Variant report

Variant	rs552081697
Chromosome Location	chr1:155657429-155657430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr1:155657217-155658041	GM12878	blood:	n/a	n/a
2	HEY1	chr1:155657296-155657958	K562	blood:	n/a	n/a
3	POLR2A	chr1:155657022-155659399	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:155657313-155659921	SK-N-MC	brain:	n/a	n/a
5	EP300	chr1:155657415-155657594	GM12878	blood:	n/a	n/a
6	POU2F2	chr1:155657229-155659302	GM12891	blood:	n/a	n/a
7	FOSL2	chr1:155657420-155657846	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:155656131-155659454	GM12878	blood:	n/a	n/a
9	POU2F2	chr1:155657218-155659223	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr1:155657357-155658010	HepG2	liver:	n/a	n/a
11	TCF12	chr1:155657392-155657786	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:155657249-155657495	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr1:155657416-155657927	GM12878	blood:	n/a	chr1:155657728-155657742 chr1:155657729-155657738 chr1:155657635-155657649
14	POLR2A	chr1:155657122-155659540	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:155656935-155659427	GM12892	blood:	n/a	n/a
16	NFIC	chr1:155657384-155659305	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:155657226-155659289	ProgFib	skin:	n/a	n/a
18	POLR2A	chr1:155657418-155657594	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:155657130-155659466	GM12891	blood:	n/a	n/a
20	RXRA	chr1:155657420-155657745	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:155657270-155659425	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:155657243-155659320	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:155657029-155659995	GM12892	blood:	n/a	n/a
24	POLR2A	chr1:155657372-155659550	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYBL2	chr1:155657063-155657864	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:155657296-155659536	HepG2	liver:	n/a	n/a
27	BCL11A	chr1:155657352-155657700	GM12878	blood:	n/a	n/a
28	HEY1	chr1:155656901-155659481	K562	blood:	n/a	n/a
29	PAX5	chr1:155657134-155658017	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:155657274-155659289	MCF-7	breast:	n/a	n/a
31	SP1	chr1:155657286-155657881	GM12878	blood:	n/a	chr1:155657728-155657742 chr1:155657729-155657738 chr1:155657635-155657649
32	POLR2A	chr1:155656959-155657893	GM12891	blood:	n/a	n/a
33	IRF4	chr1:155657180-155658111	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:155656955-155659480	GM12891	blood:	n/a	n/a
35	BATF	chr1:155657407-155657795	GM12878	blood:	n/a	n/a
36	POU2F2	chr1:155657330-155659223	GM12891	blood:	n/a	n/a
37	POLR2A	chr1:155657409-155659062	H1-hESC	embryonic stem cell:	n/a	n/a
38	FOXM1	chr1:155657304-155659376	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:155657223-155659295	GM12878	blood:	n/a	n/a
40	NR2F2	chr1:155657248-155659462	K562	blood:	n/a	n/a
41	POLR2A	chr1:155656332-155659469	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:155656320-155660418	GM12892	blood:	n/a	n/a
43	POLR2A	chr1:155657224-155659369	K562	blood:	n/a	n/a
44	POLR2A	chr1:155657243-155659342	Hela-S3	cervix:	n/a	n/a
45	TAF1	chr1:155657396-155659168	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
2	chr1:155656761..155658571-chr1:155822378..155824933,2	K562	blood:
3	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
4	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
5	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
6	chr1:155649685..155651482-chr1:155656249..155657899,2	MCF-7	breast:

No data

Variant related genes	Relation type
DAP3	TF binding region
ENSG00000163374	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
12	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv3054	chr1:155653835-155673509	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
14	nsv946421	chr1:155656230-155659076	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155627000-155657600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155634600-155657800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155646600-155657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:155650000-155657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:155654000-155657600	Weak transcription	Small Intestine	intestine
6	chr1:155654600-155657600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:155655400-155659600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:155656200-155657600	Weak transcription	Lung	lung
9	chr1:155656200-155657800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:155656200-155659800	Active TSS	HSMMtube	muscle
11	chr1:155656200-155659800	Active TSS	NHDF-Ad	bronchial
12	chr1:155656200-155660000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:155656200-155660200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:155656400-155657600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:155656400-155657800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:155656400-155658200	Active TSS	Right Atrium	heart
17	chr1:155656400-155659200	Active TSS	Primary T cells from cord blood	blood
18	chr1:155656400-155659200	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr1:155656400-155659400	Active TSS	Ovary	ovary
20	chr1:155656400-155659600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:155656400-155659800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:155656400-155659800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:155656400-155659800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:155656400-155659800	Active TSS	Thymus	Thymus
25	chr1:155656400-155659800	Active TSS	GM12878-XiMat	blood
26	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
27	chr1:155656400-155660200	Active TSS	HSMM	muscle
28	chr1:155656400-155660200	Active TSS	NHLF	lung
29	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr1:155656600-155657600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:155656600-155657600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:155656600-155657600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:155656600-155657600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:155656600-155657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:155656600-155657600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:155656600-155657600	Weak transcription	Fetal Heart	heart
37	chr1:155656600-155657600	Weak transcription	Fetal Thymus	thymus
38	chr1:155656600-155657600	Weak transcription	Psoas Muscle	Psoas
39	chr1:155656600-155657800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:155656600-155657800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:155656600-155657800	Weak transcription	Aorta	Aorta
42	chr1:155656600-155657800	Active TSS	Brain Germinal Matrix	brain
43	chr1:155656600-155657800	Active TSS	Fetal Brain Female	brain
44	chr1:155656600-155657800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:155656600-155657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:155656600-155657800	Weak transcription	Stomach Mucosa	stomach
47	chr1:155656600-155657800	Weak transcription	Spleen	Spleen
48	chr1:155656600-155657800	Active TSS	HepG2	liver
49	chr1:155656600-155658000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:155656600-155659200	Active TSS	Primary neutrophils fromperipheralblood	blood

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