Variant report

Variant	rs7508523
Chromosome Location	chr19:44721405-44721406
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	chr19:44716236..44718543-chr19:44718913..44722241,5	K562	blood:
2	chr19:44716732..44718428-chr19:44721067..44723325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131115	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10409155	0.81[ASN][1000 genomes]
rs10775542	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11666199	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11667521	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11670157	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11671074	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12459795	0.92[ASN][1000 genomes]
rs12460431	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12461251	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12462557	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12462723	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12609635	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12972550	0.83[AMR][1000 genomes]
rs12972784	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12975315	0.83[AMR][1000 genomes]
rs12975546	0.88[AMR][1000 genomes]
rs12980565	0.88[AMR][1000 genomes]
rs12981298	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2051058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2051059	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2125578	0.88[AMR][1000 genomes]
rs2125579	0.83[AMR][1000 genomes]
rs2279073	0.84[AMR][1000 genomes]
rs2356727	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356752	0.85[ASN][1000 genomes]
rs4592768	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4802210	0.81[ASN][1000 genomes]
rs4802217	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4802218	0.83[AMR][1000 genomes]
rs4803694	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62117771	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6509145	0.81[ASN][1000 genomes]
rs6509150	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs67711424	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7248054	0.89[ASN][1000 genomes]
rs7253196	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7256402	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs733265	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8101032	0.88[AMR][1000 genomes]
rs8103838	0.84[ASN][1000 genomes]
rs8105073	0.80[AMR][1000 genomes]
rs8105479	0.90[ASN][1000 genomes]
rs8106766	0.85[AMR][1000 genomes]
rs8108934	0.90[ASN][1000 genomes]
rs8109462	0.86[AMR][1000 genomes]
rs8109706	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9646642	0.88[AMR][1000 genomes]
rs9646643	0.88[AMR][1000 genomes]
rs9676368	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs984117	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44717400-44739000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44717600-44721600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44717600-44725000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:44717600-44725200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:44717600-44730200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:44717600-44739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44717800-44721600	Weak transcription	Brain Substantia Nigra	brain
8	chr19:44717800-44722000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:44717800-44731600	Weak transcription	HSMMtube	muscle
10	chr19:44717800-44732200	Weak transcription	Stomach Mucosa	stomach
11	chr19:44718000-44721600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:44718000-44721600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:44718000-44721600	Weak transcription	NHLF	lung
14	chr19:44718000-44723600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:44718000-44725000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:44718200-44721600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:44718200-44721600	Weak transcription	Fetal Heart	heart
18	chr19:44718200-44721600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:44718200-44723000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:44718200-44723800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:44718200-44732400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:44718200-44732400	Weak transcription	K562	blood
23	chr19:44718200-44732600	Weak transcription	HepG2	liver
24	chr19:44718200-44732800	Weak transcription	HMEC	breast
25	chr19:44718200-44738800	Weak transcription	Hela-S3	cervix
26	chr19:44718400-44732400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:44718400-44736400	Weak transcription	HUVEC	blood vessel
28	chr19:44718600-44724800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:44718800-44721600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:44718800-44721600	Strong transcription	Fetal Lung	lung
31	chr19:44718800-44723200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:44718800-44723400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:44718800-44723400	Strong transcription	Fetal Muscle Leg	muscle
34	chr19:44718800-44723600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:44718800-44723600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr19:44718800-44723600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr19:44718800-44723800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr19:44718800-44724000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:44718800-44724000	ZNF genes & repeats	Liver	Liver
40	chr19:44718800-44724000	Strong transcription	Fetal Intestine Large	intestine
41	chr19:44718800-44725000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:44718800-44725000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:44718800-44725600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:44719000-44721600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:44719000-44723600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr19:44719000-44723800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr19:44719000-44725000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:44719200-44721600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:44719200-44723600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:44719200-44723800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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