Variant report

Variant	rs8181328
Chromosome Location	chr10:58120848-58120849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:297)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:297 , 50 per page) page: 1 2 3 4 5 6

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	chr10:58120677-58121545	PANC-1	pancreas:	n/a	n/a
3	REST	chr10:58120740-58121762	HL-60	blood:	n/a	n/a
4	TAF1	chr10:58120686-58121462	PFSK-1	brain:	n/a	n/a
5	MYC	chr10:58120748-58121824	K562	blood:	n/a	n/a
6	POLR2A	chr10:58120696-58121621	HUVEC	blood vessel:	n/a	n/a
7	YY1	chr10:58120663-58121262	ECC-1	luminal epithelium:	n/a	chr10:58120989-58121001
8	POLR2A	chr10:58120653-58121424	MCF-7	breast:	n/a	n/a
9	POU2F2	chr10:58120749-58121172	GM12891	blood:	n/a	n/a
10	POLR2A	chr10:58120453-58121885	GM12892	blood:	n/a	n/a
11	CHD2	chr10:58120761-58121379	K562	blood:	n/a	n/a
12	POLR2A	chr10:58120155-58121896	GM19099	blood:	n/a	n/a
13	POLR2A	chr10:58120530-58121416	GM12892	blood:	n/a	n/a
14	JUND	chr10:58120721-58121821	K562	blood:	n/a	n/a
15	HA-E2F1	chr10:58120644-58121401	Hela-S3	cervix:	n/a	chr10:58121175-58121184 chr10:58121080-58121089 chr10:58121212-58121221
16	MXI1	chr10:58120500-58122080	SK-N-SH	brain:	n/a	n/a
17	HEY1	chr10:58120814-58121388	HepG2	liver:	n/a	chr10:58120920-58120935
18	POLR2A	chr10:58120817-58121491	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr10:58120674-58121442	GM12891	blood:	n/a	n/a
20	ZNF143	chr10:58120814-58121529	K562	blood:	n/a	chr10:58121021-58121040 chr10:58121069-58121079 chr10:58121024-58121039
21	ELF1	chr10:58120621-58121334	GM12878	blood:	n/a	chr10:58120920-58120932
22	SMC3	chr10:58120832-58121003	K562	blood:	n/a	n/a
23	STAT5A	chr10:58120709-58121517	GM12878	blood:	n/a	n/a
24	YY1	chr10:58120776-58121205	NT2-D1	testis:	n/a	chr10:58120989-58121001
25	RAD21	chr10:58120661-58121602	Hela-S3	cervix:	n/a	chr10:58120921-58120934
26	TAF1	chr10:58120540-58121760	ECC-1	luminal epithelium:	n/a	n/a
27	HMGN3	chr10:58120842-58121324	K562	blood:	n/a	n/a
28	POLR2A	chr10:58119390-58122767	GM12891	blood:	n/a	n/a
29	CHD2	chr10:58120751-58121522	H1-hESC	embryonic stem cell:	n/a	n/a
30	POU2F2	chr10:58120700-58121364	GM12878	blood:	n/a	n/a
31	SP1	chr10:58120824-58121397	H1-hESC	embryonic stem cell:	n/a	chr10:58121098-58121109
32	MAX	chr10:58120816-58121455	GM12878	blood:	n/a	n/a
33	REST	chr10:58120795-58121557	A549	lung:	n/a	n/a
34	MAX	chr10:58120682-58121587	A549	lung:	n/a	n/a
35	YY1	chr10:58120769-58121225	SK-N-SH_RA	brain:	n/a	chr10:58120989-58121001
36	MTA3	chr10:58120263-58121795	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:58120761-58121702	SK-N-SH	brain:	n/a	n/a
38	CCNT2	chr10:58120803-58121300	K562	blood:	n/a	n/a
39	TEAD4	chr10:58120704-58121279	K562	blood:	n/a	n/a
40	MYBL2	chr10:58120741-58121378	HepG2	liver:	n/a	n/a
41	MAZ	chr10:58120715-58121477	K562	blood:	n/a	n/a
42	POLR2A	chr10:58120589-58121647	U87	brain:	n/a	n/a
43	CBX3	chr10:58120809-58121444	K562	blood:	n/a	n/a
44	POLR2A	chr10:58119187-58121922	GM12878	blood:	n/a	n/a
45	ELF1	chr10:58120798-58121154	HepG2	liver:	n/a	chr10:58120920-58120932
46	RUNX3	chr10:58120604-58121491	GM12878	blood:	n/a	n/a
47	CREB1	chr10:58120665-58121407	HepG2	liver:	n/a	n/a
48	POLR2A	chr10:58120520-58121820	K562	blood:	n/a	n/a
49	YY1	chr10:58120791-58121100	GM12892	blood:	n/a	chr10:58120989-58121001
50	PAX5	chr10:58120748-58121322	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:58120841-58120891	HCT-116	colon:	n/a
2	chr10:58120841-58120891	AG09309	skin:	n/a
3	chr10:58120841-58120891	NH-A	brain:	n/a
4	chr10:58120841-58120891	SK-N-SH	brain:	n/a
5	chr10:58120841-58120891	ProgFib	skin:	n/a
6	chr10:58120841-58120891	HCM	heart:	n/a
7	chr10:58120841-58120891	NT2-D1	testis:	n/a
8	chr10:58120841-58120891	ECC-1	luminal epithelium:	n/a
9	chr10:58120841-58120891	AoSMC	blood vessel:	n/a
10	chr10:58120841-58120891	HepG2	liver:	n/a
11	chr10:58120841-58120891	Hela-S3	cervix:	n/a
12	chr10:58120841-58120891	MCF-7	breast:	n/a
13	chr10:58120841-58120891	HRPEpiC	eye:	n/a
14	chr10:58120841-58120891	SK-N-MC	brain:	n/a
15	chr10:58120841-58120891	HUVEC	blood vessel:	n/a
16	chr10:58120841-58120891	PrEC	prostate:	n/a
17	chr10:58120841-58120891	K562	blood:	n/a
18	chr10:58120841-58120891	H1-hESC	embryonic stem cell:	embryo
19	chr10:58120841-58120891	HL-60	blood:	n/a
20	chr10:58120841-58120891	MCF10A-Er-Src	breast:	n/a
21	chr10:58120841-58120891	PFSK-1	brain:	n/a
22	chr10:58120841-58120891	AG09319	gingival:	n/a
23	chr10:58120841-58120891	Jurkat	blood:	n/a
24	chr10:58120841-58120891	HEEpiC	esophagus:	n/a
25	chr10:58120841-58120891	GM19239	blood:	n/a
26	chr10:58120841-58120891	HRCEpiC	kidney:	n/a
27	chr10:58120841-58120891	HCPEpiC	choroid plexus:	n/a
28	chr10:58120841-58120891	A549	lung:	n/a
29	chr10:58120841-58120891	HNPCEpiC	eye:	n/a
30	chr10:58120841-58120891	SAEC	small airway:	n/a
31	chr10:58120841-58120891	GM12878	blood:	n/a
32	chr10:58120841-58120891	Hepatocyte	liver:	n/a
33	chr10:58120841-58120891	BJ	skin:	n/a
34	chr10:58120841-58120891	HRE	kidney:	n/a
35	chr10:58120841-58120891	RPTEC	kidney:	n/a
36	chr10:58120841-58120891	LNCaP	prostate:	n/a
37	chr10:58120841-58120891	PANC-1	pancreas:	n/a
38	chr10:58120841-58120891	HPAEpiC	pulmonary alveolar:	n/a
39	chr10:58120841-58120891	AG04450	lung:	fetal
40	chr10:58120841-58120891	HCF	heart:	n/a
41	chr10:58120841-58120891	GM12891	blood:	n/a
42	chr10:58120841-58120891	GM12892	blood:	n/a
43	chr10:58120841-58120891	HAEpiC	amniotic membrane:	n/a
44	chr10:58120841-58120891	IMR90	lung:	fetal
45	chr10:58120841-58120891	Caco-2	colon:	n/a
46	chr10:58120841-58120891	NHBE	bronchial:	n/a
47	chr10:58120841-58120891	SK-N-SH_RA	brain:	n/a
48	chr10:58120841-58120891	AG04449	skin:	fetal
49	chr10:58120841-58120891	GM06990	blood:	n/a
50	chr10:58120841-58120891	CMK	blood:	n/a

No data

Variant related genes	Relation type
ZWINT	TF binding region
ZWINT	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11005328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11005329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11005331	1.00[ASN][1000 genomes]
rs11005339	0.96[ASN][1000 genomes]
rs16908662	0.87[ASN][1000 genomes]
rs16908699	0.87[ASN][1000 genomes]
rs16908804	0.94[ASN][1000 genomes]
rs16908887	0.90[ASN][1000 genomes]
rs2893686	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4281417	0.83[ASN][1000 genomes]
rs7086907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7098709	0.87[ASN][1000 genomes]
rs7895638	0.87[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58119800-58122000	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr10:58119800-58122000	Active TSS	NHLF	lung
3	chr10:58120000-58121000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:58120000-58121000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:58120000-58121000	Flanking Active TSS	Fetal Muscle Trunk	muscle
6	chr10:58120000-58121600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:58120000-58122000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr10:58120000-58122000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:58120000-58122000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:58120000-58122000	Active TSS	Fetal Kidney	kidney
11	chr10:58120000-58122000	Active TSS	Rectal Smooth Muscle	rectum
12	chr10:58120000-58122400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:58120000-58122400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr10:58120200-58121000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr10:58120200-58121000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:58120200-58121000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr10:58120200-58121000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr10:58120200-58121600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr10:58120200-58122000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr10:58120200-58122000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:58120200-58122000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:58120200-58122000	Active TSS	A549	lung
23	chr10:58120200-58122000	Active TSS	NHDF-Ad	bronchial
24	chr10:58120200-58122200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr10:58120200-58122400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:58120200-58122400	Active TSS	GM12878-XiMat	blood
27	chr10:58120200-58122800	Active TSS	K562	blood
28	chr10:58120400-58121000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr10:58120400-58121000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr10:58120400-58121000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr10:58120400-58121000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr10:58120400-58121000	Flanking Active TSS	Liver	Liver
33	chr10:58120400-58121000	Flanking Active TSS	Psoas Muscle	Psoas
34	chr10:58120400-58121800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr10:58120400-58121800	Active TSS	Brain Cingulate Gyrus	brain
36	chr10:58120400-58121800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr10:58120400-58121800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr10:58120400-58122000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:58120400-58122000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:58120400-58122000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:58120400-58122000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:58120400-58122000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:58120400-58122000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:58120400-58122000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:58120400-58122000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:58120400-58122000	Active TSS	Brain Substantia Nigra	brain
47	chr10:58120400-58122000	Active TSS	Colonic Mucosa	Colon
48	chr10:58120400-58122000	Active TSS	Fetal Intestine Small	intestine
49	chr10:58120400-58122000	Active TSS	Fetal Lung	lung
50	chr10:58120400-58122000	Active TSS	Placenta Amnion	Placenta Amnion

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