Variant report

Variant	rs546110366
Chromosome Location	chr6:71998412-71998413
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	POLR2A	chr6:71997957-71998662	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:71998343-71998675	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:71998320-71998683	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr6:71998380-71998530	HCT-116	colon:	n/a	chr6:71998393-71998406
5	PAX5	chr6:71998343-71998614	GM12878	blood:	n/a	chr6:71998547-71998556 chr6:71998522-71998531
6	CTCF	chr6:71998340-71998490	GM12866	blood:	n/a	chr6:71998393-71998406 chr6:71998368-71998377
7	POLR2A	chr6:71998004-71999170	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:71998040-71998875	PANC-1	pancreas:	n/a	n/a
9	RAD21	chr6:71998364-71998639	HepG2	liver:	n/a	chr6:71998393-71998407
10	RAD21	chr6:71998354-71998673	SK-N-SH_RA	brain:	n/a	chr6:71998393-71998407
11	SIN3AK20	chr6:71998177-71998572	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr6:71998400-71998614	ProgFib	skin:	n/a	n/a
13	CTCF	chr6:71998281-71998749	GM12878	blood:	n/a	chr6:71998393-71998406 chr6:71998368-71998377
14	ZKSCAN1	chr6:71997903-71998646	Hela-S3	cervix:	n/a	n/a
15	E2F6	chr6:71997848-71998476	A549	lung:	n/a	chr6:71998384-71998394 chr6:71998318-71998327
16	CTCF	chr6:71998340-71998490	GM12875	blood:	n/a	chr6:71998393-71998406 chr6:71998368-71998377
17	CTCF	chr6:71998391-71998681	GM19238	blood:	n/a	chr6:71998393-71998406
18	RFX5	chr6:71997869-71998509	Hela-S3	cervix:	n/a	n/a
19	ZBTB7A	chr6:71997982-71998600	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr6:71998341-71998732	HepG2	liver:	n/a	n/a
21	CTCF	chr6:71998391-71998638	GM12892	blood:	n/a	chr6:71998393-71998406
22	MAX	chr6:71997865-71998751	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:71997910-71998764	H1-neurons	neurons:	n/a	n/a
24	FOXP2	chr6:71998024-71998682	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr6:71997669-71998764	HUVEC	blood vessel:	n/a	n/a
26	MAZ	chr6:71997858-71999980	IMR90	lung:	n/a	n/a
27	POLR2A	chr6:71998343-71998790	HepG2	liver:	n/a	n/a
28	SIN3AK20	chr6:71997893-71999076	PANC-1	pancreas:	n/a	n/a
29	CTCF	chr6:71998409-71998650	GM10266	blood:	n/a	n/a
30	POLR2A	chr6:71997764-71999171	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:71997747-71999605	GM19099	blood:	n/a	n/a
32	MAX	chr6:71997808-71998758	NB4	blood:	n/a	n/a
33	POLR2A	chr6:71998222-71998764	GM12892	blood:	n/a	n/a
34	JUND	chr6:71998331-71998747	A549	lung:	n/a	chr6:71998517-71998526
35	RAD21	chr6:71998278-71998676	SK-N-SH_RA	brain:	n/a	chr6:71998393-71998407
36	BACH1	chr6:71998373-71998481	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr6:71998278-71998654	HCT-116	colon:	n/a	chr6:71998549-71998563 chr6:71998554-71998563
38	HA-E2F1	chr6:71997972-71999121	Hela-S3	cervix:	n/a	chr6:71998965-71998975 chr6:71998384-71998394 chr6:71998392-71998403 chr6:71998318-71998327
39	CHD2	chr6:71997852-71998706	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr6:71998404-71998641	GM19239	blood:	n/a	n/a
41	TAF1	chr6:71998266-71999149	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr6:71998400-71998550	AG10803	skin:	n/a	n/a
43	POLR2A	chr6:71997641-71998711	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr6:71998407-71998701	A549	lung:	n/a	n/a
45	CTCF	chr6:71998400-71998550	GM12870	blood:	n/a	n/a
46	CTCF	chr6:71998380-71998530	AoAF	blood vessel:	n/a	chr6:71998393-71998406
47	CTCF	chr6:71998391-71998672	T-47D	breast:	n/a	chr6:71998393-71998406
48	MYC	chr6:71998376-71998676	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr6:71997883-71998750	HCT-116	colon:	n/a	n/a
50	CTCF	chr6:71998380-71998530	WERI-Rb-1	eye:	n/a	chr6:71998393-71998406

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:71998385-71998435	HEEpiC	esophagus:	n/a
2	chr6:71998398-71998448	Hepatocyte	liver:	n/a
3	chr6:71998398-71998448	CMK	blood:	n/a
4	chr6:71998398-71998448	AG09309	skin:	n/a
5	chr6:71998398-71998448	HRPEpiC	eye:	n/a
6	chr6:71998398-71998448	K562	blood:	n/a
7	chr6:71998398-71998448	HUVEC	blood vessel:	n/a
8	chr6:71998398-71998448	PrEC	prostate:	n/a
9	chr6:71998385-71998435	BE2_C	brain:	n/a
10	chr6:71998398-71998448	NT2-D1	testis:	n/a
11	chr6:71998398-71998448	HCPEpiC	choroid plexus:	n/a
12	chr6:71998398-71998448	GM19239	blood:	n/a
13	chr6:71998398-71998448	HCM	heart:	n/a
14	chr6:71998385-71998435	HNPCEpiC	eye:	n/a
15	chr6:71998398-71998448	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:71998385-71998435	Caco-2	colon:	n/a
17	chr6:71998398-71998448	MCF-7	breast:	n/a
18	chr6:71998385-71998435	HepG2	liver:	n/a
19	chr6:71998398-71998448	U87	brain:	n/a
20	chr6:71998385-71998435	AG09309	skin:	n/a
21	chr6:71998398-71998448	NHDF-neo	bronchial:	n/a
22	chr6:71998398-71998448	GM12878	blood:	n/a
23	chr6:71998398-71998448	GM06990	blood:	n/a
24	chr6:71998398-71998448	HRE	kidney:	n/a
25	chr6:71998398-71998448	HL-60	blood:	n/a
26	chr6:71998385-71998435	HRE	kidney:	n/a
27	chr6:71998385-71998435	GM12891	blood:	n/a
28	chr6:71998385-71998435	PrEC	prostate:	n/a
29	chr6:71998385-71998435	T-47D	breast:	n/a
30	chr6:71998385-71998435	HCT-116	colon:	n/a
31	chr6:71998398-71998448	HEEpiC	esophagus:	n/a
32	chr6:71998398-71998448	Hela-S3	cervix:	n/a
33	chr6:71998398-71998448	HMEC	breast:	n/a
34	chr6:71998398-71998448	Jurkat	blood:	n/a
35	chr6:71998385-71998435	RPTEC	kidney:	n/a
36	chr6:71998398-71998448	MCF10A-Er-Src	breast:	n/a
37	chr6:71998398-71998448	AG09319	gingival:	n/a
38	chr6:71998398-71998448	RPTEC	kidney:	n/a
39	chr6:71998398-71998448	NH-A	brain:	n/a
40	chr6:71998385-71998435	NB4	blood:	n/a
41	chr6:71998385-71998435	HMEC	breast:	n/a
42	chr6:71998385-71998435	GM06990	blood:	n/a
43	chr6:71998385-71998435	AG04449	skin:	fetal
44	chr6:71998398-71998448	IMR90	lung:	fetal
45	chr6:71998385-71998435	ovcar-3	ovarian:	n/a
46	chr6:71998385-71998435	ProgFib	skin:	n/a
47	chr6:71998385-71998435	AG04450	lung:	fetal
48	chr6:71998385-71998435	NHDF-neo	bronchial:	n/a
49	chr6:71998398-71998448	Caco-2	colon:	n/a
50	chr6:71998385-71998435	SKMC	muscle:	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
ENSG00000232295	TF binding region
OGFRL1	TF binding region
ENSG00000232295	CpG island
OGFRL1	CpG island
ENSG00000232295	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

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	chr6:71997600-71998600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:71997600-71999200	Active TSS	Fetal Brain Female	brain
9	chr6:71997600-71999400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:71997600-71999400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:71997600-71999600	Active TSS	Aorta	Aorta
12	chr6:71997600-72000000	Active TSS	Brain Germinal Matrix	brain
13	chr6:71997600-72000200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:71997600-72001400	Active TSS	Brain Substantia Nigra	brain
15	chr6:71997800-71999200	Active TSS	Ovary	ovary
16	chr6:71997800-71999400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:71997800-71999400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:71997800-71999400	Active TSS	Esophagus	oesophagus
19	chr6:71997800-71999400	Active TSS	Left Ventricle	heart
20	chr6:71997800-71999400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr6:71997800-71999400	Active TSS	Psoas Muscle	Psoas
22	chr6:71997800-71999400	Active TSS	Right Atrium	heart
23	chr6:71997800-71999600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr6:71997800-71999600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:71997800-71999600	Active TSS	HSMM	muscle
26	chr6:71997800-71999800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:71997800-71999800	Active TSS	Brain Hippocampus Middle	brain
28	chr6:71997800-71999800	Active TSS	Right Ventricle	heart
29	chr6:71997800-72000800	Active TSS	HSMMtube	muscle
30	chr6:71997800-72002000	Active TSS	Brain Cingulate Gyrus	brain
31	chr6:71997800-72003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr6:71998000-71999000	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr6:71998000-71999200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:71998000-71999200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:71998000-71999200	Active TSS	Adipose Nuclei	Adipose
36	chr6:71998000-71999200	Active TSS	Duodenum Mucosa	Duodenum
37	chr6:71998000-71999200	Active TSS	Gastric	stomach
38	chr6:71998000-71999200	Active TSS	Osteobl	bone
39	chr6:71998000-71999400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:71998000-71999400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr6:71998000-71999400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr6:71998000-71999400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:71998000-71999400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:71998000-71999400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:71998000-71999400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr6:71998000-71999400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr6:71998000-71999400	Active TSS	Fetal Intestine Small	intestine
48	chr6:71998000-71999400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr6:71998000-71999400	Active TSS	Thymus	Thymus
50	chr6:71998000-71999400	Active TSS	Hela-S3	cervix

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