Variant report

Variant	rs1633083
Chromosome Location	chr6:29716589-29716590
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	MAZ	chr6:29716018-29717456	K562	blood:	n/a	chr6:29716903-29716913
2	POLR2A	chr6:29716531-29717127	ECC-1	luminal epithelium:	n/a	n/a
3	CCNT2	chr6:29716492-29717060	K562	blood:	n/a	chr6:29716836-29716845
4	POLR2A	chr6:29716427-29717193	MCF-7	breast:	n/a	n/a
5	MAZ	chr6:29716351-29717273	Hela-S3	cervix:	n/a	chr6:29716903-29716913
6	E2F6	chr6:29716422-29717102	A549	lung:	n/a	chr6:29716885-29716894 chr6:29716995-29717010 chr6:29716642-29716651 chr6:29717009-29717016
7	ZNF263	chr6:29715850-29716823	HEK293-T-REx	kidney:	n/a	chr6:29716015-29716036 chr6:29715958-29715967 chr6:29716063-29716084
8	POLR2A	chr6:29716455-29717230	GM12892	blood:	n/a	n/a
9	POLR2A	chr6:29716559-29717173	GM15510	blood:	n/a	n/a
10	CTCF	chr6:29716520-29716670	GM12874	blood:	n/a	n/a
11	ZNF143	chr6:29716507-29716684	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:29716473-29717834	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr6:29716484-29717143	MCF-7	breast:	n/a	n/a
14	TAF1	chr6:29716541-29717286	PFSK-1	brain:	n/a	n/a
15	ZBTB7A	chr6:29716536-29716696	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:29716517-29717127	ProgFib	skin:	n/a	n/a
17	POLR2A	chr6:29716334-29717147	Hela-S3	cervix:	n/a	n/a
18	BACH1	chr6:29716512-29716867	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr6:29716442-29717362	GM12878	blood:	n/a	chr6:29716630-29716642 chr6:29716999-29717008 chr6:29716577-29716589
20	RUNX3	chr6:29716544-29717085	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:29716544-29717044	GM12878	blood:	n/a	n/a
22	TAF1	chr6:29716577-29716860	PFSK-1	brain:	n/a	n/a
23	PBX3	chr6:29716563-29717066	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr6:29716584-29717088	HCT-116	colon:	n/a	n/a
25	POLR2A	chr6:29716485-29717125	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr6:29716549-29717233	HEK293	kidney:	n/a	n/a
27	MXI1	chr6:29716445-29716908	Hela-S3	cervix:	n/a	n/a
28	SIN3A	chr6:29715713-29717573	H1-hESC	embryonic stem cell:	n/a	chr6:29717251-29717262 chr6:29717074-29717085
29	ZNF143	chr6:29716431-29717044	GM12878	blood:	n/a	chr6:29716963-29716981
30	POLR2A	chr6:29716565-29717335	Raji	blood:	n/a	n/a
31	POLR2A	chr6:29716518-29716994	K562	blood:	n/a	n/a
32	POLR2A	chr6:29716509-29716862	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr6:29716433-29717362	HepG2	liver:	n/a	n/a
34	NFYA	chr6:29716456-29717097	K562	blood:	n/a	n/a
35	STAT5A	chr6:29716437-29716874	GM12878	blood:	n/a	n/a
36	HDAC2	chr6:29716506-29717131	HepG2	liver:	n/a	n/a
37	TBL1XR1	chr6:29716587-29716729	K562	blood:	n/a	n/a
38	POLR2A	chr6:29715691-29717474	K562	blood:	n/a	n/a
39	POLR2A	chr6:29716558-29717124	GM19193	blood:	n/a	n/a
40	POLR2A	chr6:29716305-29717152	PFSK-1	brain:	n/a	n/a
41	UBTF	chr6:29715887-29717338	K562	blood:	n/a	n/a
42	POLR2A	chr6:29716300-29717145	HUVEC	blood vessel:	n/a	n/a
43	RELA	chr6:29716550-29717846	GM15510	blood:	n/a	n/a
44	MAX	chr6:29716415-29716986	K562	blood:	n/a	chr6:29716903-29716913
45	POLR2A	chr6:29716574-29716967	U87	brain:	n/a	n/a
46	SP1	chr6:29716569-29717141	GM12878	blood:	n/a	chr6:29716899-29716913 chr6:29716903-29716912 chr6:29716835-29716844 chr6:29716904-29716913 chr6:29716834-29716845 chr6:29716577-29716586 chr6:29716902-29716914 chr6:29716903-29716913 chr6:29716902-29716914
47	CHD1	chr6:29716445-29716679	GM12878	blood:	n/a	n/a
48	MAX	chr6:29716179-29717075	ECC-1	luminal epithelium:	n/a	chr6:29716903-29716913
49	POLR2A	chr6:29716563-29717277	GM12878	blood:	n/a	n/a
50	NFYA	chr6:29716481-29717136	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29716554-29716604	SAEC	small airway:	n/a
2	chr6:29716554-29716604	HRE	kidney:	n/a
3	chr6:29716554-29716604	MCF-7	breast:	n/a
4	chr6:29716554-29716604	SKMC	muscle:	n/a
5	chr6:29716554-29716604	GM19239	blood:	n/a
6	chr6:29716568-29716618	MCF10A-Er-Src	breast:	n/a
7	chr6:29716541-29716591	T-47D	breast:	n/a
8	chr6:29716554-29716604	H1-hESC	embryonic stem cell:	embryo
9	chr6:29716568-29716618	IMR90	lung:	fetal
10	chr6:29716568-29716618	AG04449	skin:	fetal
11	chr6:29716554-29716604	AG10803	skin:	n/a
12	chr6:29716554-29716604	HIPEpiC	eye:	n/a
13	chr6:29716554-29716604	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:29716541-29716591	MCF10A-Er-Src	breast:	n/a
15	chr6:29716568-29716618	Jurkat	blood:	n/a
16	chr6:29716554-29716604	HEK293	kidney:	embryo
17	chr6:29716541-29716591	GM19239	blood:	n/a
18	chr6:29716568-29716618	GM12878	blood:	n/a
19	chr6:29716568-29716618	HCT-116	colon:	n/a
20	chr6:29716568-29716618	SK-N-SH	brain:	n/a
21	chr6:29716541-29716591	GM12891	blood:	n/a
22	chr6:29716541-29716591	PANC-1	pancreas:	n/a
23	chr6:29716541-29716591	ECC-1	luminal epithelium:	n/a
24	chr6:29716541-29716591	A549	lung:	n/a
25	chr6:29716568-29716618	NH-A	brain:	n/a
26	chr6:29716568-29716618	Caco-2	colon:	n/a
27	chr6:29716541-29716591	AG04450	lung:	fetal
28	chr6:29716554-29716604	NB4	blood:	n/a
29	chr6:29716568-29716618	HRPEpiC	eye:	n/a
30	chr6:29716568-29716618	PrEC	prostate:	n/a
31	chr6:29716541-29716591	HIPEpiC	eye:	n/a
32	chr6:29716541-29716591	AG10803	skin:	n/a
33	chr6:29716568-29716618	NHDF-neo	bronchial:	n/a
34	chr6:29716554-29716604	Hela-S3	cervix:	n/a
35	chr6:29716554-29716604	BJ	skin:	n/a
36	chr6:29716554-29716604	A549	lung:	n/a
37	chr6:29716554-29716604	HAEpiC	amniotic membrane:	n/a
38	chr6:29716568-29716618	AoSMC	blood vessel:	n/a
39	chr6:29716554-29716604	Jurkat	blood:	n/a
40	chr6:29716541-29716591	BJ	skin:	n/a
41	chr6:29716568-29716618	HPAEpiC	pulmonary alveolar:	n/a
42	chr6:29716568-29716618	HAEpiC	amniotic membrane:	n/a
43	chr6:29716554-29716604	Hepatocyte	liver:	n/a
44	chr6:29716554-29716604	AG04450	lung:	fetal
45	chr6:29716541-29716591	RPTEC	kidney:	n/a
46	chr6:29716568-29716618	AG09319	gingival:	n/a
47	chr6:29716554-29716604	HepG2	liver:	n/a
48	chr6:29716541-29716591	IMR90	lung:	fetal
49	chr6:29716568-29716618	HL-60	blood:	n/a
50	chr6:29716554-29716604	AG09309	skin:	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
ENSG00000199290	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	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1611296	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1625695	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1633044	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1633081	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633082	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1633086	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633087	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1633090	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1737076	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1737078	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1737082	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1737086	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4713243	0.83[ASN][1000 genomes]
rs4947236	0.83[ASN][1000 genomes]
rs733839	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9258275	0.81[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:125 , 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	chr6:29715600-29716600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr6:29715600-29716800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr6:29715600-29716800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr6:29715600-29716800	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr6:29715600-29717200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:29715600-29717200	Active TSS	Rectal Smooth Muscle	rectum
11	chr6:29715600-29717400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:29715600-29718000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:29715800-29716600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:29715800-29716600	Flanking Active TSS	Pancreas	Pancrea
15	chr6:29715800-29716600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
16	chr6:29715800-29716800	Flanking Active TSS	Colonic Mucosa	Colon
17	chr6:29715800-29716800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
18	chr6:29715800-29716800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:29715800-29717000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:29715800-29717000	Active TSS	HMEC	breast
21	chr6:29715800-29717200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:29715800-29717200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:29715800-29717200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:29715800-29717200	Active TSS	A549	lung
25	chr6:29715800-29717200	Active TSS	HSMM	muscle
26	chr6:29715800-29717200	Active TSS	HSMMtube	muscle
27	chr6:29715800-29717200	Active TSS	NHLF	lung
28	chr6:29715800-29717200	Active TSS	Osteobl	bone
29	chr6:29715800-29717400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:29715800-29717400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:29715800-29717600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:29715800-29717600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr6:29715800-29717600	Bivalent/Poised TSS	Fetal Lung	lung
34	chr6:29716000-29716600	Flanking Active TSS	Liver	Liver
35	chr6:29716000-29716600	Flanking Active TSS	Esophagus	oesophagus
36	chr6:29716000-29716600	Bivalent/Poised TSS	Stomach Mucosa	stomach
37	chr6:29716000-29716800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:29716000-29717000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:29716000-29717000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:29716000-29717000	Bivalent/Poised TSS	Thymus	Thymus
41	chr6:29716000-29717200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr6:29716000-29717200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:29716000-29717200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:29716000-29717200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr6:29716000-29717200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:29716000-29717200	Active TSS	Aorta	Aorta
47	chr6:29716000-29717200	Active TSS	Colon Smooth Muscle	Colon
48	chr6:29716000-29717200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:29716000-29717200	Active TSS	Left Ventricle	heart
50	chr6:29716000-29717200	Active TSS	Lung	lung

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