Variant report

Variant	rs383721
Chromosome Location	chr14:69178795-69178796
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69163475..69166376-chr14:69176885..69179695,2	K562	blood:
2	chr14:69177394..69179391-chr14:69252798..69254946,2	K562	blood:
3	chr14:69177670..69179717-chr14:69259867..69262497,2	K562	blood:
4	chr14:69171674..69175443-chr14:69177716..69181490,3	K562	blood:
5	chr14:69175919..69179452-chr14:69252048..69254432,3	MCF-7	breast:
6	chr14:69125055..69127745-chr14:69178305..69180249,2	MCF-7	breast:
7	chr14:69177353..69180926-chr14:69182112..69186555,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1034485	0.94[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11158760	0.94[CEU][hapmap]
rs168964	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs168965	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs194773	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs194776	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs194781	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs194782	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs381336	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs387618	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs404539	0.83[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs405329	0.94[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs407929	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs408608	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs409633	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs412016	0.94[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs440489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs444883	0.94[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69171800-69179800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:69173400-69179800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:69173600-69178800	Weak transcription	Fetal Lung	lung
4	chr14:69173600-69179800	Weak transcription	Right Atrium	heart
5	chr14:69173600-69194200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:69173600-69196400	Weak transcription	Right Ventricle	heart
7	chr14:69173800-69179000	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:69173800-69180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:69173800-69180600	Weak transcription	NHEK	skin
10	chr14:69173800-69184200	Weak transcription	Ovary	ovary
11	chr14:69174000-69181600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:69174000-69181800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:69175000-69181600	Weak transcription	Adipose Nuclei	Adipose
14	chr14:69176000-69180800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:69176600-69189400	Weak transcription	Pancreas	Pancrea
16	chr14:69177200-69178800	Enhancers	Esophagus	oesophagus
17	chr14:69177200-69181000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr14:69177400-69181200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:69177400-69184200	Enhancers	Placenta	Placenta
20	chr14:69177600-69179200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:69177600-69179600	Enhancers	HepG2	liver
22	chr14:69177600-69180000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:69177600-69180200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:69177600-69180800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:69177800-69178800	Enhancers	Fetal Muscle Leg	muscle
26	chr14:69177800-69179200	Enhancers	Liver	Liver
27	chr14:69177800-69179200	Enhancers	Stomach Mucosa	stomach
28	chr14:69177800-69180800	Enhancers	Primary T cells from cord blood	blood
29	chr14:69177800-69180800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr14:69177800-69184000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:69178000-69180000	Enhancers	Fetal Thymus	thymus
32	chr14:69178000-69180200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:69178000-69180400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:69178000-69180600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr14:69178000-69181000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:69178000-69182000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr14:69178200-69178800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:69178200-69180800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr14:69178200-69180800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr14:69178400-69179200	Enhancers	Fetal Intestine Large	intestine
41	chr14:69178400-69179800	Weak transcription	Left Ventricle	heart
42	chr14:69178400-69181000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:69178600-69178800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr14:69178600-69178800	Enhancers	Fetal Muscle Trunk	muscle
45	chr14:69178600-69178800	Enhancers	Gastric	stomach
46	chr14:69178600-69179000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:69178600-69179200	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:69178600-69179200	Enhancers	Fetal Intestine Small	intestine
49	chr14:69178600-69179400	Weak transcription	Spleen	Spleen
50	chr14:69178600-69179800	Weak transcription	Lung	lung

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