Variant report

Variant	rs561056076
Chromosome Location	chr1:155656477-155656478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155656131-155659454	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:155656315-155656747	Hela-S3	cervix:	n/a	n/a
3	WRNIP1	chr1:155656198-155656495	GM12878	blood:	n/a	n/a
4	HEY1	chr1:155656279-155656869	K562	blood:	n/a	n/a
5	POLR2A	chr1:155656332-155659469	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:155656320-155660418	GM12892	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155621509..155623036-chr1:155655478..155657409,2	K562	blood:
2	chr1:155644991..155647996-chr1:155653884..155656777,3	MCF-7	breast:
3	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
4	chr1:155649129..155651594-chr1:155654278..155656624,2	MCF-7	breast:
5	chr1:155649685..155651482-chr1:155656249..155657899,2	MCF-7	breast:

No data

Variant related genes	Relation type
DAP3	TF binding region
ENSG00000163374	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	chr1:155645200-155657200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:155646600-155657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:155648600-155657200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:155650000-155657400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:155650000-155657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:155650200-155656800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:155650200-155657400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:155650400-155657200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:155650800-155657400	Weak transcription	Placenta	Placenta
12	chr1:155653000-155656600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:155653000-155656600	Enhancers	Brain Angular Gyrus	brain
14	chr1:155653200-155656600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:155653200-155656800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:155653800-155656600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:155653800-155657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:155654000-155657400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:155654000-155657400	Weak transcription	Esophagus	oesophagus
20	chr1:155654000-155657600	Weak transcription	Small Intestine	intestine
21	chr1:155654600-155656600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:155654600-155656600	Enhancers	Liver	Liver
23	chr1:155654600-155657600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:155655000-155656600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:155655000-155656800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:155655000-155657000	Enhancers	Brain Substantia Nigra	brain
27	chr1:155655200-155656600	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:155655200-155656600	Enhancers	Fetal Stomach	stomach
29	chr1:155655400-155659600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:155655600-155656600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:155655600-155657200	Enhancers	Primary B cells from cord blood	blood
32	chr1:155655800-155656600	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:155656000-155656600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:155656000-155656600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:155656000-155656600	Enhancers	Pancreas	Pancrea
36	chr1:155656000-155656600	Enhancers	Spleen	Spleen
37	chr1:155656200-155656600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:155656200-155656600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:155656200-155656600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:155656200-155656600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr1:155656200-155656600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr1:155656200-155656600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:155656200-155656600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:155656200-155656600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:155656200-155656600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:155656200-155656600	Enhancers	Aorta	Aorta
47	chr1:155656200-155656600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr1:155656200-155656600	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr1:155656200-155656600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr1:155656200-155656600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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