Variant report

Variant	rs555871898
Chromosome Location	chr6:71998769-71998770
allele	C/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	POLR2A	chr6:71998004-71999170	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:71998740-71998890	AG04449	skin:	n/a	n/a
3	POLR2A	chr6:71998040-71998875	PANC-1	pancreas:	n/a	n/a
4	MAZ	chr6:71997858-71999980	IMR90	lung:	n/a	n/a
5	POLR2A	chr6:71998343-71998790	HepG2	liver:	n/a	n/a
6	SIN3AK20	chr6:71997893-71999076	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr6:71997764-71999171	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:71997747-71999605	GM19099	blood:	n/a	n/a
9	HA-E2F1	chr6:71997972-71999121	Hela-S3	cervix:	n/a	chr6:71998965-71998975 chr6:71998384-71998394 chr6:71998392-71998403 chr6:71998318-71998327
10	TAF1	chr6:71998266-71999149	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:71997837-71999136	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:71997899-71998776	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:71997803-71999251	GM18526	blood:	n/a	n/a
14	POLR2A	chr6:71998765-71999188	HUVEC	blood vessel:	n/a	n/a
15	ZNF263	chr6:71997455-71999152	HEK293-T-REx	kidney:	n/a	chr6:71998405-71998414 chr6:71997726-71997735
16	MAX	chr6:71997819-71998839	ECC-1	luminal epithelium:	n/a	n/a
17	YY1	chr6:71998293-71998836	GM12878	blood:	n/a	chr6:71998549-71998563 chr6:71998554-71998563
18	MAX	chr6:71997898-71998823	SK-N-SH	brain:	n/a	n/a
19	REST	chr6:71997824-71998826	H1-neurons	neurons:	n/a	chr6:71998068-71998086 chr6:71998391-71998401 chr6:71998071-71998084 chr6:71998154-71998172 chr6:71998067-71998087
20	YY1	chr6:71998262-71998800	ECC-1	luminal epithelium:	n/a	chr6:71998549-71998563 chr6:71998554-71998563
21	RAD21	chr6:71998317-71998849	H1-hESC	embryonic stem cell:	n/a	chr6:71998393-71998407
22	POLR2A	chr6:71997843-71998931	Gliobla	brain:	n/a	n/a
23	TBP	chr6:71998361-71999147	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:71997845-71999411	GM18951	blood:	n/a	n/a
25	POLR2A	chr6:71998084-71999115	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr6:71998191-71998812	HCT-116	colon:	n/a	n/a
27	MAX	chr6:71997807-71998780	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:71998542-71998774	SK-N-MC	brain:	n/a	n/a
29	MAX	chr6:71997811-71998808	A549	lung:	n/a	n/a
30	E2F1	chr6:71997807-71999100	Hela-S3	cervix:	n/a	chr6:71998965-71998975 chr6:71998384-71998394 chr6:71998392-71998403 chr6:71998318-71998327
31	POLR2A	chr6:71997860-71999845	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:71997809-71999236	MCF10A-Er-Src	breast:	n/a	n/a
33	YY1	chr6:71998246-71998841	HepG2	liver:	n/a	chr6:71998549-71998563 chr6:71998554-71998563
34	ZNF143	chr6:71997882-71999069	GM12878	blood:	n/a	chr6:71998324-71998342 chr6:71998399-71998417
35	POLR2A	chr6:71998201-71998985	GM12892	blood:	n/a	n/a
36	POLR2A	chr6:71997931-71999227	GM19193	blood:	n/a	n/a
37	POLR2A	chr6:71997728-71998905	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr6:71997948-71998786	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:71997942-71998933	ProgFib	skin:	n/a	n/a
40	POLR2A	chr6:71997980-71999431	NB4	blood:	n/a	n/a
41	SMARCB1	chr6:71997956-71999252	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:71998069-71998898	A549	lung:	n/a	n/a
43	CHD1	chr6:71998606-71999437	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr6:71998200-72000065	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr6:71996908-71999723	Raji	blood:	n/a	n/a
46	POLR2A	chr6:71997875-71998825	HL-60	blood:	n/a	n/a
47	POLR2A	chr6:71998002-71998833	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:71997758-71999716	SK-N-SH	brain:	n/a	chr6:71998393-71998406 chr6:71998368-71998377 chr6:71999230-71999238 chr6:71998968-71998981
49	MXI1	chr6:71997884-71999405	IMR90	lung:	n/a	n/a
50	MXI1	chr6:71997609-72000196	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71997812..71999868-chr6:72020711..72023495,2	MCF-7	breast:

Variant related genes	Relation type
OGFRL1	TF binding region
ENSG00000232295	TF binding region
ENSG00000232295	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1837685	chr6:71997278-71998880	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv1792197	chr6:71997278-71999404	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1818720	chr6:71997278-71999404	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1830597	chr6:71997278-71999404	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1795873	chr6:71997278-72005794	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1841286	chr6:71997278-72006512	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3424106	chr6:71997456-72000004	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3385640	chr6:71997681-71999879	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv13513	chr6:71998410-71999070	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1802752	chr6:71998480-72005794	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:71997000-71999800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:71997000-72002000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:71997200-72000400	Active TSS	A549	lung
4	chr6:71997400-71999400	Active TSS	Brain Anterior Caudate	brain
5	chr6:71997400-72000000	Active TSS	Rectal Smooth Muscle	rectum
6	chr6:71997400-72000400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:71997600-71999200	Active TSS	Fetal Brain Female	brain
8	chr6:71997600-71999400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:71997600-71999400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:71997600-71999600	Active TSS	Aorta	Aorta
11	chr6:71997600-72000000	Active TSS	Brain Germinal Matrix	brain
12	chr6:71997600-72000200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:71997600-72001400	Active TSS	Brain Substantia Nigra	brain
14	chr6:71997800-71999200	Active TSS	Ovary	ovary
15	chr6:71997800-71999400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:71997800-71999400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:71997800-71999400	Active TSS	Esophagus	oesophagus
18	chr6:71997800-71999400	Active TSS	Left Ventricle	heart
19	chr6:71997800-71999400	Active TSS	Placenta Amnion	Placenta Amnion
20	chr6:71997800-71999400	Active TSS	Psoas Muscle	Psoas
21	chr6:71997800-71999400	Active TSS	Right Atrium	heart
22	chr6:71997800-71999600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:71997800-71999600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:71997800-71999600	Active TSS	HSMM	muscle
25	chr6:71997800-71999800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:71997800-71999800	Active TSS	Brain Hippocampus Middle	brain
27	chr6:71997800-71999800	Active TSS	Right Ventricle	heart
28	chr6:71997800-72000800	Active TSS	HSMMtube	muscle
29	chr6:71997800-72002000	Active TSS	Brain Cingulate Gyrus	brain
30	chr6:71997800-72003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:71998000-71999000	Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr6:71998000-71999200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr6:71998000-71999200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:71998000-71999200	Active TSS	Adipose Nuclei	Adipose
35	chr6:71998000-71999200	Active TSS	Duodenum Mucosa	Duodenum
36	chr6:71998000-71999200	Active TSS	Gastric	stomach
37	chr6:71998000-71999200	Active TSS	Osteobl	bone
38	chr6:71998000-71999400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:71998000-71999400	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr6:71998000-71999400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:71998000-71999400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:71998000-71999400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:71998000-71999400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr6:71998000-71999400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr6:71998000-71999400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr6:71998000-71999400	Active TSS	Fetal Intestine Small	intestine
47	chr6:71998000-71999400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr6:71998000-71999400	Active TSS	Thymus	Thymus
49	chr6:71998000-71999400	Active TSS	Hela-S3	cervix
50	chr6:71998000-71999600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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