Variant report

Variant	rs73850832
Chromosome Location	chr4:143190219-143190220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17015855	0.94[ASN][1000 genomes]
rs17015870	0.94[ASN][1000 genomes]
rs1907115	0.95[ASN][1000 genomes]
rs2200997	1.00[ASN][1000 genomes]
rs2291337	0.99[ASN][1000 genomes]
rs28673676	0.82[EUR][1000 genomes]
rs3775679	1.00[ASN][1000 genomes]
rs3775688	0.94[ASN][1000 genomes]
rs60678479	0.99[ASN][1000 genomes]
rs67815203	0.87[ASN][1000 genomes]
rs72722473	0.97[ASN][1000 genomes]
rs72722479	0.94[ASN][1000 genomes]
rs72939266	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72939272	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73850834	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3430259	chr4:143190146-143190360	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143179800-143191000	Weak transcription	Colonic Mucosa	Colon
2	chr4:143181400-143191400	Weak transcription	Left Ventricle	heart
3	chr4:143181600-143195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:143183000-143204800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:143185400-143192400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:143185400-143199000	Weak transcription	Psoas Muscle	Psoas
7	chr4:143186400-143191200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:143186600-143191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:143186600-143199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:143187400-143190400	Weak transcription	HSMM	muscle
11	chr4:143187400-143190600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:143187400-143190800	Weak transcription	HUVEC	blood vessel
13	chr4:143187400-143191200	Weak transcription	Dnd41	blood
14	chr4:143187400-143193000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:143187400-143193600	Weak transcription	Small Intestine	intestine
16	chr4:143187400-143197200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:143187400-143199400	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:143187400-143199400	Weak transcription	NH-A	brain
19	chr4:143187400-143200400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:143187400-143203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:143187600-143192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:143187600-143194600	Weak transcription	NHLF	lung
24	chr4:143187600-143196000	Weak transcription	A549	lung
25	chr4:143187600-143200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:143187800-143194000	Weak transcription	NHEK	skin
27	chr4:143188800-143191200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:143188800-143191400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:143188800-143194000	Weak transcription	NHDF-Ad	bronchial
30	chr4:143189000-143193000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:143189200-143190600	Weak transcription	Fetal Heart	heart
32	chr4:143189600-143191200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:143189600-143192200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr4:143189600-143192200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:143189600-143192800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:143189800-143191800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:143189800-143191800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:143190000-143191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:143190000-143191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:143190000-143191800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:143190000-143191800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:143190000-143192000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:143190000-143192000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:143190000-143192000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:143190000-143192800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:143190200-143190600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:143190200-143190600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:143190200-143190600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:143190200-143190800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:143190200-143190800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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