Variant report

Variant	rs368898772
Chromosome Location	chr1:151810605-151810606
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151810552-151810801	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr1:151810384-151810903	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr1:151810372-151810888	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:151810530-151811078	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr1:151810458-151811711	H1-hESC	embryonic stem cell:	n/a	n/a
6	PAX5	chr1:151810576-151810909	GM12892	blood:	n/a	n/a
7	MAX	chr1:151810520-151811502	GM12878	blood:	n/a	n/a
8	MAX	chr1:151810349-151811698	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr1:151810169-151812785	H1-hESC	embryonic stem cell:	n/a	chr1:151811992-151812003 chr1:151812264-151812273 chr1:151811542-151811551
10	ELF1	chr1:151810413-151811645	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151810586-151810636	HCPEpiC	choroid plexus:	n/a
2	chr1:151810589-151810639	A549	lung:	n/a
3	chr1:151810589-151810639	GM06990	blood:	n/a
4	chr1:151810589-151810639	MCF10A-Er-Src	breast:	n/a
5	chr1:151810589-151810639	ovcar-3	ovarian:	n/a
6	chr1:151810586-151810636	HepG2	liver:	n/a
7	chr1:151810586-151810636	HL-60	blood:	n/a
8	chr1:151810586-151810636	AoSMC	blood vessel:	n/a
9	chr1:151810586-151810636	AG04450	lung:	fetal
10	chr1:151810586-151810636	Jurkat	blood:	n/a
11	chr1:151810586-151810636	IMR90	lung:	fetal
12	chr1:151810586-151810636	NH-A	brain:	n/a
13	chr1:151810589-151810639	RPTEC	kidney:	n/a
14	chr1:151810586-151810636	U87	brain:	n/a
15	chr1:151810586-151810636	HRCEpiC	kidney:	n/a
16	chr1:151810589-151810639	HRCEpiC	kidney:	n/a
17	chr1:151810589-151810639	NH-A	brain:	n/a
18	chr1:151810586-151810636	GM06990	blood:	n/a
19	chr1:151810586-151810636	SK-N-MC	brain:	n/a
20	chr1:151810589-151810639	HCT-116	colon:	n/a
21	chr1:151810589-151810639	GM12892	blood:	n/a
22	chr1:151810586-151810636	GM19239	blood:	n/a
23	chr1:151810586-151810636	Hela-S3	cervix:	n/a
24	chr1:151810586-151810636	HRE	kidney:	n/a
25	chr1:151810589-151810639	AG09309	skin:	n/a
26	chr1:151810589-151810639	NHBE	bronchial:	n/a
27	chr1:151810589-151810639	Hepatocyte	liver:	n/a
28	chr1:151810586-151810636	NHDF-neo	bronchial:	n/a
29	chr1:151810586-151810636	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:151810589-151810639	CMK	blood:	n/a
31	chr1:151810589-151810639	Hela-S3	cervix:	n/a
32	chr1:151810586-151810636	HNPCEpiC	eye:	n/a
33	chr1:151810589-151810639	ProgFib	skin:	n/a
34	chr1:151810586-151810636	PANC-1	pancreas:	n/a
35	chr1:151810586-151810636	HCF	heart:	n/a
36	chr1:151810586-151810636	ECC-1	luminal epithelium:	n/a
37	chr1:151810589-151810639	AoSMC	blood vessel:	n/a
38	chr1:151810589-151810639	HL-60	blood:	n/a
39	chr1:151810589-151810639	GM12891	blood:	n/a
40	chr1:151810586-151810636	GM12878	blood:	n/a
41	chr1:151810589-151810639	HEEpiC	esophagus:	n/a
42	chr1:151810586-151810636	NT2-D1	testis:	n/a
43	chr1:151810589-151810639	NB4	blood:	n/a
44	chr1:151810589-151810639	SKMC	muscle:	n/a
45	chr1:151810589-151810639	HCM	heart:	n/a
46	chr1:151810589-151810639	SK-N-SH	brain:	n/a
47	chr1:151810586-151810636	HCM	heart:	n/a
48	chr1:151810586-151810636	BJ	skin:	n/a
49	chr1:151810589-151810639	U87	brain:	n/a
50	chr1:151810586-151810636	PFSK-1	brain:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
2	chr1:151735784..151737318-chr1:151808411..151810675,2	MCF-7	breast:
3	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
4	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
5	chr1:19410890..19413871-chr1:151808457..151811077,2	MCF-7	breast:
6	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
7	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
8	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
9	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
10	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
11	chr1:151809368..151811108-chr1:151856031..151858705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000234614	CpG island
ENSG00000143367	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000206980	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360539	chr1:151809753-151812301	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151802800-151811000	Enhancers	Placenta	Placenta
2	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
3	chr1:151805600-151811200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:151806200-151811000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:151807000-151810800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:151808400-151810800	Enhancers	HMEC	breast
8	chr1:151808800-151810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:151808800-151810800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:151808800-151811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr1:151809200-151810800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:151809200-151811200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:151809600-151810800	Bivalent Enhancer	Primary B cells from cord blood	blood
15	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:151809800-151810800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr1:151810000-151811000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:151810000-151818800	Weak transcription	A549	lung
19	chr1:151810200-151810800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:151810200-151810800	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr1:151810200-151811000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:151810200-151811200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:151810200-151811200	Enhancers	Spleen	Spleen
24	chr1:151810200-151811600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:151810200-151812400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
26	chr1:151810200-151812600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:151810200-151812800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:151810400-151810800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:151810400-151810800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:151810400-151810800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
31	chr1:151810400-151810800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:151810400-151810800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
33	chr1:151810400-151810800	Enhancers	Esophagus	oesophagus
34	chr1:151810400-151810800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr1:151810400-151810800	Bivalent Enhancer	Left Ventricle	heart
36	chr1:151810400-151810800	Enhancers	Lung	lung
37	chr1:151810400-151811000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr1:151810400-151811000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:151810400-151811400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr1:151810400-151811400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:151810400-151811400	Active TSS	Aorta	Aorta
42	chr1:151810400-151811400	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr1:151810400-151811600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:151810400-151811600	Weak transcription	NHEK	skin
45	chr1:151810400-151811800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:151810400-151812400	Weak transcription	Hela-S3	cervix
47	chr1:151810400-151812600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:151810400-151812600	Flanking Active TSS	Right Ventricle	heart
49	chr1:151810400-151812800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:151810400-151812800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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