Variant report

Variant	rs10410185
Chromosome Location	chr19:42795554-42795555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42795460-42795610	HFF-Myc	foreskin:	n/a	n/a
2	POLR2A	chr19:42795118-42795597	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:42794973-42796169	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:42795221-42795691	HepG2	liver:	n/a	n/a
5	CTCF	chr19:42794168-42796267	A549	lung:	n/a	chr19:42795920-42795928
6	POLR2A	chr19:42794908-42801736	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr19:42795025-42795607	GM12878	blood:	n/a	n/a
8	CTCF	chr19:42795460-42795610	NHEK	skin:	n/a	n/a
9	CTCF	chr19:42795540-42795690	BE2_C	brain:	n/a	n/a
10	POLR2A	chr19:42795510-42795796	HCT-116	colon:	n/a	n/a
11	POLR2A	chr19:42794937-42795583	GM12878	blood:	n/a	n/a
12	MAX	chr19:42794745-42795658	A549	lung:	n/a	n/a
13	POLR2A	chr19:42794882-42797816	K562	blood:	n/a	n/a
14	POLR2A	chr19:42794782-42796358	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr19:42794399-42798142	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr19:42794855-42795797	K562	blood:	n/a	n/a
17	POLR2A	chr19:42794986-42795956	K562	blood:	n/a	n/a
18	SIX5	chr19:42794796-42795555	A549	lung:	n/a	n/a
19	CTCF	chr19:42794760-42795682	HCT-116	colon:	n/a	n/a
20	POLR2A	chr19:42795122-42797717	HepG2	liver:	n/a	n/a
21	CTCF	chr19:42795460-42795610	HepG2	liver:	n/a	n/a
22	RAD21	chr19:42794886-42795563	A549	lung:	n/a	n/a
23	RAD21	chr19:42794871-42795605	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr19:42794851-42795556	MCF-7	breast:	n/a	n/a
25	PBX3	chr19:42794619-42795899	A549	lung:	n/a	n/a
26	POLR2A	chr19:42794916-42797620	K562	blood:	n/a	n/a
27	CTCF	chr19:42794926-42795556	HCT-116	colon:	n/a	n/a
28	POLR2A	chr19:42795157-42795938	GM12878	blood:	n/a	n/a
29	TCF12	chr19:42794691-42795882	A549	lung:	n/a	n/a
30	POLR2A	chr19:42795551-42795604	MCF-7	breast:	n/a	n/a
31	POLR2A	chr19:42795174-42795661	GM12892	blood:	n/a	n/a
32	POLR2A	chr19:42793952-42801695	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr19:42795255-42796269	HL-60	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42750436..42751367-chr19:42794842..42795672,4	MCF-7	breast:
2	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
3	chr19:42612405..42613325-chr19:42794536..42795840,5	MCF-7	breast:
4	chr19:42595218..42597830-chr19:42795165..42796711,2	K562	blood:
5	chr19:42795173..42796087-chr19:42804031..42804541,2	K562	blood:
6	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
7	chr19:42748926..42749498-chr19:42794812..42795673,2	MCF-7	breast:

No data

Variant related genes	Relation type
CIC	TF binding region
ENSG00000204957	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000105723	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10410198	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410698	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412833	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10426306	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426310	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11557114	0.91[ASN][1000 genomes]
rs11878620	0.82[CHB][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs11880124	0.82[CHB][hapmap]
rs11882654	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11883412	0.82[CHB][hapmap]
rs1206009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1206027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs1206028	0.85[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs1206029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs1206031	0.85[EUR][1000 genomes]
rs1206033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs1206035	0.89[EUR][1000 genomes]
rs1206038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs1206040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs1206041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs1206042	0.89[EUR][1000 genomes]
rs1206043	0.82[EUR][1000 genomes]
rs1206044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs1209280	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1211265	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13346991	0.89[EUR][1000 genomes]
rs1613100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs1654623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs1676211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs1676213	0.87[EUR][1000 genomes]
rs1676214	0.82[EUR][1000 genomes]
rs1676215	0.87[EUR][1000 genomes]
rs1676217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1676220	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1676221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs1676222	1.00[CHB][hapmap]
rs1685565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs16975684	0.82[CHB][hapmap]
rs2267630	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2302485	0.82[CHB][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs2303652	0.82[CHB][hapmap]
rs2537697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2615614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28537976	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621009	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs34922891	0.84[EUR][1000 genomes]
rs35493131	0.91[ASN][1000 genomes]
rs35557987	0.85[EUR][1000 genomes]
rs3745231	0.82[CHB][hapmap]
rs3745233	0.82[CHB][hapmap]
rs3810148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3810151	0.82[CHB][hapmap]
rs4141062	1.00[CHB][hapmap];0.80[MEX][hapmap];0.95[ASN][1000 genomes]
rs57938324	1.00[ASN][1000 genomes]
rs61995685	0.84[EUR][1000 genomes]
rs7248379	0.82[CHB][hapmap]
rs7255956	0.89[EUR][1000 genomes]
rs7258727	0.86[YRI][hapmap]
rs7258795	1.00[ASN][1000 genomes]
rs7260287	0.89[EUR][1000 genomes]
rs73552881	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73552895	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182491	0.82[CHB][hapmap]
rs851292	0.84[EUR][1000 genomes]
rs851293	0.84[EUR][1000 genomes]
rs851296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs851612	0.95[ASN][1000 genomes]
rs851615	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs862228	0.89[EUR][1000 genomes]
rs865436	0.89[EUR][1000 genomes]
rs9636121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
6	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
7	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
8	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
9	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
10	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
11	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42790200-42800200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:42790600-42797800	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr19:42790600-42801600	Strong transcription	Dnd41	blood
4	chr19:42790600-42802400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:42790600-42804600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:42790600-42804800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:42790600-42805000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:42790600-42805400	Weak transcription	Stomach Mucosa	stomach
9	chr19:42790600-42806000	Weak transcription	Psoas Muscle	Psoas
10	chr19:42790800-42799000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:42790800-42802000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:42790800-42802200	Strong transcription	Thymus	Thymus
13	chr19:42791000-42795800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr19:42791000-42796000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:42791000-42799200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:42791000-42799600	Strong transcription	HSMMtube	muscle
17	chr19:42791000-42799800	Strong transcription	Lung	lung
18	chr19:42791000-42800200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:42791000-42800200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:42791000-42801400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:42791000-42801600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr19:42791000-42801600	Strong transcription	NHLF	lung
23	chr19:42791000-42802800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:42791200-42796000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:42791200-42796200	Strong transcription	HUVEC	blood vessel
26	chr19:42791200-42796600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr19:42791200-42798600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:42791200-42799000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:42791200-42799000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:42791200-42799000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:42791200-42799000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:42791200-42799000	Strong transcription	Adipose Nuclei	Adipose
33	chr19:42791200-42799000	Strong transcription	Aorta	Aorta
34	chr19:42791200-42799200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr19:42791200-42799200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr19:42791200-42799400	Strong transcription	Primary T cells from cord blood	blood
37	chr19:42791200-42799400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:42791200-42799600	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:42791200-42799800	Strong transcription	Liver	Liver
40	chr19:42791200-42800000	Strong transcription	Spleen	Spleen
41	chr19:42791200-42800200	Strong transcription	GM12878-XiMat	blood
42	chr19:42791200-42800400	Strong transcription	Colon Smooth Muscle	Colon
43	chr19:42791200-42801400	Strong transcription	Osteobl	bone
44	chr19:42791200-42801600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:42791200-42804600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:42791200-42805800	Weak transcription	Fetal Heart	heart
47	chr19:42791200-42806000	Weak transcription	Right Atrium	heart
48	chr19:42791400-42795800	Strong transcription	Colonic Mucosa	Colon
49	chr19:42791400-42797600	Strong transcription	Fetal Lung	lung
50	chr19:42791400-42797800	Strong transcription	NH-A	brain

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