Variant report

Variant	rs4144610
Chromosome Location	chr10:58120588-58120589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:58120501-58122418	GM18505	blood:	n/a	n/a
2	POLR2A	chr10:58120453-58121885	GM12892	blood:	n/a	n/a
3	POLR2A	chr10:58120155-58121896	GM19099	blood:	n/a	n/a
4	POLR2A	chr10:58120530-58121416	GM12892	blood:	n/a	n/a
5	MXI1	chr10:58120500-58122080	SK-N-SH	brain:	n/a	n/a
6	TAF1	chr10:58120540-58121760	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr10:58119390-58122767	GM12891	blood:	n/a	n/a
8	MTA3	chr10:58120263-58121795	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:58119187-58121922	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:58120520-58121820	K562	blood:	n/a	n/a
11	POLR2A	chr10:58120510-58121625	GM18526	blood:	n/a	n/a
12	POLR2A	chr10:58120548-58121733	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr10:58120566-58121501	GM12892	blood:	n/a	n/a
14	TAF1	chr10:58120454-58121690	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr10:58120533-58121670	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr10:58119354-58122168	K562	blood:	n/a	n/a
17	HEY1	chr10:58120527-58121497	K562	blood:	n/a	chr10:58120920-58120935
18	POLR2A	chr10:58120583-58121603	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr10:58120000-58121622	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F4	chr10:58120523-58121455	Hela-S3	cervix:	n/a	chr10:58121175-58121184 chr10:58121080-58121089 chr10:58121061-58121072 chr10:58121212-58121221
21	E2F4	chr10:58119703-58121680	MCF10A-Er-Src	breast:	n/a	chr10:58121175-58121184 chr10:58121080-58121089 chr10:58121061-58121072 chr10:58121212-58121221
22	POLR2A	chr10:58119294-58121931	K562	blood:	n/a	n/a
23	POLR2A	chr10:58120276-58121480	HL-60	blood:	n/a	n/a
24	POLR2A	chr10:58120487-58121647	PBDE	blood:	n/a	n/a
25	E2F4	chr10:58120444-58121383	K562	blood:	n/a	chr10:58121175-58121184 chr10:58121080-58121089 chr10:58121061-58121072 chr10:58121212-58121221
26	POLR2A	chr10:58120063-58121671	K562	blood:	n/a	n/a
27	POLR2A	chr10:58120088-58121847	Raji	blood:	n/a	n/a
28	RELA	chr10:58120580-58121728	GM15510	blood:	n/a	n/a
29	ELF1	chr10:58120556-58121435	MCF-7	breast:	n/a	chr10:58120920-58120932
30	POLR2A	chr10:58120575-58121467	ECC-1	luminal epithelium:	n/a	n/a
31	HCFC1	chr10:58120516-58121629	Hela-S3	cervix:	n/a	n/a
32	WRNIP1	chr10:58120415-58121678	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:58120501-58121584	GM12892	blood:	n/a	n/a
34	POLR2A	chr10:58120464-58122012	HepG2	liver:	n/a	n/a
35	TCF12	chr10:58120584-58121620	A549	lung:	n/a	n/a
36	POLR2A	chr10:58120282-58121708	HepG2	liver:	n/a	n/a
37	POLR2A	chr10:58120424-58121875	MCF-7	breast:	n/a	n/a
38	POLR2A	chr10:58119271-58121552	Hela-S3	cervix:	n/a	n/a
39	TCF7L2	chr10:58120478-58121619	PANC-1	pancreas:	n/a	chr10:58121041-58121055 chr10:58121044-58121054
40	POLR2A	chr10:58120436-58121556	PFSK-1	brain:	n/a	n/a
41	RCOR1	chr10:58120538-58121651	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr10:58120479-58121455	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr10:58119496-58121459	GM19193	blood:	n/a	n/a
44	POLR2A	chr10:58120231-58121837	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr10:58120454-58121901	K562	blood:	n/a	n/a
46	YY1	chr10:58120586-58121271	H1-hESC	embryonic stem cell:	n/a	chr10:58120989-58121001
47	TBL1XR1	chr10:58120235-58121475	K562	blood:	n/a	n/a
48	POLR2A	chr10:58120510-58120683	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr10:58120204-58121731	K562	blood:	n/a	n/a
50	TCF12	chr10:58120534-58121406	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ZWINT	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12264132	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12571653	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12573140	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12769485	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17653747	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1993001	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35153828	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6481209	0.87[ASN][1000 genomes]
rs71492688	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752691	chr10:57738694-58541894	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831883	chr10:57947759-58139056	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv895503	chr10:58029209-58201703	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv895504	chr10:58029209-58230622	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1035842	chr10:58084841-58150135	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr10:58117600-58120800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr10:58119400-58120600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:58119400-58120600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:58119600-58120600	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr10:58119600-58120600	Flanking Active TSS	HepG2	liver
6	chr10:58119600-58120800	Flanking Active TSS	Fetal Brain Female	brain
7	chr10:58119800-58120600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr10:58119800-58120600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:58119800-58120600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:58119800-58120600	Enhancers	Lung	lung
11	chr10:58119800-58120600	Enhancers	Stomach Mucosa	stomach
12	chr10:58119800-58120600	Flanking Active TSS	HUVEC	blood vessel
13	chr10:58119800-58120800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:58119800-58120800	Flanking Active TSS	Fetal Thymus	thymus
15	chr10:58119800-58122000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr10:58119800-58122000	Active TSS	NHLF	lung
17	chr10:58120000-58120600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr10:58120000-58120600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:58120000-58120600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:58120000-58120600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr10:58120000-58120600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr10:58120000-58120600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:58120000-58120600	Flanking Active TSS	Fetal Heart	heart
24	chr10:58120000-58120600	Flanking Active TSS	Thymus	Thymus
25	chr10:58120000-58120600	Enhancers	Spleen	Spleen
26	chr10:58120000-58120600	Flanking Active TSS	NHEK	skin
27	chr10:58120000-58120800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr10:58120000-58120800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr10:58120000-58120800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:58120000-58120800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr10:58120000-58120800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr10:58120000-58120800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr10:58120000-58120800	Flanking Active TSS	Fetal Stomach	stomach
34	chr10:58120000-58120800	Enhancers	Small Intestine	intestine
35	chr10:58120000-58120800	Flanking Active TSS	NH-A	brain
36	chr10:58120000-58121000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:58120000-58121000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:58120000-58121000	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr10:58120000-58121600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:58120000-58122000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr10:58120000-58122000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr10:58120000-58122000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:58120000-58122000	Active TSS	Fetal Kidney	kidney
44	chr10:58120000-58122000	Active TSS	Rectal Smooth Muscle	rectum
45	chr10:58120000-58122400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:58120000-58122400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr10:58120200-58120600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:58120200-58120600	Enhancers	Primary B cells from peripheral blood	blood
49	chr10:58120200-58120600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:58120200-58120600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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