Variant report

Variant	rs11970265
Chromosome Location	chr6:37225141-37225142
allele	A/G
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	BHLHE40	chr6:37224875-37226169	K562	blood:	n/a	n/a
2	NFYA	chr6:37224965-37225992	Hela-S3	cervix:	n/a	chr6:37225472-37225490
3	SP1	chr6:37224904-37226056	HCT-116	colon:	n/a	chr6:37225956-37225968 chr6:37225957-37225966 chr6:37225953-37225967
4	MYC	chr6:37224955-37226440	K562	blood:	n/a	chr6:37225049-37225056 chr6:37225046-37225057
5	STAT3	chr6:37224650-37225442	MCF10A-Er-Src	breast:	n/a	chr6:37224791-37224803 chr6:37225019-37225031
6	NR2F2	chr6:37224840-37226930	K562	blood:	n/a	n/a
7	NFYB	chr6:37224990-37226371	Hela-S3	cervix:	n/a	n/a
8	FOS	chr6:37224655-37225507	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:37224713-37227590	MCF10A-Er-Src	breast:	n/a	n/a
10	MYBL2	chr6:37225109-37225853	HepG2	liver:	n/a	n/a
11	HCFC1	chr6:37224795-37226730	Hela-S3	cervix:	n/a	n/a
12	FOS	chr6:37224655-37225152	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr6:37225128-37226285	HepG2	liver:	n/a	n/a
14	YY1	chr6:37225129-37226363	HepG2	liver:	n/a	n/a
15	STAT3	chr6:37224693-37225408	MCF10A-Er-Src	breast:	n/a	chr6:37224791-37224803 chr6:37225019-37225031
16	TBP	chr6:37225140-37225645	Hela-S3	cervix:	n/a	n/a
17	ZNF143	chr6:37224995-37226296	K562	blood:	n/a	chr6:37225950-37225968
18	EP300	chr6:37225132-37226271	K562	blood:	n/a	chr6:37225948-37225964
19	JUND	chr6:37224834-37226682	K562	blood:	n/a	n/a
20	MXI1	chr6:37224982-37226192	GM12878	blood:	n/a	n/a
21	NRF1	chr6:37225012-37225638	K562	blood:	n/a	n/a
22	PRDM1	chr6:37224731-37225374	Hela-S3	cervix:	n/a	chr6:37224932-37224941 chr6:37224928-37224942 chr6:37224927-37224942
23	STAT3	chr6:37224670-37225469	MCF10A-Er-Src	breast:	n/a	chr6:37224791-37224803 chr6:37225019-37225031
24	HCFC1	chr6:37224953-37226616	K562	blood:	n/a	n/a
25	POLR2A	chr6:37225083-37226116	ECC-1	luminal epithelium:	n/a	n/a
26	NFYA	chr6:37225046-37226448	K562	blood:	n/a	chr6:37225472-37225490
27	POLR2A	chr6:37224784-37227469	IMR90	lung:	n/a	n/a
28	MXI1	chr6:37225114-37225732	K562	blood:	n/a	n/a
29	MAFK	chr6:37224484-37225148	HepG2	liver:	n/a	chr6:37224657-37224668 chr6:37224655-37224669 chr6:37224656-37224667 chr6:37224656-37224667 chr6:37224657-37224668
30	REST	chr6:37225084-37226231	H1-neurons	neurons:	n/a	n/a
31	ZEB1	chr6:37225136-37226052	GM12878	blood:	n/a	n/a
32	MAZ	chr6:37225051-37226474	K562	blood:	n/a	n/a
33	MAFK	chr6:37224511-37226308	K562	blood:	n/a	chr6:37224657-37224668 chr6:37224655-37224669 chr6:37224656-37224667 chr6:37224656-37224667 chr6:37224657-37224668
34	NFYB	chr6:37225076-37226188	K562	blood:	n/a	n/a
35	CREB1	chr6:37225054-37226466	HepG2	liver:	n/a	n/a
36	E2F4	chr6:37224737-37226098	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr6:37224978-37225182	H1-hESC	embryonic stem cell:	n/a	chr6:37225049-37225056 chr6:37225046-37225057
38	MAX	chr6:37224941-37226067	ECC-1	luminal epithelium:	n/a	chr6:37225049-37225056 chr6:37225046-37225057
39	HEY1	chr6:37225117-37226308	HepG2	liver:	n/a	n/a
40	CHD2	chr6:37225112-37226478	K562	blood:	n/a	n/a
41	MAX	chr6:37225028-37226236	K562	blood:	n/a	chr6:37225049-37225056 chr6:37225046-37225057
42	YY1	chr6:37225045-37226392	SK-N-SH	brain:	n/a	n/a
43	CBX3	chr6:37224796-37226431	K562	blood:	n/a	n/a
44	CREB1	chr6:37225082-37226351	K562	blood:	n/a	n/a
45	BHLHE40	chr6:37224923-37226164	HepG2	liver:	n/a	n/a
46	SP1	chr6:37224978-37226033	HCT-116	colon:	n/a	chr6:37225956-37225968 chr6:37225957-37225966 chr6:37225953-37225967
47	ATF1	chr6:37224832-37226441	K562	blood:	n/a	n/a
48	TAF1	chr6:37225114-37226274	ECC-1	luminal epithelium:	n/a	n/a
49	MYC	chr6:37225065-37225636	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:37225123-37226488	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36841093..36843369-chr6:37223969..37226953,2	K562	blood:
2	chr19:531142..531811-chr6:37224585..37225554,2	HCT-116	colon:

Variant related genes	Relation type
TBC1D22B	TF binding region
ENSG00000137168	Chromatin interaction
ENSG00000099804	Chromatin interaction

rs_ID	r²[population]
rs11548070	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11961544	1.00[EUR][1000 genomes]
rs11961609	1.00[EUR][1000 genomes]
rs11961942	1.00[EUR][1000 genomes]
rs11963012	1.00[EUR][1000 genomes]
rs11964774	1.00[EUR][1000 genomes]
rs11965707	1.00[EUR][1000 genomes]
rs11966215	1.00[EUR][1000 genomes]
rs11966913	1.00[EUR][1000 genomes]
rs11970519	1.00[EUR][1000 genomes]
rs1224289	0.95[YRI][hapmap]
rs149702	0.91[YRI][hapmap]
rs149705	1.00[YRI][hapmap]
rs149707	1.00[YRI][hapmap]
rs149711	0.91[YRI][hapmap]
rs149712	1.00[YRI][hapmap]
rs195379	1.00[TSI][hapmap]
rs195386	1.00[TSI][hapmap]
rs195421	0.90[YRI][hapmap]
rs195422	0.83[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs195424	0.91[YRI][hapmap]
rs195425	1.00[YRI][hapmap]
rs195426	1.00[YRI][hapmap]
rs2284924	1.00[TSI][hapmap]
rs55774623	1.00[EUR][1000 genomes]
rs55901294	1.00[EUR][1000 genomes]
rs56008535	1.00[EUR][1000 genomes]
rs56017152	1.00[EUR][1000 genomes]
rs56201211	1.00[EUR][1000 genomes]
rs56331451	1.00[EUR][1000 genomes]
rs56402325	1.00[EUR][1000 genomes]
rs56992129	1.00[EUR][1000 genomes]
rs56995621	1.00[EUR][1000 genomes]
rs57091508	1.00[EUR][1000 genomes]
rs57137816	1.00[EUR][1000 genomes]
rs57167818	1.00[EUR][1000 genomes]
rs57194078	1.00[EUR][1000 genomes]
rs57300303	1.00[EUR][1000 genomes]
rs57379477	1.00[EUR][1000 genomes]
rs57620048	1.00[EUR][1000 genomes]
rs57879855	1.00[EUR][1000 genomes]
rs57904157	1.00[EUR][1000 genomes]
rs58277176	1.00[EUR][1000 genomes]
rs58315142	1.00[EUR][1000 genomes]
rs58819653	1.00[EUR][1000 genomes]
rs58931517	1.00[EUR][1000 genomes]
rs58943251	1.00[EUR][1000 genomes]
rs59078138	1.00[EUR][1000 genomes]
rs59230765	1.00[EUR][1000 genomes]
rs59413560	1.00[EUR][1000 genomes]
rs59584013	1.00[EUR][1000 genomes]
rs59827015	1.00[EUR][1000 genomes]
rs59910191	1.00[EUR][1000 genomes]
rs60081780	1.00[EUR][1000 genomes]
rs60135241	1.00[EUR][1000 genomes]
rs60144484	1.00[EUR][1000 genomes]
rs60153228	1.00[EUR][1000 genomes]
rs60460682	1.00[EUR][1000 genomes]
rs60567861	1.00[EUR][1000 genomes]
rs60924029	1.00[EUR][1000 genomes]
rs61035057	1.00[EUR][1000 genomes]
rs61175584	1.00[EUR][1000 genomes]
rs61271443	1.00[EUR][1000 genomes]
rs61431090	1.00[EUR][1000 genomes]
rs61435770	1.00[EUR][1000 genomes]
rs6903801	1.00[EUR][1000 genomes]
rs6905400	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6906388	1.00[EUR][1000 genomes]
rs6907008	1.00[EUR][1000 genomes]
rs6908216	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6909751	1.00[EUR][1000 genomes]
rs6911541	1.00[EUR][1000 genomes]
rs6911592	1.00[EUR][1000 genomes]
rs6916893	1.00[EUR][1000 genomes]
rs6919142	1.00[EUR][1000 genomes]
rs6919900	1.00[EUR][1000 genomes]
rs6920007	1.00[EUR][1000 genomes]
rs6926325	1.00[EUR][1000 genomes]
rs6926402	1.00[EUR][1000 genomes]
rs6932222	1.00[EUR][1000 genomes]
rs6933701	1.00[EUR][1000 genomes]
rs6934560	1.00[EUR][1000 genomes]
rs6940193	1.00[EUR][1000 genomes]
rs6941767	0.80[YRI][hapmap]
rs73417893	1.00[EUR][1000 genomes]
rs73417899	1.00[EUR][1000 genomes]
rs73419818	1.00[EUR][1000 genomes]
rs73419821	1.00[EUR][1000 genomes]
rs73419823	1.00[EUR][1000 genomes]
rs73419828	1.00[EUR][1000 genomes]
rs73419831	1.00[EUR][1000 genomes]
rs73419832	1.00[EUR][1000 genomes]
rs73419842	1.00[EUR][1000 genomes]
rs73419844	1.00[EUR][1000 genomes]
rs73419847	1.00[EUR][1000 genomes]
rs73419848	1.00[EUR][1000 genomes]
rs73419851	1.00[EUR][1000 genomes]
rs73419858	1.00[EUR][1000 genomes]
rs73419870	1.00[EUR][1000 genomes]
rs73419874	1.00[EUR][1000 genomes]
rs73419875	1.00[EUR][1000 genomes]
rs73419885	1.00[EUR][1000 genomes]
rs73419889	1.00[EUR][1000 genomes]
rs73419894	1.00[EUR][1000 genomes]
rs73419895	1.00[EUR][1000 genomes]
rs73419902	1.00[EUR][1000 genomes]
rs73421904	1.00[EUR][1000 genomes]
rs73421905	1.00[EUR][1000 genomes]
rs73421911	1.00[EUR][1000 genomes]
rs73421916	1.00[EUR][1000 genomes]
rs73421942	1.00[EUR][1000 genomes]
rs73421945	1.00[EUR][1000 genomes]
rs73421961	1.00[EUR][1000 genomes]
rs73421965	1.00[EUR][1000 genomes]
rs73421969	1.00[EUR][1000 genomes]
rs73421970	1.00[EUR][1000 genomes]
rs73423614	1.00[EUR][1000 genomes]
rs73423615	1.00[EUR][1000 genomes]
rs73423617	1.00[EUR][1000 genomes]
rs73730562	1.00[EUR][1000 genomes]
rs73730590	1.00[EUR][1000 genomes]
rs73732936	1.00[EUR][1000 genomes]
rs7740399	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7748450	1.00[EUR][1000 genomes]
rs7748706	1.00[EUR][1000 genomes]
rs7750754	1.00[EUR][1000 genomes]
rs7753853	1.00[TSI][hapmap]
rs7759469	1.00[EUR][1000 genomes]
rs7762309	1.00[EUR][1000 genomes]
rs7764918	1.00[EUR][1000 genomes]
rs7766759	1.00[EUR][1000 genomes]
rs7768516	1.00[EUR][1000 genomes]
rs7773185	1.00[EUR][1000 genomes]
rs7773273	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9470472	1.00[TSI][hapmap]
rs9918399	1.00[TSI][hapmap]

SNP	Gene	Cis/trans	Tissue	Source
rs11970265	TMEM217	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37213400-37225600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:37214800-37225200	Weak transcription	Ovary	ovary
3	chr6:37222800-37225400	Flanking Active TSS	Dnd41	blood
4	chr6:37223000-37225400	Weak transcription	Lung	lung
5	chr6:37224600-37225200	Flanking Active TSS	K562	blood
6	chr6:37224600-37225200	Flanking Active TSS	Osteobl	bone
7	chr6:37224600-37225600	Weak transcription	Small Intestine	intestine
8	chr6:37224600-37226000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr6:37224800-37225200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:37224800-37225200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:37224800-37225200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:37224800-37225200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr6:37224800-37225200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:37224800-37225200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr6:37224800-37225200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr6:37224800-37225200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:37224800-37225200	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr6:37224800-37225200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr6:37224800-37225200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:37224800-37225200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr6:37224800-37225200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:37224800-37225200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr6:37224800-37225200	Flanking Active TSS	GM12878-XiMat	blood
24	chr6:37224800-37225200	Flanking Active TSS	HMEC	breast
25	chr6:37224800-37225200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr6:37224800-37225200	Flanking Active TSS	NHLF	lung
27	chr6:37224800-37225400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:37224800-37225400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr6:37224800-37225400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:37224800-37225400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:37224800-37225400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:37224800-37225400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:37224800-37225400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr6:37224800-37225400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:37224800-37225400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr6:37224800-37225400	Flanking Active TSS	NHEK	skin
37	chr6:37224800-37225600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:37224800-37226000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:37224800-37226000	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:37224800-37226000	Active TSS	Brain Angular Gyrus	brain
41	chr6:37224800-37226200	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:37224800-37226200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:37224800-37226400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:37224800-37226400	Active TSS	Fetal Kidney	kidney
45	chr6:37224800-37226600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:37224800-37227000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr6:37224800-37227000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:37224800-37227000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr6:37224800-37227200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr6:37224800-37227200	Active TSS	HUES48 Cell Line	embryonic stem cell

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