Variant report

Variant	rs3820184
Chromosome Location	chr1:185023078-185023079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185022207..185024864-chr1:185045228..185048327,3	K562	blood:
2	chr1:185016719..185019700-chr1:185022718..185024922,3	MCF-7	breast:
3	chr1:185022755..185025260-chr1:185068870..185070441,2	K562	blood:
4	chr1:185002306..185004011-chr1:185022303..185025099,2	MCF-7	breast:
5	chr1:185020834..185023739-chr1:185029280..185032218,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2273878	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753568	1.00[EUR][1000 genomes]
rs3753571	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753573	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55738529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56691510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185015600-185034200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185015600-185037000	Weak transcription	Spleen	Spleen
3	chr1:185015600-185037600	Weak transcription	Pancreas	Pancrea
4	chr1:185015800-185023400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:185015800-185037600	Weak transcription	Aorta	Aorta
6	chr1:185015800-185043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:185016000-185025600	Weak transcription	Ovary	ovary
8	chr1:185016000-185026600	Weak transcription	Psoas Muscle	Psoas
9	chr1:185016000-185026600	Weak transcription	Right Atrium	heart
10	chr1:185016000-185034400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:185016200-185023600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:185016400-185030000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:185016600-185026600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:185016600-185026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:185016600-185026800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:185016800-185028600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:185017200-185027400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:185017200-185037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:185017400-185023400	Weak transcription	Fetal Intestine Large	intestine
24	chr1:185017400-185026600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:185017400-185026600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:185017400-185026600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:185017400-185026800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:185017400-185027600	Weak transcription	Primary T cells from cord blood	blood
29	chr1:185017400-185028200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:185017400-185028200	Weak transcription	Small Intestine	intestine
31	chr1:185017400-185028400	Weak transcription	NH-A	brain
32	chr1:185017400-185029000	Weak transcription	K562	blood
33	chr1:185017400-185031000	Weak transcription	Stomach Mucosa	stomach
34	chr1:185017400-185037200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:185017400-185037400	Weak transcription	NHEK	skin
36	chr1:185017400-185042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:185017600-185034200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:185017800-185026600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:185018000-185026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:185018000-185026600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:185018000-185026800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:185018000-185026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:185018200-185026600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:185018400-185043000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:185018400-185043200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
47	chr1:185019000-185034600	Weak transcription	Lung	lung
48	chr1:185019200-185023400	Weak transcription	Fetal Intestine Small	intestine
49	chr1:185019200-185028200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:185019200-185037600	Weak transcription	Left Ventricle	heart

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