Variant report

Variant	rs182162213
Chromosome Location	chr6:71998222-71998223
allele	C/T
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	chr6:71998004-71999170	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:71998040-71998875	PANC-1	pancreas:	n/a	n/a
4	SIN3AK20	chr6:71998177-71998572	SK-N-SH	brain:	n/a	n/a
5	ZKSCAN1	chr6:71997903-71998646	Hela-S3	cervix:	n/a	n/a
6	E2F6	chr6:71997848-71998476	A549	lung:	n/a	chr6:71998384-71998394 chr6:71998318-71998327
7	RFX5	chr6:71997869-71998509	Hela-S3	cervix:	n/a	n/a
8	ZBTB7A	chr6:71997982-71998600	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr6:71997865-71998751	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:71997910-71998764	H1-neurons	neurons:	n/a	n/a
11	YY1	chr6:71997764-71998290	GM12878	blood:	n/a	n/a
12	FOXP2	chr6:71998024-71998682	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr6:71997669-71998764	HUVEC	blood vessel:	n/a	n/a
14	MAZ	chr6:71997858-71999980	IMR90	lung:	n/a	n/a
15	SIN3AK20	chr6:71997893-71999076	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr6:71997764-71999171	GM12878	blood:	n/a	n/a
17	CHD2	chr6:71997795-71998257	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:71997747-71999605	GM19099	blood:	n/a	n/a
19	MAX	chr6:71997808-71998758	NB4	blood:	n/a	n/a
20	POLR2A	chr6:71998222-71998764	GM12892	blood:	n/a	n/a
21	HA-E2F1	chr6:71997972-71999121	Hela-S3	cervix:	n/a	chr6:71998965-71998975 chr6:71998384-71998394 chr6:71998392-71998403 chr6:71998318-71998327
22	CHD2	chr6:71997852-71998706	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr6:71997641-71998711	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr6:71997883-71998750	HCT-116	colon:	n/a	n/a
25	POLR2A	chr6:71997837-71999136	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr6:71998100-71998250	SK-N-SH_RA	brain:	n/a	n/a
27	POLR2A	chr6:71997899-71998776	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:71997803-71999251	GM18526	blood:	n/a	n/a
29	ZNF263	chr6:71997455-71999152	HEK293-T-REx	kidney:	n/a	chr6:71998405-71998414 chr6:71997726-71997735
30	MAX	chr6:71997819-71998839	ECC-1	luminal epithelium:	n/a	n/a
31	MXI1	chr6:71997934-71998532	Hela-S3	cervix:	n/a	n/a
32	MXI1	chr6:71997749-71998704	GM12878	blood:	n/a	n/a
33	MAX	chr6:71997898-71998823	SK-N-SH	brain:	n/a	n/a
34	MYC	chr6:71998002-71998289	MCF-7	breast:	n/a	n/a
35	MAZ	chr6:71997822-71998676	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr6:71997768-71998658	GM12878	blood:	n/a	n/a
37	E2F6	chr6:71997962-71998695	H1-hESC	embryonic stem cell:	n/a	chr6:71998384-71998394 chr6:71998318-71998327
38	E2F4	chr6:71998059-71998479	MCF10A-Er-Src	breast:	n/a	chr6:71998384-71998394 chr6:71998318-71998327
39	REST	chr6:71997824-71998826	H1-neurons	neurons:	n/a	chr6:71998068-71998086 chr6:71998391-71998401 chr6:71998071-71998084 chr6:71998154-71998172 chr6:71998067-71998087
40	TCF7L2	chr6:71997884-71998395	Hela-S3	cervix:	n/a	n/a
41	TAF1	chr6:71998158-71998735	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr6:71997843-71998931	Gliobla	brain:	n/a	n/a
43	MYC	chr6:71997815-71998740	NB4	blood:	n/a	n/a
44	POLR2A	chr6:71997845-71999411	GM18951	blood:	n/a	n/a
45	POLR2A	chr6:71998084-71999115	Hela-S3	cervix:	n/a	n/a
46	MXI1	chr6:71998046-71998741	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:71998191-71998812	HCT-116	colon:	n/a	n/a
48	E2F6	chr6:71997896-71998646	H1-hESC	embryonic stem cell:	n/a	chr6:71998384-71998394 chr6:71998318-71998327
49	MAX	chr6:71997807-71998780	Hela-S3	cervix:	n/a	n/a
50	SMC3	chr6:71997817-71998679	Hela-S3	cervix:	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
ENSG00000232295	TF binding region
OGFRL1	TF binding region
ENSG00000232295	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71997000-71998400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:71997000-71998400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:71997000-71999800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:71997000-72002000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr6:71997200-71998400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr6:71997200-71998400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:71997200-72000400	Active TSS	A549	lung
8	chr6:71997400-71998400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr6:71997400-71999400	Active TSS	Brain Anterior Caudate	brain
10	chr6:71997400-72000000	Active TSS	Rectal Smooth Muscle	rectum
11	chr6:71997400-72000400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:71997600-71998400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:71997600-71998600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:71997600-71999200	Active TSS	Fetal Brain Female	brain
15	chr6:71997600-71999400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:71997600-71999400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:71997600-71999600	Active TSS	Aorta	Aorta
18	chr6:71997600-72000000	Active TSS	Brain Germinal Matrix	brain
19	chr6:71997600-72000200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:71997600-72001400	Active TSS	Brain Substantia Nigra	brain
21	chr6:71997800-71998400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr6:71997800-71998400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:71997800-71998400	Flanking Active TSS	Colonic Mucosa	Colon
24	chr6:71997800-71998400	Active TSS	Fetal Lung	lung
25	chr6:71997800-71998400	Flanking Active TSS	Placenta	Placenta
26	chr6:71997800-71999200	Active TSS	Ovary	ovary
27	chr6:71997800-71999400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:71997800-71999400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:71997800-71999400	Active TSS	Esophagus	oesophagus
30	chr6:71997800-71999400	Active TSS	Left Ventricle	heart
31	chr6:71997800-71999400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr6:71997800-71999400	Active TSS	Psoas Muscle	Psoas
33	chr6:71997800-71999400	Active TSS	Right Atrium	heart
34	chr6:71997800-71999600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:71997800-71999600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:71997800-71999600	Active TSS	HSMM	muscle
37	chr6:71997800-71999800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:71997800-71999800	Active TSS	Brain Hippocampus Middle	brain
39	chr6:71997800-71999800	Active TSS	Right Ventricle	heart
40	chr6:71997800-72000800	Active TSS	HSMMtube	muscle
41	chr6:71997800-72002000	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:71997800-72003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:71998000-71998400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:71998000-71998400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:71998000-71998400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:71998000-71998400	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr6:71998000-71999000	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr6:71998000-71999200	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr6:71998000-71999200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:71998000-71999200	Active TSS	Adipose Nuclei	Adipose

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