Variant report

Variant	rs2019101
Chromosome Location	chr4:82378232-82378233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10010385	0.89[AMR][1000 genomes]
rs1444891	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444893	1.00[ASN][1000 genomes]
rs1975508	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28544156	0.83[ASN][1000 genomes]
rs28560455	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2868215	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087183	1.00[ASN][1000 genomes]
rs59520729	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59588994	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62303600	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535250	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535251	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670580	1.00[ASN][1000 genomes]
rs7687318	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82345600-82380600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:82346200-82381600	Strong transcription	Fetal Thymus	thymus
4	chr4:82346600-82380800	Strong transcription	Adipose Nuclei	Adipose
5	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
6	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:82347200-82378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:82351800-82382800	Weak transcription	Spleen	Spleen
11	chr4:82352400-82390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:82354200-82390800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:82358800-82380600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:82359200-82381000	Strong transcription	Primary T cells from cord blood	blood
15	chr4:82361200-82382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:82361400-82386600	Weak transcription	Fetal Kidney	kidney
17	chr4:82362200-82389800	Weak transcription	Fetal Brain Male	brain
18	chr4:82362600-82380200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:82363600-82390400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:82363600-82391000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:82367200-82378600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:82368200-82391400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:82368800-82383000	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:82369400-82381600	Weak transcription	Gastric	stomach
25	chr4:82369400-82390000	Weak transcription	Brain Germinal Matrix	brain
26	chr4:82369600-82381400	Weak transcription	Esophagus	oesophagus
27	chr4:82369600-82381600	Weak transcription	Fetal Brain Female	brain
28	chr4:82369600-82382000	Weak transcription	Fetal Heart	heart
29	chr4:82369600-82388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:82369600-82391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:82370400-82380800	Weak transcription	Small Intestine	intestine
32	chr4:82372200-82380600	Strong transcription	Liver	Liver
33	chr4:82373000-82380600	Strong transcription	Placenta	Placenta
34	chr4:82373200-82381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:82373600-82380600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:82373600-82390000	Weak transcription	Thymus	Thymus
37	chr4:82374200-82378400	Strong transcription	Fetal Intestine Large	intestine
38	chr4:82374400-82378600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:82374400-82378800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:82374600-82378600	Strong transcription	Fetal Stomach	stomach
41	chr4:82374600-82380600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:82374800-82378800	Strong transcription	Left Ventricle	heart
43	chr4:82374800-82379800	Strong transcription	Fetal Lung	lung
44	chr4:82374800-82385200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:82375000-82385400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:82375000-82386600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:82375200-82380200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:82375200-82388400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:82375400-82386000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:82375600-82378600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links