Variant report

Variant	rs9636121
Chromosome Location	chr19:42779057-42779058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268643	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000204957	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10410185	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]
rs10410198	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410698	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412833	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10426306	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426310	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11557114	0.91[ASN][1000 genomes]
rs11878620	0.82[CHB][hapmap];0.91[ASN][1000 genomes]
rs11880124	0.82[CHB][hapmap]
rs11882654	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11883412	0.82[CHB][hapmap]
rs1206009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1206027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1206028	1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs1206029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]
rs1206031	0.80[EUR][1000 genomes]
rs1206033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap]
rs1206035	0.84[EUR][1000 genomes]
rs1206038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1206040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1206041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1206042	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1206044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1209280	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1211265	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13346991	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1613100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs1654623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs1676211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1676213	0.82[EUR][1000 genomes]
rs1676215	0.82[EUR][1000 genomes]
rs1676217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1676220	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1676221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1676222	1.00[CHB][hapmap]
rs1685565	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16975684	0.82[CHB][hapmap]
rs2267630	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2302485	0.82[CHB][hapmap];0.91[ASN][1000 genomes]
rs2303652	0.82[CHB][hapmap]
rs2537697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2615614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28537976	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621009	1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs35493131	0.91[ASN][1000 genomes]
rs35557987	0.80[EUR][1000 genomes]
rs3745231	0.82[CHB][hapmap]
rs3745233	0.82[CHB][hapmap]
rs3810148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3810151	0.82[CHB][hapmap]
rs4141062	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs57938324	1.00[ASN][1000 genomes]
rs7248379	0.82[CHB][hapmap]
rs7255956	0.84[EUR][1000 genomes]
rs7258795	1.00[ASN][1000 genomes]
rs7260287	0.84[EUR][1000 genomes]
rs73552881	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73552895	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182491	0.82[CHB][hapmap]
rs851296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs851612	0.95[ASN][1000 genomes]
rs851615	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs862228	0.84[EUR][1000 genomes]
rs865436	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers 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	60 gene(s)	inside rSNPs	diseases
6	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
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	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
13	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
14	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
15	esv1801251	chr19:42768288-42788467	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
16	esv1803455	chr19:42768288-42788467	Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
17	esv1803706	chr19:42768288-42788467	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
18	esv1801291	chr19:42772432-42788467	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
19	esv1801294	chr19:42772432-42788467	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
20	esv1801914	chr19:42772432-42788467	Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
21	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42774400-42783600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:42775400-42781400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:42775400-42781800	Weak transcription	Small Intestine	intestine
4	chr19:42775400-42782000	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr19:42775600-42779800	Strong transcription	NHLF	lung
6	chr19:42775600-42781400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:42775800-42779200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:42775800-42780200	Strong transcription	Colonic Mucosa	Colon
9	chr19:42775800-42780400	Strong transcription	Fetal Stomach	stomach
10	chr19:42775800-42780600	Weak transcription	Fetal Heart	heart
11	chr19:42775800-42780600	Genic enhancers	Spleen	Spleen
12	chr19:42775800-42781600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:42775800-42781800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:42775800-42782400	Weak transcription	Fetal Kidney	kidney
15	chr19:42775800-42783600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:42776000-42779200	Strong transcription	Primary T cells from cord blood	blood
17	chr19:42776000-42779200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:42776000-42779200	Strong transcription	Colon Smooth Muscle	Colon
19	chr19:42776000-42779200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr19:42776000-42779400	Strong transcription	Fetal Brain Female	brain
21	chr19:42776000-42779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:42776000-42779600	Strong transcription	Dnd41	blood
23	chr19:42776000-42780000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr19:42776000-42780200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr19:42776000-42780200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:42776000-42780800	Genic enhancers	Esophagus	oesophagus
27	chr19:42776000-42780800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:42776000-42781200	Weak transcription	Stomach Mucosa	stomach
29	chr19:42776000-42781600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr19:42776200-42779200	Strong transcription	Fetal Intestine Large	intestine
31	chr19:42776200-42779400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:42776200-42779400	Strong transcription	Ovary	ovary
33	chr19:42776200-42779400	Weak transcription	Right Atrium	heart
34	chr19:42776200-42780000	Weak transcription	Psoas Muscle	Psoas
35	chr19:42776200-42780800	Strong transcription	Aorta	Aorta
36	chr19:42776200-42781800	Strong transcription	Fetal Thymus	thymus
37	chr19:42776400-42779200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr19:42776400-42779200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:42776400-42779200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr19:42776400-42779200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr19:42776400-42779400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:42776400-42779400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:42776400-42779400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:42776400-42779400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:42776400-42779400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr19:42776400-42779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:42776400-42780800	Strong transcription	Fetal Intestine Small	intestine
48	chr19:42776400-42781400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr19:42776400-42782200	Genic enhancers	Pancreas	Pancrea
50	chr19:42776600-42779200	Strong transcription	Placenta Amnion	Placenta Amnion

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