Variant report

Variant	rs11753970
Chromosome Location	chr6:27103833-27103834
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr6:27103758-27104227	K562	blood:	n/a	n/a
2	JUND	chr6:27103789-27104019	K562	blood:	n/a	n/a
3	TBL1XR1	chr6:27103830-27103916	K562	blood:	n/a	n/a
4	POLR2A	chr6:27103733-27104330	K562	blood:	n/a	n/a
5	STAT5A	chr6:27103501-27104023	K562	blood:	n/a	n/a
6	POLR2A	chr6:27103823-27105382	K562	blood:	n/a	n/a
7	PML	chr6:27096019-27105651	K562	blood:	n/a	n/a
8	HEY1	chr6:27103771-27104356	K562	blood:	n/a	n/a
9	TBL1XR1	chr6:27103736-27104449	K562	blood:	n/a	n/a
10	POLR2A	chr6:27086098-27108353	K562	blood:	n/a	n/a
11	BCL3	chr6:27103528-27104666	K562	blood:	n/a	n/a
12	POLR2A	chr6:27103723-27104465	K562	blood:	n/a	n/a
13	POLR2A	chr6:27103730-27105638	K562	blood:	n/a	n/a
14	TEAD4	chr6:27103586-27105479	K562	blood:	n/a	n/a
15	HEY1	chr6:27103558-27104354	K562	blood:	n/a	n/a
16	NR2F2	chr6:27103648-27104443	K562	blood:	n/a	n/a
17	YY1	chr6:27103780-27104248	K562	blood:	n/a	n/a
18	POLR2A	chr6:27103670-27105876	K562	blood:	n/a	n/a
19	BCLAF1	chr6:27091775-27117112	K562	blood:	n/a	chr6:27098256-27098265 chr6:27096184-27096192 chr6:27116085-27116094
20	POLR2A	chr6:27091108-27108432	K562	blood:	n/a	n/a
21	SPI1	chr6:27103771-27103967	K562	blood:	n/a	n/a
22	MXI1	chr6:27103761-27104068	K562	blood:	n/a	n/a
23	POLR2A	chr6:27103785-27104009	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:27091828-27108321	K562	blood:	n/a	n/a
25	POLR2A	chr6:27103657-27104281	K562	blood:	n/a	n/a
26	CHD2	chr6:27103724-27108349	K562	blood:	n/a	n/a
27	MAX	chr6:27103828-27104212	K562	blood:	n/a	n/a
28	POLR2A	chr6:27103641-27104249	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:26283553..26287733-chr6:27097522..27103890,12	K562	blood:
2	chr6:27102170..27104953-chr6:27471758..27474293,3	K562	blood:
3	chr6:26181582..26185463-chr6:27101423..27104248,3	MCF-7	breast:
4	chr6:26334953..26336656-chr6:27103104..27105866,2	K562	blood:
5	chr6:27096288..27105112-chr6:27855525..27865082,32	K562	blood:
6	chr6:27102473..27104243-chr6:27320205..27322681,2	K562	blood:
7	chr2:190441665..190443779-chr6:27103108..27105196,2	K562	blood:
8	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
9	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
10	chr6:26155271..26161648-chr6:27095163..27104437,21	K562	blood:
11	chr6:27102706..27104953-chr6:27472602..27474293,2	K562	blood:
12	chr6:26196890..26209578-chr6:27096615..27108451,46	K562	blood:
13	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
14	chr6:26231234..26236589-chr6:27099738..27104932,8	K562	blood:
15	chr6:26026115..26036040-chr6:27097153..27104835,26	K562	blood:
16	chr6:27102022..27104611-chr6:27640274..27642821,2	K562	blood:
17	chr6:26024161..26035534-chr6:27093020..27104638,25	K562	blood:
18	chr6:27102918..27104491-chr7:26227359..26229692,2	K562	blood:
19	chr6:26213328..26219374-chr6:27098401..27104203,12	MCF-7	breast:
20	chr6:27101791..27104420-chr6:27598457..27600061,2	K562	blood:
21	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
22	chr6:26606677..26610844-chr6:27101596..27105615,4	K562	blood:
23	chr6:27098188..27105257-chr6:27800590..27808222,20	K562	blood:
24	chr6:27102356..27104874-chr6:27257312..27259023,2	K562	blood:
25	chr6:27056434..27058282-chr6:27103092..27105227,2	K562	blood:
26	chr6:26124860..26126999-chr6:27103096..27105177,2	MCF-7	breast:
27	chr6:26155265..26160650-chr6:27098824..27104648,17	MCF-7	breast:
28	chr6:26215032..26220721-chr6:27098305..27106549,21	K562	blood:
29	chr6:26196435..26200575-chr6:27099094..27104350,6	MCF-7	breast:
30	chr6:26119257..26128074-chr6:27097161..27104707,27	K562	blood:
31	chr6:26155271..26160589-chr6:27100238..27104946,9	K562	blood:
32	chr6:26494451..26496936-chr6:27102334..27103883,2	K562	blood:
33	chr6:27058956..27061096-chr6:27102965..27105025,2	K562	blood:
34	chr6:26269718..26276565-chr6:27099393..27105112,10	MCF-7	breast:
35	chr6:26283553..26288411-chr6:27099109..27103890,9	K562	blood:
36	chr6:27101622..27104522-chr6:27804766..27807431,2	MCF-7	breast:
37	chr22:21353502..21355060-chr6:27101907..27104639,2	K562	blood:
38	chr6:26122692..26125456-chr6:27103401..27105716,2	MCF-7	breast:
39	chr6:26577794..26579941-chr6:27103035..27105397,2	K562	blood:
40	chr6:27101410..27104536-chr6:27598457..27600992,3	K562	blood:
41	chr6:26585934..26588947-chr6:27103100..27106141,3	K562	blood:
42	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
43	chr6:26520359..26523737-chr6:27102061..27104893,3	K562	blood:
44	chr6:27098259..27104331-chr6:27773668..27779939,16	MCF-7	breast:
45	chr6:26327533..26330637-chr6:27103047..27105272,3	K562	blood:
46	chr6:26513300..26515885-chr6:27101929..27104136,2	K562	blood:
47	chr6:26593362..26600987-chr6:27097692..27106488,18	K562	blood:
48	chr6:26594524..26600977-chr6:27096034..27104390,19	K562	blood:
49	chr6:27101946..27104264-chr6:27136179..27138427,2	MCF-7	breast:
50	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:

No data

Variant related genes	Relation type
HIST1H4I	TF binding region
HIST1H2BJ	TF binding region
ENSG00000146109	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000218281	Chromatin interaction
ENSG00000238648	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000238610	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10484392	0.82[AFR][1000 genomes]
rs10484393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10484394	0.82[AFR][1000 genomes]
rs11751254	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11751689	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11751711	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11755181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11755692	0.84[AFR][1000 genomes]
rs11757483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11758093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11759771	0.82[AFR][1000 genomes]
rs12110621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12111326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16894088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16894325	1.00[EUR][1000 genomes]
rs16894520	0.82[AFR][1000 genomes]
rs2008668	1.00[EUR][1000 genomes]
rs2393823	1.00[EUR][1000 genomes]
rs2393912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2393913	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2393914	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36002224	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4278000	1.00[EUR][1000 genomes]
rs4602717	1.00[EUR][1000 genomes]
rs55792674	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56051102	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258900	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56970208	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57331553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57930834	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58104274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59159741	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59405634	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59701289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60614605	1.00[EUR][1000 genomes]
rs61050868	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61745028	1.00[EUR][1000 genomes]
rs6932003	1.00[EUR][1000 genomes]
rs73739525	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739535	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739536	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739541	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739543	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739544	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739550	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739558	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739561	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739563	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739569	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739574	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739583	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739584	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740414	0.82[AFR][1000 genomes]
rs7751878	1.00[EUR][1000 genomes]
rs7770815	1.00[EUR][1000 genomes]
rs9357029	1.00[EUR][1000 genomes]
rs9368487	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27098800-27104600	Active TSS	K562	blood
2	chr6:27101800-27107000	Weak transcription	Gastric	stomach
3	chr6:27101800-27107000	Weak transcription	Left Ventricle	heart
4	chr6:27101800-27107000	Weak transcription	Lung	lung
5	chr6:27101800-27107000	Weak transcription	Pancreas	Pancrea
6	chr6:27101800-27107000	Weak transcription	Small Intestine	intestine
7	chr6:27101800-27112800	Weak transcription	HSMMtube	muscle
8	chr6:27102000-27104600	Weak transcription	Liver	Liver
9	chr6:27102000-27106600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:27102000-27106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:27102000-27106600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:27102000-27106800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:27102000-27106800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:27102000-27106800	Weak transcription	Adipose Nuclei	Adipose
15	chr6:27102000-27107000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:27102000-27107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:27102000-27107000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:27102000-27107000	Weak transcription	Esophagus	oesophagus
19	chr6:27102000-27107000	Weak transcription	HSMM	muscle
20	chr6:27102200-27104000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:27102200-27104000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr6:27102200-27106000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:27102200-27106200	Weak transcription	Fetal Lung	lung
24	chr6:27102200-27106400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:27102200-27106600	Weak transcription	NHDF-Ad	bronchial
26	chr6:27102200-27106800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:27102200-27106800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:27102200-27106800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:27102200-27106800	Weak transcription	NH-A	brain
30	chr6:27102200-27112600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:27102400-27104000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:27102400-27104200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:27102400-27104800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:27102400-27104800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:27102400-27104800	Weak transcription	HepG2	liver
36	chr6:27102400-27105000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:27102400-27105400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:27102400-27105400	Weak transcription	Placenta	Placenta
39	chr6:27102400-27105800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:27102400-27106000	Weak transcription	Fetal Kidney	kidney
41	chr6:27102400-27106200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:27102400-27106200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:27102400-27106400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:27102400-27106400	Weak transcription	Brain Germinal Matrix	brain
45	chr6:27102400-27106400	Weak transcription	HUVEC	blood vessel
46	chr6:27102400-27106600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:27102400-27106600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:27102400-27106600	Weak transcription	Fetal Brain Male	brain
49	chr6:27102400-27106600	Weak transcription	Fetal Brain Female	brain
50	chr6:27102400-27106600	Weak transcription	Rectal Mucosa Donor 31	rectum

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