Variant report

Variant	rs566899679
Chromosome Location	chr1:155656884-155656885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 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	chr1:155656332-155659469	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:155656320-155660418	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:155621509..155623036-chr1:155655478..155657409,2	K562	blood:
2	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
3	chr1:155656761..155658571-chr1:155822378..155824933,2	K562	blood:
4	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
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
ENSG00000116539	Chromatin interaction
ENSG00000116580	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000235919	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	chr1:155650200-155657400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:155650400-155657200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:155650800-155657400	Weak transcription	Placenta	Placenta
11	chr1:155653800-155657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:155654000-155657400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:155654000-155657400	Weak transcription	Esophagus	oesophagus
14	chr1:155654000-155657600	Weak transcription	Small Intestine	intestine
15	chr1:155654600-155657600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:155655000-155657000	Enhancers	Brain Substantia Nigra	brain
17	chr1:155655400-155659600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:155655600-155657200	Enhancers	Primary B cells from cord blood	blood
19	chr1:155656200-155657000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:155656200-155657200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:155656200-155657600	Weak transcription	Lung	lung
22	chr1:155656200-155657800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:155656200-155659800	Active TSS	HSMMtube	muscle
24	chr1:155656200-155659800	Active TSS	NHDF-Ad	bronchial
25	chr1:155656200-155660000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:155656200-155660200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:155656400-155657200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:155656400-155657400	Weak transcription	Gastric	stomach
29	chr1:155656400-155657600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:155656400-155657800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:155656400-155658200	Active TSS	Right Atrium	heart
32	chr1:155656400-155659200	Active TSS	Primary T cells from cord blood	blood
33	chr1:155656400-155659200	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr1:155656400-155659400	Active TSS	Ovary	ovary
35	chr1:155656400-155659600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:155656400-155659800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:155656400-155659800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:155656400-155659800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:155656400-155659800	Active TSS	Thymus	Thymus
40	chr1:155656400-155659800	Active TSS	GM12878-XiMat	blood
41	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
42	chr1:155656400-155660200	Active TSS	HSMM	muscle
43	chr1:155656400-155660200	Active TSS	NHLF	lung
44	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:155656600-155657000	Active TSS	Colon Smooth Muscle	Colon
46	chr1:155656600-155657000	Flanking Active TSS	Dnd41	blood
47	chr1:155656600-155657200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:155656600-155657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:155656600-155657200	Weak transcription	Fetal Intestine Large	intestine
50	chr1:155656600-155657200	Weak transcription	Rectal Mucosa Donor 31	rectum

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