Variant report

Variant	rs184154842
Chromosome Location	chr6:71999386-71999387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:71997858-71999980	IMR90	lung:	n/a	n/a
2	FOXA2	chr6:71999368-71999546	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:71997747-71999605	GM19099	blood:	n/a	n/a
4	BRCA1	chr6:71999239-71999620	Hela-S3	cervix:	n/a	n/a
5	MAX	chr6:71998951-71999475	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:71997845-71999411	GM18951	blood:	n/a	n/a
7	MAZ	chr6:71998950-71999397	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:71997860-71999845	Hela-S3	cervix:	n/a	n/a
9	ZNF384	chr6:71999032-71999516	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:71997980-71999431	NB4	blood:	n/a	n/a
11	CHD1	chr6:71998606-71999437	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:71998200-72000065	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:71996908-71999723	Raji	blood:	n/a	n/a
14	MAX	chr6:71998989-71999483	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr6:71997758-71999716	SK-N-SH	brain:	n/a	chr6:71998393-71998406 chr6:71998368-71998377 chr6:71999230-71999238 chr6:71998968-71998981
16	MXI1	chr6:71997884-71999405	IMR90	lung:	n/a	n/a
17	MXI1	chr6:71997609-72000196	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr6:71997912-71999419	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:71999385-71999435	HRCEpiC	kidney:	n/a
2	chr6:71999385-71999435	NT2-D1	testis:	n/a
3	chr6:71999385-71999435	HRPEpiC	eye:	n/a
4	chr6:71999385-71999435	HepG2	liver:	n/a
5	chr6:71999385-71999435	BE2_C	brain:	n/a
6	chr6:71999385-71999435	AoSMC	blood vessel:	n/a
7	chr6:71999385-71999435	HAEpiC	amniotic membrane:	n/a
8	chr6:71999385-71999435	MCF10A-Er-Src	breast:	n/a
9	chr6:71999385-71999435	Caco-2	colon:	n/a
10	chr6:71999385-71999435	Jurkat	blood:	n/a
11	chr6:71999385-71999435	AG04449	skin:	fetal
12	chr6:71999385-71999435	SK-N-MC	brain:	n/a
13	chr6:71999385-71999435	HCT-116	colon:	n/a
14	chr6:71999385-71999435	BJ	skin:	n/a
15	chr6:71999385-71999435	IMR90	lung:	fetal
16	chr6:71999385-71999435	K562	blood:	n/a
17	chr6:71999385-71999435	LNCaP	prostate:	n/a
18	chr6:71999385-71999435	HEK293	kidney:	embryo
19	chr6:71999385-71999435	AG09309	skin:	n/a
20	chr6:71999385-71999435	A549	lung:	n/a
21	chr6:71999385-71999435	CMK	blood:	n/a
22	chr6:71999385-71999435	Hela-S3	cervix:	n/a
23	chr6:71999385-71999435	NB4	blood:	n/a
24	chr6:71999385-71999435	GM12878	blood:	n/a
25	chr6:71999385-71999435	SAEC	small airway:	n/a
26	chr6:71999385-71999435	AG09319	gingival:	n/a
27	chr6:71999385-71999435	GM19239	blood:	n/a
28	chr6:71999385-71999435	U87	brain:	n/a
29	chr6:71999385-71999435	PFSK-1	brain:	n/a
30	chr6:71999385-71999435	PANC-1	pancreas:	n/a
31	chr6:71999385-71999435	ProgFib	skin:	n/a
32	chr6:71999385-71999435	HUVEC	blood vessel:	n/a
33	chr6:71999385-71999435	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:71999385-71999435	GM06990	blood:	n/a
35	chr6:71999385-71999435	SK-N-SH_RA	brain:	n/a
36	chr6:71999385-71999435	H1-hESC	embryonic stem cell:	embryo
37	chr6:71999385-71999435	PrEC	prostate:	n/a
38	chr6:71999385-71999435	MCF-7	breast:	n/a
39	chr6:71999385-71999435	HEEpiC	esophagus:	n/a
40	chr6:71999385-71999435	NHBE	bronchial:	n/a
41	chr6:71999385-71999435	SK-N-SH	brain:	n/a
42	chr6:71999385-71999435	T-47D	breast:	n/a
43	chr6:71999385-71999435	HMEC	breast:	n/a
44	chr6:71999385-71999435	HCF	heart:	n/a
45	chr6:71999385-71999435	HRE	kidney:	n/a
46	chr6:71999385-71999435	HCPEpiC	choroid plexus:	n/a
47	chr6:71999385-71999435	HIPEpiC	eye:	n/a
48	chr6:71999385-71999435	GM12892	blood:	n/a
49	chr6:71999385-71999435	Hepatocyte	liver:	n/a
50	chr6:71999385-71999435	HL-60	blood:	n/a

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
OGFRL1	TF binding region
ENSG00000232295	TF binding region
ENSG00000232295	CpG island
OGFRL1	CpG island
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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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	chr6:71997600-71999400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:71997600-71999400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:71997600-71999600	Active TSS	Aorta	Aorta
10	chr6:71997600-72000000	Active TSS	Brain Germinal Matrix	brain
11	chr6:71997600-72000200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:71997600-72001400	Active TSS	Brain Substantia Nigra	brain
13	chr6:71997800-71999400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:71997800-71999400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:71997800-71999400	Active TSS	Esophagus	oesophagus
16	chr6:71997800-71999400	Active TSS	Left Ventricle	heart
17	chr6:71997800-71999400	Active TSS	Placenta Amnion	Placenta Amnion
18	chr6:71997800-71999400	Active TSS	Psoas Muscle	Psoas
19	chr6:71997800-71999400	Active TSS	Right Atrium	heart
20	chr6:71997800-71999600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:71997800-71999600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:71997800-71999600	Active TSS	HSMM	muscle
23	chr6:71997800-71999800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:71997800-71999800	Active TSS	Brain Hippocampus Middle	brain
25	chr6:71997800-71999800	Active TSS	Right Ventricle	heart
26	chr6:71997800-72000800	Active TSS	HSMMtube	muscle
27	chr6:71997800-72002000	Active TSS	Brain Cingulate Gyrus	brain
28	chr6:71997800-72003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:71998000-71999400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:71998000-71999400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:71998000-71999400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:71998000-71999400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:71998000-71999400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:71998000-71999400	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr6:71998000-71999400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr6:71998000-71999400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr6:71998000-71999400	Active TSS	Fetal Intestine Small	intestine
38	chr6:71998000-71999400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr6:71998000-71999400	Active TSS	Thymus	Thymus
40	chr6:71998000-71999400	Active TSS	Hela-S3	cervix
41	chr6:71998000-71999600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:71998000-71999600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:71998000-71999600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:71998000-71999600	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr6:71998000-71999600	Active TSS	NHLF	lung
46	chr6:71998000-71999800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:71998000-71999800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr6:71998000-71999800	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:71998000-71999800	Active TSS	Fetal Kidney	kidney
50	chr6:71998000-71999800	Active TSS	Small Intestine	intestine

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