HSMMtube	muscle
48	chr4:147177800-147188200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:147178000-147180200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr4:147178000-147181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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