Variant report

Variant	rs1633081
Chromosome Location	chr6:29716901-29716902
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	MAZ	chr6:29716018-29717456	K562	blood:	n/a	chr6:29716903-29716913
2	MAX	chr6:29716606-29716989	Hela-S3	cervix:	n/a	chr6:29716903-29716913
3	POLR2A	chr6:29716531-29717127	ECC-1	luminal epithelium:	n/a	n/a
4	CCNT2	chr6:29716492-29717060	K562	blood:	n/a	chr6:29716836-29716845
5	USF1	chr6:29716648-29717027	HepG2	liver:	n/a	chr6:29716825-29716836
6	POLR2A	chr6:29716427-29717193	MCF-7	breast:	n/a	n/a
7	MAZ	chr6:29716351-29717273	Hela-S3	cervix:	n/a	chr6:29716903-29716913
8	USF2	chr6:29716692-29716997	HepG2	liver:	n/a	chr6:29716825-29716836
9	E2F6	chr6:29716422-29717102	A549	lung:	n/a	chr6:29716885-29716894 chr6:29716995-29717010 chr6:29716642-29716651 chr6:29717009-29717016
10	POLR2A	chr6:29716455-29717230	GM12892	blood:	n/a	n/a
11	CHD2	chr6:29716594-29717070	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr6:29716755-29716940	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:29716559-29717173	GM15510	blood:	n/a	n/a
14	POLR2A	chr6:29716473-29717834	PFSK-1	brain:	n/a	n/a
15	ZMIZ1	chr6:29716757-29716913	K562	blood:	n/a	n/a
16	BHLHE40	chr6:29716713-29717497	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:29716484-29717143	MCF-7	breast:	n/a	n/a
18	TAF1	chr6:29716541-29717286	PFSK-1	brain:	n/a	n/a
19	TBL1XR1	chr6:29716632-29716906	GM12878	blood:	n/a	n/a
20	SP1	chr6:29716641-29717130	HepG2	liver:	n/a	chr6:29716899-29716913 chr6:29716903-29716912 chr6:29716835-29716844 chr6:29716904-29716913 chr6:29716834-29716845 chr6:29716902-29716914 chr6:29716903-29716913 chr6:29716902-29716914
21	POLR2A	chr6:29716517-29717127	ProgFib	skin:	n/a	n/a
22	POLR2A	chr6:29716334-29717147	Hela-S3	cervix:	n/a	n/a
23	ELF1	chr6:29716442-29717362	GM12878	blood:	n/a	chr6:29716630-29716642 chr6:29716999-29717008 chr6:29716577-29716589
24	NFYA	chr6:29716759-29717078	GM12878	blood:	n/a	n/a
25	IRF3	chr6:29716765-29716965	GM12878	blood:	n/a	chr6:29716902-29716916
26	USF1	chr6:29716645-29717033	H1-hESC	embryonic stem cell:	n/a	chr6:29716825-29716836
27	RUNX3	chr6:29716544-29717085	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:29716544-29717044	GM12878	blood:	n/a	n/a
29	TAF1	chr6:29716590-29717166	HepG2	liver:	n/a	n/a
30	ELK1	chr6:29716640-29717175	Hela-S3	cervix:	n/a	n/a
31	SP1	chr6:29716605-29717082	GM12878	blood:	n/a	chr6:29716899-29716913 chr6:29716903-29716912 chr6:29716835-29716844 chr6:29716904-29716913 chr6:29716834-29716845 chr6:29716902-29716914 chr6:29716903-29716913 chr6:29716902-29716914
32	IRF3	chr6:29716718-29716979	Hela-S3	cervix:	n/a	chr6:29716902-29716916
33	USF1	chr6:29716684-29717091	H1-hESC	embryonic stem cell:	n/a	chr6:29716825-29716836
34	PBX3	chr6:29716563-29717066	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr6:29716584-29717088	HCT-116	colon:	n/a	n/a
36	POLR2A	chr6:29716485-29717125	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr6:29716596-29717093	K562	blood:	n/a	n/a
38	MAFK	chr6:29716889-29716902	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:29716549-29717233	HEK293	kidney:	n/a	n/a
40	MXI1	chr6:29716445-29716908	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr6:29716590-29717117	HCT-116	colon:	n/a	n/a
42	ELF1	chr6:29716627-29717048	K562	blood:	n/a	chr6:29716630-29716642 chr6:29716999-29717008
43	SIN3A	chr6:29715713-29717573	H1-hESC	embryonic stem cell:	n/a	chr6:29717251-29717262 chr6:29717074-29717085
44	ZNF143	chr6:29716431-29717044	GM12878	blood:	n/a	chr6:29716963-29716981
45	POLR2A	chr6:29716565-29717335	Raji	blood:	n/a	n/a
46	E2F6	chr6:29716612-29716952	A549	lung:	n/a	chr6:29716885-29716894 chr6:29716642-29716651
47	POLR2A	chr6:29716518-29716994	K562	blood:	n/a	n/a
48	CHD2	chr6:29716593-29717065	GM12878	blood:	n/a	n/a
49	USF1	chr6:29716717-29716965	A549	lung:	n/a	chr6:29716825-29716836
50	SP1	chr6:29716630-29717020	H1-hESC	embryonic stem cell:	n/a	chr6:29716899-29716913 chr6:29716903-29716912 chr6:29716835-29716844 chr6:29716904-29716913 chr6:29716834-29716845 chr6:29716902-29716914 chr6:29716903-29716913 chr6:29716902-29716914

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29716851-29716901	CMK	blood:	n/a
2	chr6:29716851-29716901	SK-N-SH_RA	brain:	n/a
3	chr6:29716851-29716901	AG09309	skin:	n/a
4	chr6:29716851-29716901	NHDF-neo	bronchial:	n/a
5	chr6:29716851-29716901	Hela-S3	cervix:	n/a
6	chr6:29716851-29716901	K562	blood:	n/a
7	chr6:29716851-29716901	HRPEpiC	eye:	n/a
8	chr6:29716851-29716901	HepG2	liver:	n/a
9	chr6:29716851-29716901	A549	lung:	n/a
10	chr6:29716851-29716901	HCT-116	colon:	n/a
11	chr6:29716851-29716901	GM12892	blood:	n/a
12	chr6:29716851-29716901	NHBE	bronchial:	n/a
13	chr6:29716851-29716901	HCM	heart:	n/a
14	chr6:29716851-29716901	Hepatocyte	liver:	n/a
15	chr6:29716851-29716901	ECC-1	luminal epithelium:	n/a
16	chr6:29716851-29716901	HCF	heart:	n/a
17	chr6:29716851-29716901	AG09319	gingival:	n/a
18	chr6:29716851-29716901	HRE	kidney:	n/a
19	chr6:29716851-29716901	HL-60	blood:	n/a
20	chr6:29716851-29716901	IMR90	lung:	fetal
21	chr6:29716851-29716901	H1-hESC	embryonic stem cell:	embryo
22	chr6:29716851-29716901	MCF-7	breast:	n/a
23	chr6:29716851-29716901	HMEC	breast:	n/a
24	chr6:29716851-29716901	MCF10A-Er-Src	breast:	n/a
25	chr6:29716851-29716901	GM12891	blood:	n/a
26	chr6:29716851-29716901	HEEpiC	esophagus:	n/a
27	chr6:29716851-29716901	PrEC	prostate:	n/a
28	chr6:29716851-29716901	HAEpiC	amniotic membrane:	n/a
29	chr6:29716851-29716901	AG04449	skin:	fetal
30	chr6:29716851-29716901	GM19239	blood:	n/a
31	chr6:29716851-29716901	BJ	skin:	n/a
32	chr6:29716851-29716901	ProgFib	skin:	n/a
33	chr6:29716851-29716901	SAEC	small airway:	n/a
34	chr6:29716851-29716901	AoSMC	blood vessel:	n/a
35	chr6:29716851-29716901	T-47D	breast:	n/a
36	chr6:29716851-29716901	SKMC	muscle:	n/a
37	chr6:29716851-29716901	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:29716851-29716901	AG10803	skin:	n/a
39	chr6:29716851-29716901	NH-A	brain:	n/a
40	chr6:29716851-29716901	PFSK-1	brain:	n/a
41	chr6:29716851-29716901	BE2_C	brain:	n/a
42	chr6:29716851-29716901	Caco-2	colon:	n/a
43	chr6:29716851-29716901	HEK293	kidney:	embryo
44	chr6:29716851-29716901	ovcar-3	ovarian:	n/a
45	chr6:29716851-29716901	HRCEpiC	kidney:	n/a
46	chr6:29716851-29716901	PANC-1	pancreas:	n/a
47	chr6:29716851-29716901	HIPEpiC	eye:	n/a
48	chr6:29716851-29716901	GM06990	blood:	n/a
49	chr6:29716851-29716901	U87	brain:	n/a
50	chr6:29716851-29716901	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29716316..29718223-chr6:29719581..29721724,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199290	TF binding region
MICE	TF binding region
HLA-F-AS1	TF binding region
ENSG00000199290	CpG island
MICE	CpG island
HLA-F-AS1	CpG island
ENSG00000272236	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1610624	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1611296	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1625695	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1633044	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633082	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633083	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633086	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1633087	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633090	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737076	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1737078	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1737082	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1737086	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713243	0.87[ASN][1000 genomes]
rs4947236	0.87[ASN][1000 genomes]
rs733839	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9258275	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883534	chr6:29708222-29724310	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29715200-29717200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29715400-29717400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:29715400-29717600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr6:29715400-29717800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr6:29715600-29717200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:29715600-29717200	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:29715600-29717400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:29715600-29718000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:29715800-29717000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:29715800-29717000	Active TSS	HMEC	breast
11	chr6:29715800-29717200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:29715800-29717200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:29715800-29717200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:29715800-29717200	Active TSS	A549	lung
15	chr6:29715800-29717200	Active TSS	HSMM	muscle
16	chr6:29715800-29717200	Active TSS	HSMMtube	muscle
17	chr6:29715800-29717200	Active TSS	NHLF	lung
18	chr6:29715800-29717200	Active TSS	Osteobl	bone
19	chr6:29715800-29717400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:29715800-29717400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:29715800-29717600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:29715800-29717600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr6:29715800-29717600	Bivalent/Poised TSS	Fetal Lung	lung
24	chr6:29716000-29717000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:29716000-29717000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:29716000-29717000	Bivalent/Poised TSS	Thymus	Thymus
27	chr6:29716000-29717200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:29716000-29717200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr6:29716000-29717200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:29716000-29717200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr6:29716000-29717200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:29716000-29717200	Active TSS	Aorta	Aorta
33	chr6:29716000-29717200	Active TSS	Colon Smooth Muscle	Colon
34	chr6:29716000-29717200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr6:29716000-29717200	Active TSS	Left Ventricle	heart
36	chr6:29716000-29717200	Active TSS	Lung	lung
37	chr6:29716000-29717200	Active TSS	Right Atrium	heart
38	chr6:29716000-29717200	Active TSS	K562	blood
39	chr6:29716000-29717200	Active TSS	NHDF-Ad	bronchial
40	chr6:29716000-29717400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr6:29716000-29717400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:29716000-29717400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:29716000-29717400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr6:29716000-29717400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr6:29716000-29717400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr6:29716000-29717400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr6:29716000-29717400	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr6:29716000-29717400	Flanking Active TSS	HUVEC	blood vessel
49	chr6:29716000-29717600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:29716000-29717600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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