Variant report

Variant	rs11692016
Chromosome Location	chr2:63278594-63278595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr2:63276459-63278866	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:63277031-63278621	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr2:63277124-63278770	K562	blood:	n/a	n/a
4	ZBTB7A	chr2:63278283-63278716	K562	blood:	n/a	n/a
5	POLR2A	chr2:63276523-63278657	K562	blood:	n/a	n/a
6	SUZ12	chr2:63277910-63287527	NT2-D1	testis:	n/a	n/a
7	ZBTB7A	chr2:63277823-63278744	ECC-1	luminal epithelium:	n/a	n/a
8	CTBP2	chr2:63277946-63286972	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZBTB7A	chr2:63277833-63278721	ECC-1	luminal epithelium:	n/a	n/a
10	SUZ12	chr2:63277954-63284194	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMARCB1	chr2:63277152-63278770	Hela-S3	cervix:	n/a	n/a
12	CCNT2	chr2:63278462-63278662	K562	blood:	n/a	n/a
13	ZBTB7A	chr2:63277984-63278731	K562	blood:	n/a	n/a
14	MAX	chr2:63276671-63278841	A549	lung:	n/a	n/a
15	HMGN3	chr2:63277303-63278615	K562	blood:	n/a	n/a
16	SIN3A	chr2:63277944-63278865	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZEB1	chr2:63277120-63278656	GM12878	blood:	n/a	n/a
18	E2F6	chr2:63277828-63278787	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr2:63276747-63278701	GM12878	blood:	n/a	n/a
20	ZBTB7A	chr2:63278008-63278669	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:63276391-63278674	HepG2	liver:	n/a	n/a
22	MAX	chr2:63276852-63278931	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EHBP1-1	chr2:63278384-63278939	NONHSAT071048

No data

Variant related genes	Relation type
ENSG00000231609	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13004408	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009267	1.00[ASN][1000 genomes]
rs34058424	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34834360	0.91[EUR][1000 genomes]
rs35508334	0.84[AMR][1000 genomes]
rs35698816	0.84[AMR][1000 genomes]
rs71422359	0.96[EUR][1000 genomes]
rs71422377	1.00[ASN][1000 genomes]
rs74181283	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv874233	chr2:63269604-63290449	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63272800-63279200	Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr2:63274200-63279400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr2:63274200-63279600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:63274400-63279000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:63274800-63278800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:63274800-63280200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:63275400-63278800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:63276000-63278800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:63276400-63278600	Active TSS	Pancreas	Pancrea
10	chr2:63276400-63279000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr2:63276600-63278600	Active TSS	HSMM	muscle
12	chr2:63276600-63279200	Active TSS	A549	lung
13	chr2:63276800-63278600	Active TSS	HSMMtube	muscle
14	chr2:63276800-63278800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:63276800-63278800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:63277000-63278600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:63277000-63278600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr2:63277000-63278600	Active TSS	Gastric	stomach
19	chr2:63277000-63278800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr2:63277000-63279000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:63277000-63279000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:63277000-63279000	Active TSS	NHEK	skin
23	chr2:63277000-63280600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:63277200-63278600	Active TSS	Brain Substantia Nigra	brain
25	chr2:63277200-63278600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr2:63277200-63278600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr2:63277200-63278600	Active TSS	K562	blood
28	chr2:63277200-63278800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:63277200-63278800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:63277200-63279000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr2:63277200-63279400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:63277200-63279400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:63277200-63279400	Active TSS	GM12878-XiMat	blood
34	chr2:63277200-63279600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
35	chr2:63277200-63279800	Active TSS	Hela-S3	cervix
36	chr2:63277400-63278600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:63277400-63278600	Active TSS	Esophagus	oesophagus
38	chr2:63277400-63278600	Bivalent/Poised TSS	Osteobl	bone
39	chr2:63277400-63278800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr2:63277400-63278800	Active TSS	HMEC	breast
41	chr2:63277400-63279000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:63277600-63278600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:63277600-63278600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr2:63277600-63281800	Bivalent/Poised TSS	NH-A	brain
45	chr2:63277800-63278600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:63277800-63278600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr2:63277800-63278600	Bivalent/Poised TSS	Colonic Mucosa	Colon
48	chr2:63277800-63278800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr2:63278000-63278600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
50	chr2:63278000-63278600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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