Variant report

Variant	rs537061891
Chromosome Location	chr1:151811120-151811121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZEB1	chr1:151810943-151811452	GM12878	blood:	n/a	chr1:151811210-151811219
2	GABPA	chr1:151811092-151811451	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr1:151810662-151811226	GM12878	blood:	n/a	n/a
4	CTCF	chr1:151811040-151811190	GM12871	blood:	n/a	n/a
5	POLR2A	chr1:151810965-151813837	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZEB1	chr1:151811004-151811250	GM12878	blood:	n/a	chr1:151811210-151811219
7	BHLHE40	chr1:151810621-151811469	GM12878	blood:	n/a	n/a
8	BACH1	chr1:151811102-151811254	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr1:151811019-151811148	GM12878	blood:	n/a	n/a
10	MXI1	chr1:151810710-151811500	GM12878	blood:	n/a	n/a
11	TAF1	chr1:151811020-151811724	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr1:151810927-151811691	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr1:151810985-151811496	H1-hESC	embryonic stem cell:	n/a	n/a
14	EBF1	chr1:151810789-151811138	GM12878	blood:	n/a	n/a
15	CTBP2	chr1:151810458-151811711	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr1:151810916-151811663	H1-hESC	embryonic stem cell:	n/a	chr1:151811542-151811551
17	POLR2A	chr1:151811102-151811312	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr1:151810520-151811502	GM12878	blood:	n/a	n/a
19	MAX	chr1:151810349-151811698	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:151811110-151811687	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr1:151811119-151811446	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF3	chr1:151810626-151811361	GM12878	blood:	n/a	n/a
23	PAX5	chr1:151810927-151811321	GM12892	blood:	n/a	n/a
24	SIN3A	chr1:151810930-151812794	H1-hESC	embryonic stem cell:	n/a	chr1:151811550-151811563 chr1:151812644-151812657
25	E2F6	chr1:151810169-151812785	H1-hESC	embryonic stem cell:	n/a	chr1:151811992-151812003 chr1:151812264-151812273 chr1:151811542-151811551
26	ELF1	chr1:151810413-151811645	GM12878	blood:	n/a	n/a
27	RCOR1	chr1:151810815-151811230	GM12878	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
2	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
3	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
4	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
5	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
6	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
7	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
8	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
9	chr1:151810783..151812535-chr1:151860499..151863108,2	MCF-7	breast:
10	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
11	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
12	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
13	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
14	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
15	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
16	chr1:151811099..151812634-chr7:103621578..103623542,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000206980	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000143375	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
2	chr1:151805600-151811200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:151808800-151811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr1:151809200-151811200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151810000-151818800	Weak transcription	A549	lung
9	chr1:151810200-151811200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:151810200-151811200	Enhancers	Spleen	Spleen
11	chr1:151810200-151811600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:151810200-151812400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr1:151810200-151812600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:151810200-151812800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:151810400-151811400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr1:151810400-151811400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:151810400-151811400	Active TSS	Aorta	Aorta
18	chr1:151810400-151811400	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr1:151810400-151811600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:151810400-151811600	Weak transcription	NHEK	skin
21	chr1:151810400-151811800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:151810400-151812400	Weak transcription	Hela-S3	cervix
23	chr1:151810400-151812600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:151810400-151812600	Flanking Active TSS	Right Ventricle	heart
25	chr1:151810400-151812800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:151810400-151812800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:151810400-151812800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:151810400-151812800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr1:151810400-151813000	Active TSS	Brain Substantia Nigra	brain
33	chr1:151810600-151811200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:151810600-151811200	Active TSS	Primary T cells from cord blood	blood
35	chr1:151810600-151811200	Active TSS	Primary T cells fromperipheralblood	blood
36	chr1:151810600-151811200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr1:151810600-151811200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr1:151810600-151811200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:151810600-151811200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:151810600-151811200	Active TSS	Liver	Liver
41	chr1:151810600-151811200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:151810600-151811200	Bivalent/Poised TSS	HUVEC	blood vessel
43	chr1:151810600-151811200	Bivalent/Poised TSS	NHLF	lung
44	chr1:151810600-151811400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:151810600-151811400	Active TSS	Primary B cells from peripheral blood	blood
46	chr1:151810600-151811400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:151810600-151811400	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr1:151810600-151811400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:151810600-151811400	Active TSS	Brain Anterior Caudate	brain
50	chr1:151810600-151811400	Active TSS	Brain Inferior Temporal Lobe	brain

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