Variant report

Variant	rs72955600
Chromosome Location	chr4:148772865-148772866
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	chr4:148766756..148768552-chr4:148771059..148773482,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17023831	1.00[AMR][1000 genomes]
rs17023955	0.91[AFR][1000 genomes]
rs17023988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955575	0.91[AFR][1000 genomes]
rs72955587	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957736	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
2	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:148751400-148776000	Weak transcription	Fetal Stomach	stomach
4	chr4:148753400-148782000	Weak transcription	Gastric	stomach
5	chr4:148755600-148773200	Weak transcription	Esophagus	oesophagus
6	chr4:148756800-148777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:148762800-148775400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:148763800-148776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:148764400-148786000	Weak transcription	NH-A	brain
11	chr4:148764400-148787000	Weak transcription	NHEK	skin
12	chr4:148764600-148775800	Weak transcription	HSMMtube	muscle
13	chr4:148764600-148776200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:148764600-148787800	Weak transcription	HMEC	breast
15	chr4:148766200-148782000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:148767200-148773200	Strong transcription	HSMM	muscle
19	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:148767800-148774400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:148768200-148782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:148768400-148781000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
24	chr4:148768600-148775400	Weak transcription	HUVEC	blood vessel
25	chr4:148769000-148774200	Weak transcription	NHDF-Ad	bronchial
26	chr4:148769000-148782200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:148769600-148773200	Weak transcription	Right Atrium	heart
28	chr4:148769600-148775400	Weak transcription	Psoas Muscle	Psoas
29	chr4:148769600-148776000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:148769600-148776200	Weak transcription	Small Intestine	intestine
31	chr4:148769600-148782000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:148769600-148782200	Weak transcription	Pancreas	Pancrea
33	chr4:148769600-148782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:148770000-148782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:148770200-148775600	Weak transcription	Fetal Heart	heart
36	chr4:148770200-148779000	Weak transcription	Fetal Lung	lung
37	chr4:148770200-148779000	Weak transcription	Osteobl	bone
38	chr4:148770200-148781600	Weak transcription	Adipose Nuclei	Adipose
39	chr4:148770200-148781800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:148770400-148773600	Weak transcription	Right Ventricle	heart
41	chr4:148770400-148774200	Weak transcription	NHLF	lung
42	chr4:148770400-148776000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
44	chr4:148770600-148773200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:148770600-148775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:148770600-148775800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:148770800-148776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:148771000-148775400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:148771400-148773600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:148771600-148773200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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