Variant report

Variant	rs2298265
Chromosome Location	chr1:151259043-151259044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151258565-151268148	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:151259037-151266673	K562	blood:	n/a	n/a
3	POLR2A	chr1:151258729-151266837	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:151258969-151260451	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:151258710-151264070	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:151258893-151264128	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:151258785-151264194	K562	blood:	n/a	n/a
8	POLR2A	chr1:151258999-151264207	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:151258842-151264110	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:151258964-151264093	GM12891	blood:	n/a	n/a
11	POLR2A	chr1:151258892-151259287	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:151258294-151264100	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:151253853..151259248-chr1:151295350..151301325,11	K562	blood:
2	chr1:151258574..151260250-chr1:151316879..151319085,2	MCF-7	breast:
3	1:151254384-151268403..1:151402394-151411623	GM12878	blood:
4	1:151171193-151178589..1:151254384-151268403	Hela-S3	cervix:
5	chr1:151257337..151259306-chr1:151293938..151295656,2	K562	blood:
6	chr1:151226153..151228488-chr1:151257371..151260075,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232671	TF binding region
ZNF687	TF binding region
ENSG00000159352	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000238711	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11204782	1.00[CHB][hapmap]
rs11577302	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11807526	0.85[CHB][hapmap]
rs12087892	0.85[CHB][hapmap]
rs12739070	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12739135	0.88[EUR][1000 genomes]
rs12743210	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1621016	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16833107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16865250	0.85[ASN][1000 genomes]
rs1752382	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1752388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1780586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1972348	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2769275	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35118469	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35485741	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35507974	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35778855	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35946639	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3748545	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59912932	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523731	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers 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	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151256000-151261000	Weak transcription	Fetal Kidney	kidney
2	chr1:151256000-151270600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:151256800-151261600	Weak transcription	Psoas Muscle	Psoas
4	chr1:151256800-151264600	Weak transcription	NHDF-Ad	bronchial
5	chr1:151256800-151268400	Strong transcription	NHEK	skin
6	chr1:151256800-151281400	Strong transcription	Fetal Stomach	stomach
7	chr1:151257000-151259600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:151257000-151259600	Strong transcription	Thymus	Thymus
9	chr1:151257000-151260600	Weak transcription	Stomach Mucosa	stomach
10	chr1:151257000-151261200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:151257000-151266400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:151257000-151266600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:151257000-151266600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:151257000-151267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151257000-151281200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:151257000-151281800	Weak transcription	Right Atrium	heart
17	chr1:151257200-151259400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:151257200-151259800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:151257200-151261800	Genic enhancers	Pancreas	Pancrea
20	chr1:151257200-151262800	Strong transcription	K562	blood
21	chr1:151257200-151266000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:151257200-151266400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:151257200-151270200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:151257200-151283000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:151257200-151297600	Strong transcription	Dnd41	blood
26	chr1:151257400-151259200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:151257400-151260200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:151257400-151261400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:151257400-151261400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr1:151257400-151261600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:151257400-151261800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:151257400-151261800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:151257400-151262200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:151257400-151263200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:151257400-151264000	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr1:151257400-151265000	Strong transcription	Fetal Thymus	thymus
37	chr1:151257400-151265800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:151257400-151266400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:151257400-151266400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:151257400-151267400	Weak transcription	Fetal Brain Male	brain
41	chr1:151257400-151272200	Strong transcription	HepG2	liver
42	chr1:151257400-151281200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:151257400-151281200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:151257400-151281800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:151257400-151282000	Strong transcription	Fetal Lung	lung
46	chr1:151257400-151282200	Strong transcription	Fetal Intestine Large	intestine
47	chr1:151257400-151282200	Strong transcription	Osteobl	bone
48	chr1:151257400-151283600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:151257600-151259800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:151257600-151260800	Strong transcription	Spleen	Spleen

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