Variant report

Variant	rs74181148
Chromosome Location	chr19:19780757-19780758
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19779650..19782100-chr19:19976513..19978467,2	MCF-7	breast:
2	chr19:19779787..19782276-chr19:19989567..19991864,2	K562	blood:
3	chr19:19779981..19782160-chr19:19842451..19845691,3	MCF-7	breast:
4	chr19:19780471..19782017-chr19:19786498..19789488,2	K562	blood:
5	chr19:19779580..19781317-chr19:19788331..19791225,2	MCF-7	breast:
6	chr19:19772164..19776257-chr19:19777737..19781997,10	MCF-7	breast:
7	chr19:19779750..19782132-chr19:19785209..19787186,2	K562	blood:

Variant related genes	Relation type
ENSG00000105708	Chromatin interaction
ENSG00000181896	Chromatin interaction
ENSG00000256771	Chromatin interaction
ENSG00000105726	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10402516	0.84[ASN][1000 genomes]
rs10405234	0.82[ASN][1000 genomes]
rs10423311	0.82[ASN][1000 genomes]
rs11667828	0.82[ASN][1000 genomes]
rs11670710	0.99[ASN][1000 genomes]
rs12974308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976826	0.81[EUR][1000 genomes]
rs12980482	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12982049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12982500	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12983292	0.99[ASN][1000 genomes]
rs1433079	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16994684	0.83[EUR][1000 genomes]
rs16996174	0.83[EUR][1000 genomes]
rs16996227	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288865	0.83[ASN][1000 genomes]
rs2288867	0.82[ASN][1000 genomes]
rs2304129	0.81[EUR][1000 genomes]
rs28472726	0.80[ASN][1000 genomes]
rs28635562	0.82[ASN][1000 genomes]
rs34558847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35035906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35445661	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35449009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35792080	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35801717	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3752152	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794996	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4808209	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808974	0.81[EUR][1000 genomes]
rs4808976	0.82[ASN][1000 genomes]
rs4808979	0.87[ASN][1000 genomes]
rs4808981	0.87[ASN][1000 genomes]
rs7247142	0.91[ASN][1000 genomes]
rs7249670	0.99[ASN][1000 genomes]
rs7251924	0.95[ASN][1000 genomes]
rs74181147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181150	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181151	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv911310	chr19:19753882-19784891	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr19:19778200-19781000	Active TSS	Primary T cells from cord blood	blood
2	chr19:19778800-19781400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:19778800-19781600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:19779000-19780800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:19779000-19780800	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr19:19779000-19781000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:19779000-19781000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:19779000-19781000	Active TSS	Esophagus	oesophagus
9	chr19:19779000-19781000	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr19:19779000-19781200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:19779000-19781200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:19779000-19781400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:19779200-19780800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr19:19779200-19780800	Active TSS	Fetal Intestine Small	intestine
15	chr19:19779200-19780800	Active TSS	HMEC	breast
16	chr19:19779200-19781000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:19779200-19781000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:19779200-19781200	Active TSS	Gastric	stomach
19	chr19:19779200-19781200	Active TSS	Small Intestine	intestine
20	chr19:19779400-19780800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr19:19779400-19780800	Active TSS	Psoas Muscle	Psoas
22	chr19:19779400-19780800	Active TSS	NHDF-Ad	bronchial
23	chr19:19779400-19781000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:19779400-19781000	Active TSS	Fetal Intestine Large	intestine
25	chr19:19779400-19781200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:19779400-19781200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr19:19779400-19781200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr19:19779400-19781400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr19:19779400-19781800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr19:19779600-19780800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr19:19779600-19781000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:19779600-19781600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
33	chr19:19779800-19780800	Bivalent/Poised TSS	HepG2	liver
34	chr19:19779800-19781200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr19:19780000-19780800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr19:19780000-19781000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:19780000-19781000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:19780000-19781000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr19:19780000-19781000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr19:19780000-19781200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr19:19780000-19781400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr19:19780000-19781600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:19780000-19785600	Transcr. at gene 5' and 3'	Dnd41	blood
44	chr19:19780200-19780800	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr19:19780200-19780800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:19780200-19780800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:19780200-19781000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr19:19780200-19781000	Flanking Active TSS	Fetal Stomach	stomach
49	chr19:19780200-19781200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:19780200-19781200	Enhancers	Spleen	Spleen

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