Variant report

Variant	rs73419823
Chromosome Location	chr6:37227236-37227237
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:37226773-37227450	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr6:37226933-37227360	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr6:37227224-37227241	HepG2	liver:	n/a	n/a
4	ATF2	chr6:37226923-37228295	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:37224713-37227590	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:37226962-37227366	GM12891	blood:	n/a	n/a
7	POLR2A	chr6:37227033-37227265	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr6:37225183-37227490	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:37226883-37227349	GM12891	blood:	n/a	n/a
10	CUX1	chr6:37227013-37227413	K562	blood:	n/a	chr6:37227230-37227244
11	NFIC	chr6:37226935-37228734	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:37225292-37227558	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr6:37226967-37227395	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:37224784-37227469	IMR90	lung:	n/a	n/a
15	POLR2A	chr6:37226962-37227239	GM12891	blood:	n/a	n/a
16	POLR2A	chr6:37226869-37227319	GM12892	blood:	n/a	n/a
17	POLR2A	chr6:37226812-37227487	GM12892	blood:	n/a	n/a
18	RELA	chr6:37226940-37227434	GM19099	blood:	n/a	chr6:37227184-37227193 chr6:37227184-37227193
19	GATA2	chr6:37227041-37227385	HUVEC	blood vessel:	n/a	n/a
20	FOS	chr6:37227028-37227307	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37138226..37140193-chr6:37227015..37228524,2	K562	blood:
2	chr6:37040055..37042190-chr6:37226411..37229127,2	K562	blood:

Variant related genes	Relation type
TMEM217	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs11548070	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11961544	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11961609	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11961942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11963012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11964774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11965707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11966215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11966913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11970265	1.00[EUR][1000 genomes]
rs11970519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1391346	1.00[AMR][1000 genomes]
rs55774623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55901294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56008535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56201211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56331451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56402325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56992129	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56995621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57091508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57137816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57167818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57194078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57300303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57379477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57620048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57879855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57904157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58277176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58315142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58819653	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58931517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58943251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59078138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59230765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59413560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59584013	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59827015	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59910191	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60081780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60135241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60144484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60153228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60460682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60567861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61035057	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61175584	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61271443	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61431090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61435770	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6903801	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6905400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6907008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6908216	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6909751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6911541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6911592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6916893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6919142	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6919900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6920007	1.00[EUR][1000 genomes]
rs6926325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6926402	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6932222	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6933701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6934560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6940193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417899	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73419818	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419828	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419858	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419870	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419874	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419889	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419894	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419895	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419902	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421904	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421905	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421909	0.81[AFR][1000 genomes]
rs73421911	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421916	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421994	1.00[AMR][1000 genomes]
rs73423614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73423615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73423617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73732936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73732941	1.00[AMR][1000 genomes]
rs7740399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7748450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7748706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7750754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7759469	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7764918	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7766759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768639	1.00[AMR][1000 genomes]
rs7773185	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7773273	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37224800-37227400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:37224800-37227600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:37225000-37227400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:37225000-37227600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:37225200-37227400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:37225200-37227400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:37225800-37227400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:37226000-37227400	Flanking Active TSS	Fetal Thymus	thymus
9	chr6:37226000-37227800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr6:37226000-37228000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr6:37226000-37228200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:37226200-37227400	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr6:37226200-37227400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:37226200-37227400	Enhancers	Spleen	Spleen
15	chr6:37226200-37227400	Flanking Active TSS	NHEK	skin
16	chr6:37226200-37227600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:37226200-37227800	Flanking Active TSS	HUVEC	blood vessel
18	chr6:37226200-37228600	Flanking Active TSS	Dnd41	blood
19	chr6:37226400-37227400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:37226400-37227400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:37226400-37227600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:37226400-37227600	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:37226400-37227600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:37226400-37227800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:37226400-37227800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:37226400-37228000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:37226400-37228000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:37226400-37229400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:37226400-37230200	Weak transcription	Left Ventricle	heart
30	chr6:37226400-37231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:37226400-37244000	Weak transcription	Gastric	stomach
32	chr6:37226400-37247200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:37226400-37250400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:37226600-37227400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:37226600-37227400	Enhancers	Brain Anterior Caudate	brain
36	chr6:37226600-37227400	Enhancers	Brain Cingulate Gyrus	brain
37	chr6:37226600-37227400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:37226600-37227400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:37226600-37227400	Enhancers	Fetal Heart	heart
40	chr6:37226600-37227400	Enhancers	Fetal Muscle Leg	muscle
41	chr6:37226600-37227400	Enhancers	Fetal Stomach	stomach
42	chr6:37226600-37227400	Enhancers	Psoas Muscle	Psoas
43	chr6:37226600-37227400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:37226600-37227400	Enhancers	A549	lung
45	chr6:37226600-37227600	Enhancers	Liver	Liver
46	chr6:37226600-37227600	Enhancers	Fetal Kidney	kidney
47	chr6:37226600-37227800	Enhancers	Fetal Lung	lung
48	chr6:37226600-37228000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:37226600-37228000	Enhancers	Adipose Nuclei	Adipose
50	chr6:37226600-37228000	Enhancers	Skeletal Muscle Male	skeletal muscle

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