Variant report

Variant	rs3819173
Chromosome Location	chr11:93472570-93472571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:93470742-93472722	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:93469329-93475448	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:93470988-93472806	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:93470883-93475415	HCT-116	colon:	n/a	n/a
5	POLR2A	chr11:93472270-93473102	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:93471623-93475375	GM19099	blood:	n/a	n/a
7	CHD1	chr11:93472376-93475351	GM12878	blood:	n/a	chr11:93474702-93474711 chr11:93474437-93474447
8	POLR2A	chr11:93458130-93475423	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:93465161-93475401	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:93471612-93475305	SK-N-MC	brain:	n/a	n/a
11	USF2	chr11:93471826-93472604	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:93465505-93475492	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:93460849-93475367	GM18505	blood:	n/a	n/a
14	POLR2A	chr11:93460250-93475527	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:93469624-93475431	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:93471000-93475242	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:93459876-93475383	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:93469231-93475445	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr11:93466346-93475414	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:93472495-93472801	HepG2	liver:	n/a	n/a
21	HEY1	chr11:93472285-93472819	HepG2	liver:	n/a	n/a
22	GATA3	chr11:93472492-93472692	SH-SY5Y	brain:	n/a	n/a
23	POLR2A	chr11:93460023-93475421	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:93472300-93475117	HUVEC	blood vessel:	n/a	n/a
25	MAFK	chr11:93472372-93472744	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr11:93472474-93475177	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:93470422-93475330	K562	blood:	n/a	n/a
28	POLR2A	chr11:93472326-93475450	GM12892	blood:	n/a	n/a
29	TAF7	chr11:93471730-93475014	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:93460630-93475546	PFSK-1	brain:	n/a	n/a
31	SIN3A	chr11:93472525-93472583	GM12878	blood:	n/a	n/a
32	HEY1	chr11:93472308-93475444	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:93470252-93475435	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:93472570-93472612	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:93472449-93472669	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr11:93459823-93475456	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:93471815-93475055	A549	lung:	n/a	n/a
38	POLR2A	chr11:93472340-93472718	K562	blood:	n/a	n/a
39	BRCA1	chr11:93472565-93475496	Hela-S3	cervix:	n/a	chr11:93474702-93474711
40	POLR2A	chr11:93472516-93472610	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:93469412-93475274	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:93459661-93475348	K562	blood:	n/a	n/a
43	POLR2A	chr11:93470174-93475516	PANC-1	pancreas:	n/a	n/a
44	CHD1	chr11:93469865-93475272	H1-hESC	embryonic stem cell:	n/a	chr11:93474702-93474711 chr11:93474437-93474447
45	POLR2A	chr11:93471468-93475392	GM12892	blood:	n/a	n/a
46	POLR2A	chr11:93470851-93472817	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:93460770-93475249	K562	blood:	n/a	n/a
48	MYC	chr11:93472380-93472580	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:93471832-93472773	Hela-S3	cervix:	n/a	n/a
50	HCFC1	chr11:93470846-93475552	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93471347..93475237-chr11:93486063..93491649,6	K562	blood:
2	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
3	chr11:93472413..93474850-chr11:93477709..93480682,4	MCF-7	breast:
4	chr11:93472354..93474057-chr11:93524242..93526809,2	K562	blood:
5	chr11:93468490..93476714-chr11:93515963..93520210,25	MCF-7	breast:
6	chr11:93452361..93455098-chr11:93472021..93474456,2	MCF-7	breast:
7	chr11:93472363..93476142-chr11:93531511..93536193,5	K562	blood:
8	chr11:93429389..93432729-chr11:93472370..93474745,3	K562	blood:
9	chr11:93468648..93476533-chr11:93513626..93520226,41	K562	blood:
10	chr11:93372093..93374223-chr11:93472267..93473882,2	K562	blood:

No data

Variant related genes	Relation type
TAF1D	TF binding region
SNORA40	TF binding region
C11orf54	TF binding region
ENSG00000254911	Chromatin interaction
ENSG00000265292	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000199875	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000166004	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10741471	1.00[CHB][hapmap]
rs10765628	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10831085	1.00[CHB][hapmap]
rs11020477	1.00[CHB][hapmap]
rs11020493	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12278291	1.00[CHB][hapmap]
rs12279657	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs12293939	0.86[CHB][hapmap]
rs16919267	1.00[ASN][1000 genomes]
rs17174449	1.00[ASN][1000 genomes]
rs1784203	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1944100	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1944101	1.00[CHB][hapmap]
rs1954994	1.00[CHB][hapmap]
rs2155245	0.87[ASN][1000 genomes]
rs2155246	1.00[CHB][hapmap]
rs2155248	0.87[ASN][1000 genomes]
rs2186686	1.00[CHB][hapmap]
rs2276311	1.00[CHD][hapmap];0.85[JPT][hapmap]
rs2288505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2298706	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2298707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2434986	0.83[ASN][1000 genomes]
rs2509840	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3737461	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3802770	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3802771	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3802773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3802774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3802775	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4303196	0.87[ASN][1000 genomes]
rs4753097	1.00[CHB][hapmap]
rs4753488	1.00[CHB][hapmap]
rs59220317	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60264207	1.00[ASN][1000 genomes]
rs623510	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs630648	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs631116	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs643924	0.87[ASN][1000 genomes]
rs648162	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7115167	1.00[ASN][1000 genomes]
rs7129028	1.00[ASN][1000 genomes]
rs7926876	1.00[CHB][hapmap]
rs7929351	1.00[ASN][1000 genomes]
rs7930519	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs7933524	1.00[YRI][hapmap]
rs7937088	0.97[ASN][1000 genomes]
rs7937523	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7949850	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7951514	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93450600-93473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:93459400-93473000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:93466600-93472600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr11:93466600-93473400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:93468000-93473200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
6	chr11:93468000-93473600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:93468800-93473600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr11:93469000-93473200	Weak transcription	Lung	lung
9	chr11:93469200-93473000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:93469200-93473600	Transcr. at gene 5' and 3'	A549	lung
11	chr11:93469200-93473600	Transcr. at gene 5' and 3'	Osteobl	bone
12	chr11:93469200-93474000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
13	chr11:93469400-93472800	Transcr. at gene 5' and 3'	NH-A	brain
14	chr11:93469400-93473600	Transcr. at gene 5' and 3'	K562	blood
15	chr11:93469400-93474000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr11:93469400-93474400	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr11:93469800-93472600	Genic enhancers	Liver	Liver
18	chr11:93469800-93473000	Transcr. at gene 5' and 3'	HMEC	breast
19	chr11:93469800-93473200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:93469800-93473400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:93469800-93473400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:93470000-93473000	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr11:93470000-93473200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:93470200-93473000	Transcr. at gene 5' and 3'	Hela-S3	cervix
25	chr11:93470400-93472600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:93470400-93472600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
27	chr11:93470400-93473400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
28	chr11:93470400-93473400	Transcr. at gene 5' and 3'	NHEK	skin
29	chr11:93470400-93473600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
30	chr11:93470400-93473600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
31	chr11:93470400-93473800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
32	chr11:93470800-93473000	Enhancers	Fetal Heart	heart
33	chr11:93470800-93473800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
34	chr11:93470800-93475800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:93471000-93472800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:93471000-93472800	Genic enhancers	Fetal Lung	lung
37	chr11:93471000-93473600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
38	chr11:93471000-93474600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:93471200-93472600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:93471200-93472600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:93471200-93472800	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr11:93471200-93473200	Active TSS	Right Ventricle	heart
43	chr11:93471200-93474000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:93471400-93473000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
45	chr11:93471400-93473000	Genic enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:93471400-93473200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:93471600-93472600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:93471600-93472600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:93471600-93473600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
50	chr11:93471600-93474000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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