Variant report

Variant	rs7904312
Chromosome Location	chr10:43332002-43332003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr10:43331906-43332972	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr10:43331952-43332700	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43331952-43332002	LNCaP	prostate:	n/a
2	chr10:43331952-43332002	NT2-D1	testis:	n/a
3	chr10:43331952-43332002	HRE	kidney:	n/a
4	chr10:43331952-43332002	GM06990	blood:	n/a
5	chr10:43331952-43332002	HNPCEpiC	eye:	n/a
6	chr10:43331952-43332002	NH-A	brain:	n/a
7	chr10:43331952-43332002	Hepatocyte	liver:	n/a
8	chr10:43331952-43332002	GM12891	blood:	n/a
9	chr10:43331952-43332002	PFSK-1	brain:	n/a
10	chr10:43331952-43332002	HIPEpiC	eye:	n/a
11	chr10:43331952-43332002	AG09319	gingival:	n/a
12	chr10:43331952-43332002	HRPEpiC	eye:	n/a
13	chr10:43331952-43332002	HRCEpiC	kidney:	n/a
14	chr10:43331952-43332002	AG04450	lung:	fetal
15	chr10:43331952-43332002	HL-60	blood:	n/a
16	chr10:43331952-43332002	AoSMC	blood vessel:	n/a
17	chr10:43331952-43332002	HPAEpiC	pulmonary alveolar:	n/a
18	chr10:43331952-43332002	CMK	blood:	n/a
19	chr10:43331952-43332002	SKMC	muscle:	n/a
20	chr10:43331952-43332002	SAEC	small airway:	n/a
21	chr10:43331952-43332002	SK-N-MC	brain:	n/a
22	chr10:43331952-43332002	A549	lung:	n/a
23	chr10:43331952-43332002	RPTEC	kidney:	n/a
24	chr10:43331952-43332002	MCF-7	breast:	n/a
25	chr10:43331952-43332002	GM12892	blood:	n/a
26	chr10:43331952-43332002	Caco-2	colon:	n/a
27	chr10:43331952-43332002	HCPEpiC	choroid plexus:	n/a
28	chr10:43331952-43332002	AG04449	skin:	fetal
29	chr10:43331952-43332002	HAEpiC	amniotic membrane:	n/a
30	chr10:43331952-43332002	PANC-1	pancreas:	n/a
31	chr10:43331952-43332002	H1-hESC	embryonic stem cell:	embryo
32	chr10:43331952-43332002	HepG2	liver:	n/a
33	chr10:43331952-43332002	HCM	heart:	n/a
34	chr10:43331952-43332002	BE2_C	brain:	n/a
35	chr10:43331952-43332002	SK-N-SH_RA	brain:	n/a
36	chr10:43331952-43332002	MCF10A-Er-Src	breast:	n/a
37	chr10:43331952-43332002	NB4	blood:	n/a
38	chr10:43331952-43332002	ovcar-3	ovarian:	n/a
39	chr10:43331952-43332002	ProgFib	skin:	n/a
40	chr10:43331952-43332002	HMEC	breast:	n/a
41	chr10:43331952-43332002	GM12878	blood:	n/a
42	chr10:43331952-43332002	HUVEC	blood vessel:	n/a
43	chr10:43331952-43332002	Jurkat	blood:	n/a
44	chr10:43331952-43332002	BJ	skin:	n/a
45	chr10:43331952-43332002	AG10803	skin:	n/a
46	chr10:43331952-43332002	U87	brain:	n/a
47	chr10:43331952-43332002	PrEC	prostate:	n/a
48	chr10:43331952-43332002	GM19239	blood:	n/a
49	chr10:43331952-43332002	NHBE	bronchial:	n/a
50	chr10:43331952-43332002	HCF	heart:	n/a

No data

Variant related genes	Relation type
RNU6-885P	TF binding region
RNU6-885P	CpG island

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1008751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10466247	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10793636	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10793638	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10900268	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10900271	0.82[EUR][1000 genomes]
rs10900273	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10900276	0.85[ASN][1000 genomes]
rs10900278	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10900279	0.91[ASN][1000 genomes]
rs10900280	0.91[ASN][1000 genomes]
rs11239763	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs11239766	0.83[JPT][hapmap]
rs11239781	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11239782	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11239784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11239785	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11239787	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12240444	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12241247	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12570118	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12570505	0.86[YRI][hapmap]
rs1539294	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1575039	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2142985	0.86[CHB][hapmap]
rs2419111	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34081555	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34109078	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34867211	0.91[ASN][1000 genomes]
rs35580408	0.91[ASN][1000 genomes]
rs3758514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3758516	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3982211	0.80[ASN][1000 genomes]
rs4379783	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4949033	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4949035	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs624804	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6593491	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6593492	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6593494	0.86[CHB][hapmap]
rs6593495	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6593498	0.89[ASN][1000 genomes]
rs6593499	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs7074877	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7080924	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7086238	0.86[CHB][hapmap]
rs7089449	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7091406	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7133	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7894010	0.86[ASN][1000 genomes]
rs7895163	0.83[ASN][1000 genomes]
rs7895230	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7901385	0.83[ASN][1000 genomes]
rs7909445	0.81[ASN][1000 genomes]
rs7922246	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7922559	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7923351	0.91[ASN][1000 genomes]
rs7923890	0.87[ASN][1000 genomes]
rs9326544	0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	esv14695	chr10:43301539-43355457	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv8627	chr10:43324929-43354934	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island miRNA target site	1 gene(s)	inside rSNPs	diseases
14	esv1842859	chr10:43327115-43334095	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
3	chr10:43314400-43332200	Weak transcription	Right Atrium	heart
4	chr10:43320000-43332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:43321400-43332800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:43321600-43332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:43323000-43332400	Weak transcription	Psoas Muscle	Psoas
8	chr10:43323400-43332200	Weak transcription	Stomach Mucosa	stomach
9	chr10:43326400-43332200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:43326800-43332200	Weak transcription	Brain Anterior Caudate	brain
11	chr10:43326800-43332200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr10:43326800-43332200	Weak transcription	NHEK	skin
13	chr10:43326800-43332400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:43327200-43332200	Weak transcription	NH-A	brain
15	chr10:43327200-43332600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:43327200-43332800	Weak transcription	Spleen	Spleen
17	chr10:43327400-43332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:43327400-43332200	Weak transcription	Fetal Kidney	kidney
19	chr10:43327400-43332200	Weak transcription	HepG2	liver
20	chr10:43327400-43332200	Weak transcription	NHLF	lung
21	chr10:43327600-43332200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:43327600-43332200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr10:43327600-43332200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr10:43327600-43332200	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:43327600-43332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:43327600-43332400	Weak transcription	HSMM	muscle
27	chr10:43327600-43332800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr10:43327800-43332200	Weak transcription	Brain Hippocampus Middle	brain
29	chr10:43328000-43332200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:43328000-43332200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:43328000-43332200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr10:43328000-43332200	Weak transcription	Placenta	Placenta
33	chr10:43328000-43332200	Weak transcription	HMEC	breast
34	chr10:43328200-43332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:43328200-43332200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:43328200-43332200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr10:43328200-43332200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr10:43328200-43332200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:43328200-43332200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:43328200-43332200	Weak transcription	Liver	Liver
41	chr10:43328200-43332200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr10:43328200-43332200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:43328200-43332200	Weak transcription	Esophagus	oesophagus
44	chr10:43328200-43332200	Weak transcription	Lung	lung
45	chr10:43328200-43332200	Weak transcription	Ovary	ovary
46	chr10:43328200-43332200	Weak transcription	Pancreas	Pancrea
47	chr10:43328200-43332200	Weak transcription	Right Ventricle	heart
48	chr10:43328200-43332200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:43328200-43332200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr10:43328200-43332200	Weak transcription	Thymus	Thymus

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