Variant report

Variant	rs11968307
Chromosome Location	chr6:35997508-35997509
allele	A/C
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	STAT3	chr6:35996721-35997653	MCF10A-Er-Src	breast:	n/a	chr6:35997463-35997471 chr6:35997589-35997597
2	CEBPB	chr6:35997274-35997665	HepG2	liver:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
3	EP300	chr6:35997328-35997631	HepG2	liver:	n/a	chr6:35997458-35997472 chr6:35997427-35997436
4	TAF1	chr6:35997336-35997588	Hela-S3	cervix:	n/a	n/a
5	CUX1	chr6:35996711-35997604	K562	blood:	n/a	n/a
6	ARID3A	chr6:35997204-35997606	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:35996541-35997515	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr6:35997304-35997674	MCF-7	breast:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
9	CEBPB	chr6:35997286-35997686	A549	lung:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
10	CEBPB	chr6:35995157-35997700	Hela-S3	cervix:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
11	TAL1	chr6:35997331-35997535	K562	blood:	n/a	n/a
12	STAT3	chr6:35997233-35997629	MCF10A-Er-Src	breast:	n/a	chr6:35997463-35997471 chr6:35997589-35997597
13	STAT3	chr6:35997234-35997605	MCF10A-Er-Src	breast:	n/a	chr6:35997463-35997471 chr6:35997589-35997597
14	CEBPD	chr6:35997257-35997747	K562	blood:	n/a	chr6:35997460-35997471 chr6:35997462-35997471
15	TBP	chr6:35996461-35997747	Hela-S3	cervix:	n/a	n/a
16	FOS	chr6:35996636-35997691	MCF10A-Er-Src	breast:	n/a	n/a
17	HCFC1	chr6:35994955-35997721	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:35997284-35997624	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:35997302-35997659	HepG2	liver:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
20	CEBPB	chr6:35996527-35997726	K562	blood:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
21	TEAD4	chr6:35995090-35997640	K562	blood:	n/a	n/a
22	CEBPB	chr6:35997270-35997685	IMR90	lung:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
23	STAT3	chr6:35997177-35997623	MCF10A-Er-Src	breast:	n/a	chr6:35997463-35997471 chr6:35997589-35997597
24	CEBPB	chr6:35997272-35997669	A549	lung:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
25	SMC3	chr6:35997348-35997617	HepG2	liver:	n/a	n/a
26	E2F4	chr6:35997284-35997620	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPD	chr6:35997369-35997619	HepG2	liver:	n/a	chr6:35997460-35997471 chr6:35997462-35997471
28	CEBPB	chr6:35997184-35997820	MCF-7	breast:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
29	RFX5	chr6:35997293-35997719	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr6:35997222-35997635	ECC-1	luminal epithelium:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
31	UBTF	chr6:35997469-35997508	K562	blood:	n/a	n/a
32	EP300	chr6:35996743-35997641	Hela-S3	cervix:	n/a	chr6:35997458-35997472 chr6:35997427-35997436
33	GATA1	chr6:35996200-35997605	PBDE	blood:	n/a	chr6:35997261-35997268
34	MYC	chr6:35996636-35997717	MCF10A-Er-Src	breast:	n/a	n/a
35	CEBPB	chr6:35997336-35997587	HepG2	liver:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
36	FOS	chr6:35997282-35997631	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr6:35997094-35997637	Hela-S3	cervix:	n/a	chr6:35997463-35997471 chr6:35997589-35997597
38	CEBPB	chr6:35997257-35997677	K562	blood:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
39	MYC	chr6:35996641-35997691	MCF10A-Er-Src	breast:	n/a	n/a
40	EP300	chr6:35996599-35997605	K562	blood:	n/a	chr6:35997458-35997472 chr6:35997427-35997436
41	POLR2A	chr6:35996490-35997636	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr6:35997209-35997616	K562	blood:	n/a	n/a
43	BRCA1	chr6:35997330-35997619	Hela-S3	cervix:	n/a	n/a
44	CEBPD	chr6:35996547-35997688	K562	blood:	n/a	chr6:35997460-35997471 chr6:35997462-35997471
45	ARID3A	chr6:35996520-35997617	K562	blood:	n/a	n/a
46	POLR2A	chr6:35995196-35997514	PBDE	blood:	n/a	n/a
47	FOS	chr6:35997330-35997602	MCF10A-Er-Src	breast:	n/a	n/a
48	CEBPB	chr6:35996701-35997713	K562	blood:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
49	CEBPB	chr6:35997305-35997626	HepG2	liver:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471
50	CEBPB	chr6:35997239-35997638	A549	lung:	n/a	chr6:35997461-35997472 chr6:35997462-35997471 chr6:35997460-35997473 chr6:35997462-35997471 chr6:35997462-35997471 chr6:35997460-35997471 chr6:35997462-35997471

No.	Distal block	Cell Line	Cell type
1	chr6:35992919..35998420-chr6:36043527..36047632,6	K562	blood:
2	chr6:35995409..35998293-chr6:36169969..36172961,2	K562	blood:
3	chr10:21562216..21562789-chr6:35997191..35997782,2	HCT-116	colon:
4	chr6:35992707..35998254-chr6:36162958..36166458,7	K562	blood:
5	chr6:35994574..35998335-chr6:36060182..36063184,5	MCF-7	breast:
6	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:
7	chr6:35993265..35998448-chr6:36161633..36166981,11	K562	blood:
8	chr2:11620746..11622950-chr6:35997193..35998902,2	MCF-7	breast:
9	chr6:35994000..35997973-chr6:36041645..36047090,8	K562	blood:
10	chr6:35996936..35998552-chr6:36020582..36023178,2	K562	blood:
11	chr6:35995997..35997566-chr6:36410510..36413079,2	K562	blood:

Variant related genes	Relation type
SLC26A8	TF binding region
ENSG00000179165	Chromatin interaction
ENSG00000112062	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000112078	Chromatin interaction
ENSG00000237719	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11967286	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16882039	1.00[AMR][1000 genomes]
rs28763973	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs61763103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752369	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs9296167	1.00[AMR][1000 genomes]
rs9296169	1.00[AMR][1000 genomes]
rs9462123	1.00[AMR][1000 genomes]
rs9462137	1.00[AMR][1000 genomes]
rs9462139	1.00[AMR][1000 genomes]
rs9462148	1.00[AMR][1000 genomes]
rs9462149	1.00[AMR][1000 genomes]
rs9470106	1.00[AMR][1000 genomes]
rs9470107	1.00[AMR][1000 genomes]
rs9470110	1.00[AMR][1000 genomes]
rs9470129	1.00[AMR][1000 genomes]
rs9470137	1.00[AMR][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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv528432	chr6:35958871-36035354	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35994400-35997600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:35994800-35997800	Active TSS	Hela-S3	cervix
3	chr6:35995000-35997600	Active TSS	Colonic Mucosa	Colon
4	chr6:35995000-35997600	Active TSS	Fetal Kidney	kidney
5	chr6:35995000-35997800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:35995000-35997800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:35995000-35997800	Active TSS	Fetal Intestine Small	intestine
8	chr6:35995000-35997800	Active TSS	HSMMtube	muscle
9	chr6:35995000-35998000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:35995000-35998000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:35995000-35998000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:35995000-35998000	Active TSS	A549	lung
13	chr6:35995000-35998000	Active TSS	HSMM	muscle
14	chr6:35995000-35998200	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:35995000-35998200	Active TSS	HMEC	breast
16	chr6:35995000-35998200	Active TSS	NHLF	lung
17	chr6:35995000-35998400	Active TSS	Psoas Muscle	Psoas
18	chr6:35995000-35998400	Active TSS	Rectal Smooth Muscle	rectum
19	chr6:35995000-35998400	Active TSS	GM12878-XiMat	blood
20	chr6:35995000-35998600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:35995000-35998600	Active TSS	Muscle Satellite Cultured Cells	--
22	chr6:35995000-35998800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:35995200-35997600	Active TSS	Fetal Brain Male	brain
24	chr6:35995200-35997600	Active TSS	Fetal Muscle Leg	muscle
25	chr6:35995200-35997600	Active TSS	Placenta	Placenta
26	chr6:35995200-35997600	Active TSS	Ovary	ovary
27	chr6:35995200-35997800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:35995200-35997800	Active TSS	Fetal Stomach	stomach
29	chr6:35995200-35998000	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr6:35995200-35998000	Active TSS	Fetal Intestine Large	intestine
31	chr6:35995200-35998200	Active TSS	NHDF-Ad	bronchial
32	chr6:35995200-35998400	Active TSS	Thymus	Thymus
33	chr6:35995200-35998600	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr6:35995400-35997600	Active TSS	Primary T cells fromperipheralblood	blood
35	chr6:35995400-35997600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:35995400-35997600	Active TSS	Left Ventricle	heart
37	chr6:35995400-35997600	Active TSS	Stomach Mucosa	stomach
38	chr6:35995400-35997800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:35995400-35997800	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr6:35995400-35997800	Active TSS	Colon Smooth Muscle	Colon
41	chr6:35995400-35997800	Active TSS	Fetal Thymus	thymus
42	chr6:35995400-35998000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:35995400-35998000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:35995400-35998000	Active TSS	Right Ventricle	heart
45	chr6:35995600-35997600	Active TSS	Aorta	Aorta
46	chr6:35995600-35997800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:35996200-35997800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:35996200-35998600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr6:35996400-35997600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:35996400-35997600	Active TSS	Skeletal Muscle Male	skeletal muscle

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