Variant report

Variant	rs16975164
Chromosome Location	chr19:41809182-41809183
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	chr19:41769421..41772801-chr19:41806181..41809917,4	MCF-7	breast:
2	chr19:41806478..41808753-chr19:41809068..41811517,2	K562	blood:

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10414612	1.00[TSI][hapmap]
rs1051008	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11466349	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11879562	0.84[LWK][hapmap]
rs12327659	0.80[LWK][hapmap]
rs12983047	0.87[YRI][hapmap]
rs16959007	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16975124	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16975156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1968453	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2217656	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288875	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2304230	0.84[LWK][hapmap]
rs3745295	0.80[LWK][hapmap]
rs3810173	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61247776	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7246896	0.82[CHB][hapmap]
rs7249554	1.00[TSI][hapmap]
rs747857	0.91[ASW][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8105161	0.87[YRI][hapmap]
rs9304592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs998468	0.91[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv17637	chr19:41770228-41815282	Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr19:41773200-41814400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41773600-41812600	Strong transcription	A549	lung
3	chr19:41773800-41814200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:41773800-41814200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:41773800-41814200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:41774000-41812600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:41774000-41814200	Strong transcription	Fetal Brain Female	brain
8	chr19:41780200-41815800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:41780600-41812000	Strong transcription	HUVEC	blood vessel
10	chr19:41783800-41814400	Strong transcription	Brain Germinal Matrix	brain
11	chr19:41788600-41815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:41794200-41813800	Strong transcription	K562	blood
13	chr19:41795200-41814000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:41795400-41812400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:41795400-41813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:41795400-41814200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:41795600-41812800	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr19:41795600-41812800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:41795600-41813200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:41795600-41813800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr19:41795600-41813800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:41795600-41814200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:41796400-41812800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:41797400-41812600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:41801600-41813200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:41801600-41814600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:41801800-41811600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr19:41802200-41813000	Genic enhancers	Primary hematopoietic stem cells	blood
29	chr19:41802400-41810400	Genic enhancers	Primary T cells from cord blood	blood
30	chr19:41802600-41811200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:41802600-41814200	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr19:41803200-41812800	Strong transcription	NHEK	skin
33	chr19:41803200-41814400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:41803200-41814400	Strong transcription	HMEC	breast
35	chr19:41804000-41812800	Strong transcription	HepG2	liver
36	chr19:41804200-41813800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:41804400-41812000	Strong transcription	Liver	Liver
38	chr19:41804800-41814200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr19:41805000-41814200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:41805200-41812800	Strong transcription	Pancreas	Pancrea
41	chr19:41805200-41814200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:41805200-41814400	Strong transcription	Gastric	stomach
43	chr19:41805400-41814200	Strong transcription	Fetal Intestine Large	intestine
44	chr19:41805600-41814200	Strong transcription	Fetal Intestine Small	intestine
45	chr19:41805800-41810000	Strong transcription	Thymus	Thymus
46	chr19:41806000-41811200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:41806200-41809200	Genic enhancers	Adipose Nuclei	Adipose
48	chr19:41806200-41810000	Strong transcription	Esophagus	oesophagus
49	chr19:41806200-41812800	Strong transcription	Aorta	Aorta
50	chr19:41806200-41812800	Strong transcription	NHDF-Ad	bronchial

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