Variant report

Variant	rs73419821
Chromosome Location	chr6:37226064-37226065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:282)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:37225295-37226193	GM12878	blood:	n/a	n/a
2	BHLHE40	chr6:37224875-37226169	K562	blood:	n/a	n/a
3	HEY1	chr6:37225392-37226194	HepG2	liver:	n/a	n/a
4	TBP	chr6:37225223-37226152	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:37225259-37226425	K562	blood:	n/a	n/a
6	POLR2A	chr6:37225254-37226250	ECC-1	luminal epithelium:	n/a	n/a
7	CCNT2	chr6:37225318-37226185	K562	blood:	n/a	n/a
8	TBP	chr6:37225273-37226157	HepG2	liver:	n/a	n/a
9	MAX	chr6:37225244-37226372	K562	blood:	n/a	n/a
10	POLR2A	chr6:37225316-37226134	Gliobla	brain:	n/a	n/a
11	POLR2A	chr6:37225327-37226476	GM12878	blood:	n/a	n/a
12	PML	chr6:37225162-37226441	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:37225319-37226094	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr6:37225422-37226158	GM12878	blood:	n/a	n/a
15	RUNX3	chr6:37225253-37226376	GM12878	blood:	n/a	n/a
16	CTCF	chr6:37225920-37226070	HPAF	blood vessel:	n/a	n/a
17	POLR2A	chr6:37225157-37226287	HepG2	liver:	n/a	n/a
18	MYC	chr6:37224955-37226440	K562	blood:	n/a	chr6:37225049-37225056 chr6:37225046-37225057
19	RCOR1	chr6:37225281-37226311	K562	blood:	n/a	n/a
20	POLR2A	chr6:37225262-37226243	MCF-7	breast:	n/a	n/a
21	POLR2A	chr6:37225205-37226393	K562	blood:	n/a	n/a
22	THAP1	chr6:37225304-37226127	K562	blood:	n/a	n/a
23	MTA3	chr6:37225261-37226763	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:37225168-37226269	PFSK-1	brain:	n/a	n/a
25	MAZ	chr6:37225274-37226212	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:37225276-37226261	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:37225368-37226319	GM12892	blood:	n/a	n/a
28	TAF1	chr6:37225323-37226117	GM12878	blood:	n/a	n/a
29	PAX5	chr6:37225755-37226104	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:37225354-37226520	GM15510	blood:	n/a	n/a
31	CTCF	chr6:37225960-37226110	GM06990	blood:	n/a	n/a
32	HEY1	chr6:37225146-37226438	K562	blood:	n/a	n/a
33	TBP	chr6:37225293-37226391	K562	blood:	n/a	n/a
34	MEF2A	chr6:37225723-37226253	GM12878	blood:	n/a	n/a
35	HDAC2	chr6:37225791-37226347	K562	blood:	n/a	n/a
36	TBL1XR1	chr6:37225508-37226235	K562	blood:	n/a	n/a
37	YY1	chr6:37225220-37226209	ECC-1	luminal epithelium:	n/a	n/a
38	IKZF1	chr6:37225898-37226698	GM12878	blood:	n/a	n/a
39	NR2F2	chr6:37224840-37226930	K562	blood:	n/a	n/a
40	CREB1	chr6:37225254-37226100	H1-hESC	embryonic stem cell:	n/a	n/a
41	NFYB	chr6:37224990-37226371	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr6:37226040-37226190	HUVEC	blood vessel:	n/a	n/a
43	ZBTB7A	chr6:37225380-37226592	K562	blood:	n/a	chr6:37226312-37226323
44	CTCF	chr6:37225907-37226508	K562	blood:	n/a	n/a
45	CTCF	chr6:37225940-37226090	RPTEC	kidney:	n/a	n/a
46	TBL1XR1	chr6:37225435-37226159	GM12878	blood:	n/a	n/a
47	YY1	chr6:37225192-37226071	HepG2	liver:	n/a	n/a
48	ZBTB7A	chr6:37225518-37226521	ECC-1	luminal epithelium:	n/a	chr6:37226312-37226323
49	CEBPD	chr6:37225384-37226100	HepG2	liver:	n/a	n/a
50	POLR2A	chr6:37224713-37227590	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36841093..36843369-chr6:37223969..37226953,2	K562	blood:
2	chr1:161087420..161087937-chr6:37225840..37226373,2	Hela-S3	cervix:
3	chr20:47894748..47895308-chr6:37226051..37226743,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TMEM217	TF binding region
ENSG00000124201	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000137168	Chromatin interaction
ENSG00000177410	Chromatin interaction

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]
rs73419823	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37224800-37226200	Active TSS	Brain Cingulate Gyrus	brain
2	chr6:37224800-37226200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:37224800-37226400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:37224800-37226400	Active TSS	Fetal Kidney	kidney
5	chr6:37224800-37226600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:37224800-37227000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:37224800-37227000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:37224800-37227000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:37224800-37227200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:37224800-37227200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:37224800-37227200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:37224800-37227400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:37224800-37227600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:37225000-37226200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:37225000-37226200	Active TSS	Colon Smooth Muscle	Colon
16	chr6:37225000-37226200	Active TSS	Placenta Amnion	Placenta Amnion
17	chr6:37225000-37226200	Active TSS	Rectal Smooth Muscle	rectum
18	chr6:37225000-37226400	Active TSS	Fetal Intestine Large	intestine
19	chr6:37225000-37226400	Active TSS	Fetal Stomach	stomach
20	chr6:37225000-37226400	Active TSS	Gastric	stomach
21	chr6:37225000-37226400	Active TSS	Pancreas	Pancrea
22	chr6:37225000-37226400	Active TSS	HSMM	muscle
23	chr6:37225000-37226600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:37225000-37226600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr6:37225000-37226600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:37225000-37226600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:37225000-37226600	Active TSS	Aorta	Aorta
28	chr6:37225000-37226600	Active TSS	Brain Germinal Matrix	brain
29	chr6:37225000-37226600	Active TSS	Esophagus	oesophagus
30	chr6:37225000-37226600	Active TSS	HSMMtube	muscle
31	chr6:37225000-37226800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:37225000-37227000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:37225000-37227400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr6:37225000-37227600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:37225200-37226200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:37225200-37226200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:37225200-37226200	Active TSS	Brain Hippocampus Middle	brain
38	chr6:37225200-37226200	Active TSS	Brain Substantia Nigra	brain
39	chr6:37225200-37226200	Active TSS	Duodenum Mucosa	Duodenum
40	chr6:37225200-37226200	Active TSS	Fetal Heart	heart
41	chr6:37225200-37226200	Active TSS	Fetal Lung	lung
42	chr6:37225200-37226200	Active TSS	Thymus	Thymus
43	chr6:37225200-37226400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:37225200-37226400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:37225200-37226400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:37225200-37226400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr6:37225200-37226400	Active TSS	Fetal Intestine Small	intestine
48	chr6:37225200-37226400	Active TSS	Left Ventricle	heart
49	chr6:37225200-37226400	Active TSS	A549	lung
50	chr6:37225200-37226400	Active TSS	HMEC	breast

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