Variant report

Variant	rs13116594
Chromosome Location	chr4:144300518-144300519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144254627..144258395-chr4:144297952..144301828,4	K562	blood:
2	chr4:144292852..144297100-chr4:144298409..144302941,5	K562	blood:
3	chr4:144299400..144301389-chr4:144302183..144304339,2	K562	blood:

Variant related genes	Relation type
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10017771	0.85[AFR][1000 genomes]
rs10023724	1.00[ASN][1000 genomes]
rs13104755	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13107986	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13118809	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13127055	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17739332	1.00[ASN][1000 genomes]
rs28410377	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478042	0.85[AFR][1000 genomes]
rs28743166	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28925878	1.00[ASN][1000 genomes]
rs34192902	0.82[AMR][1000 genomes]
rs34234071	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34583666	0.81[EUR][1000 genomes]
rs71610438	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610439	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610440	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610442	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991495	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:144291800-144302200	Weak transcription	Esophagus	oesophagus
3	chr4:144293200-144302400	Enhancers	Brain Substantia Nigra	brain
4	chr4:144293600-144302000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:144294000-144302200	Weak transcription	Spleen	Spleen
6	chr4:144294000-144302400	Weak transcription	Gastric	stomach
7	chr4:144295000-144302800	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:144295200-144301000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:144295200-144302400	Enhancers	Brain Anterior Caudate	brain
10	chr4:144295400-144301000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr4:144295400-144302000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:144295600-144300800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:144295600-144302400	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:144295600-144303000	Enhancers	Brain Angular Gyrus	brain
15	chr4:144296000-144302200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:144296200-144302400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:144296600-144300600	Enhancers	Fetal Lung	lung
18	chr4:144296600-144301200	Enhancers	Primary B cells from peripheral blood	blood
19	chr4:144296800-144304600	Enhancers	Liver	Liver
20	chr4:144297000-144301600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:144297000-144302200	Weak transcription	Stomach Mucosa	stomach
22	chr4:144297000-144302600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:144297200-144302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:144297200-144302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:144297200-144302200	Weak transcription	HMEC	breast
26	chr4:144297200-144302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:144297200-144302400	Enhancers	Brain Hippocampus Middle	brain
28	chr4:144297200-144302400	Weak transcription	Fetal Thymus	thymus
29	chr4:144297200-144305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:144297400-144301800	Weak transcription	Aorta	Aorta
31	chr4:144297400-144301800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:144297400-144302200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:144297400-144302400	Weak transcription	Brain Germinal Matrix	brain
34	chr4:144297800-144300800	Enhancers	K562	blood
35	chr4:144298000-144303600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:144298000-144305800	Enhancers	Fetal Stomach	stomach
37	chr4:144298200-144302000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:144298600-144303200	Enhancers	Fetal Muscle Leg	muscle
39	chr4:144298800-144301400	Enhancers	Ovary	ovary
40	chr4:144299000-144301400	Enhancers	Right Ventricle	heart
41	chr4:144299000-144303400	Enhancers	HepG2	liver
42	chr4:144299000-144304600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:144299200-144301000	Enhancers	Psoas Muscle	Psoas
44	chr4:144299400-144300600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:144299400-144300800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:144299400-144300800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:144299400-144301000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr4:144299400-144302200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:144299400-144303000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:144299400-144303400	Enhancers	H1 Cell Line	embryonic stem cell

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