Variant report

Variant	rs11153426
Chromosome Location	chr6:113954470-113954471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:113951696-113954574	GM19193	blood:	n/a	n/a
2	CTCF	chr6:113954440-113954590	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr6:113954400-113954550	HEK293	kidney:	n/a	n/a
4	POLR2A	chr6:113947678-113954616	GM18505	blood:	n/a	n/a
5	CTCF	chr6:113954400-113954550	AG09319	gingival:	n/a	n/a
6	CTCF	chr6:113954320-113954470	SK-N-SH_RA	brain:	n/a	n/a
7	MTA3	chr6:113950500-113954519	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:113946675-113954654	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:113951865-113954691	GM12878	blood:	n/a	n/a
10	NFIC	chr6:113950913-113954521	GM12878	blood:	n/a	n/a
11	CTCF	chr6:113954440-113954590	HEK293	kidney:	n/a	n/a
12	WRNIP1	chr6:113954416-113954520	GM12878	blood:	n/a	n/a
13	CTCF	chr6:113954405-113954491	GM13977	blood:	n/a	n/a
14	POLR2A	chr6:113953343-113954624	GM12892	blood:	n/a	n/a
15	POLR2A	chr6:113951646-113954647	GM12878	blood:	n/a	n/a
16	ZNF263	chr6:113954251-113954626	HEK293-T-REx	kidney:	n/a	n/a
17	CTCF	chr6:113954400-113954523	MCF-7	breast:	n/a	n/a
18	POLR2A	chr6:113953327-113954650	GM12892	blood:	n/a	n/a
19	POLR2A	chr6:113946756-113954932	GM12878	blood:	n/a	n/a
20	CTCF	chr6:113954380-113954530	SAEC	small airway:	n/a	n/a
21	CTCF	chr6:113954387-113954533	GM12892	blood:	n/a	n/a
22	POLR2A	chr6:113954067-113954542	GM12878	blood:	n/a	n/a
23	RAD21	chr6:113954436-113954533	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:113951847-113954631	GM12891	blood:	n/a	n/a
25	CTCF	chr6:113954360-113954510	SAEC	small airway:	n/a	n/a
26	CTCF	chr6:113954419-113954498	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr6:113954403-113954537	GM12891	blood:	n/a	n/a
28	CTCF	chr6:113954450-113954502	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:113954320-113954470	HCT-116	colon:	n/a	n/a
30	CTCF	chr6:113954417-113954505	NHEK	skin:	n/a	n/a
31	CTCF	chr6:113954398-113954538	MCF-7	breast:	n/a	n/a
32	RAD21	chr6:113954317-113954518	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:113951779-113954569	GM12892	blood:	n/a	n/a
34	POLR2A	chr6:113954452-113954584	MCF10A-Er-Src	breast:	n/a	n/a
35	RELA	chr6:113949952-113954522	GM12891	blood:	n/a	chr6:113951758-113951767 chr6:113951758-113951767
36	CTCF	chr6:113954400-113954550	HMEC	breast:	n/a	n/a
37	CTCF	chr6:113954410-113954524	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr6:113954430-113954517	GM19239	blood:	n/a	n/a
39	CTCF	chr6:113954411-113954531	GM19240	blood:	n/a	n/a
40	CTCF	chr6:113954400-113954550	GM12869	blood:	n/a	n/a
41	CTCF	chr6:113954440-113954590	HCT-116	colon:	n/a	n/a
42	CTCF	chr6:113954400-113954550	NHEK	skin:	n/a	n/a
43	RAD21	chr6:113954279-113954569	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr6:113954416-113954612	GM12878	blood:	n/a	n/a
45	CTCF	chr6:113954420-113954570	HCM	heart:	n/a	n/a
46	CTCF	chr6:113954440-113954590	GM12864	blood:	n/a	n/a
47	POLR2A	chr6:113953336-113954548	GM12891	blood:	n/a	n/a
48	CTCF	chr6:113954408-113954500	MCF-7	breast:	n/a	n/a
49	POLR2A	chr6:113953313-113954470	GM12891	blood:	n/a	n/a
50	CTCF	chr6:113954416-113954494	GM10248	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:113753088..113757268-chr6:113951584..113954499,3	MCF-7	breast:
2	chr6:113951154..113956306-chr6:114178159..114180970,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230943	TF binding region
ENSG00000232316	Chromatin interaction
ENSG00000155130	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10732719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339041	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1383805	0.83[AMR][1000 genomes]
rs1481433	0.83[AMR][1000 genomes]
rs1538460	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2003888	1.00[AMR][1000 genomes]
rs2127989	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs413599	0.82[AFR][1000 genomes]
rs422286	0.84[AFR][1000 genomes]
rs4632923	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4945500	0.83[AMR][1000 genomes]
rs4945960	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4945961	0.83[AMR][1000 genomes]
rs4945962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6911610	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6917191	1.00[AMR][1000 genomes]
rs6925360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6930982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6940419	0.83[AMR][1000 genomes]
rs922722	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9320466	0.83[AMR][1000 genomes]
rs9374409	0.83[AMR][1000 genomes]
rs9374413	0.84[AFR][1000 genomes]
rs9384877	0.86[AFR][1000 genomes]
rs9387158	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9387163	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9400646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9400647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9400648	0.83[AMR][1000 genomes]
rs9400655	1.00[AMR][1000 genomes]

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113943000-113956400	Weak transcription	Esophagus	oesophagus
2	chr6:113946600-113956000	Flanking Active TSS	GM12878-XiMat	blood
3	chr6:113951800-113954600	Enhancers	Fetal Thymus	thymus
4	chr6:113952000-113954600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:113952000-113954600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:113952000-113954600	Enhancers	Placenta	Placenta
7	chr6:113952400-113958400	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:113952600-113957000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:113952600-113957600	Weak transcription	Gastric	stomach
10	chr6:113953200-113957800	Enhancers	Primary B cells from cord blood	blood
11	chr6:113953200-113958000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:113953400-113954800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr6:113953600-113954600	Enhancers	Pancreas	Pancrea
14	chr6:113953600-113956000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr6:113953800-113954600	Enhancers	Lung	lung
16	chr6:113953800-113955600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:113953800-113955800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:113953800-113957000	Enhancers	Fetal Intestine Small	intestine
19	chr6:113953800-113958000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:113954000-113954600	Enhancers	Adipose Nuclei	Adipose
21	chr6:113954000-113954600	Enhancers	Colonic Mucosa	Colon
22	chr6:113954000-113954600	Enhancers	Duodenum Mucosa	Duodenum
23	chr6:113954000-113954600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:113954000-113954600	Enhancers	Right Atrium	heart
25	chr6:113954000-113954600	Enhancers	HUVEC	blood vessel
26	chr6:113954000-113954600	Enhancers	NH-A	brain
27	chr6:113954000-113954800	Enhancers	NHLF	lung
28	chr6:113954000-113955000	Enhancers	A549	lung
29	chr6:113954000-113955200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:113954000-113955600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:113954000-113956000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:113954000-113956200	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:113954000-113956400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr6:113954000-113957000	Enhancers	Stomach Mucosa	stomach
35	chr6:113954000-113957600	Weak transcription	Liver	Liver
36	chr6:113954000-113958000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:113954000-113958200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:113954000-113958400	Enhancers	Fetal Intestine Large	intestine
39	chr6:113954000-113958400	Enhancers	NHEK	skin
40	chr6:113954000-113958600	Enhancers	HepG2	liver
41	chr6:113954000-113963800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:113954200-113954600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:113954200-113954600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:113954200-113954600	Enhancers	Psoas Muscle	Psoas
45	chr6:113954200-113954600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr6:113954200-113954600	Enhancers	Spleen	Spleen
47	chr6:113954200-113954800	Enhancers	Hela-S3	cervix
48	chr6:113954200-113954800	Enhancers	NHDF-Ad	bronchial
49	chr6:113954200-113954800	Enhancers	Osteobl	bone
50	chr6:113954200-113955000	Enhancers	HMEC	breast

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