Variant report

Variant	rs366431
Chromosome Location	chr19:44437938-44437939
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	chr19:44330249..44332710-chr19:44437495..44440338,2	MCF-7	breast:
2	chr19:44435828..44438682-chr19:44451938..44454086,2	K562	blood:

Variant related genes	Relation type
ENSG00000167637	Chromatin interaction
ENSG00000159871	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10402944	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299936	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2429734	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs368492	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs376655	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs377931	0.86[EUR][1000 genomes]
rs377934	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs381220	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs381872	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs385202	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs385578	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs386249	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs386747	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs387504	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs388547	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs390134	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs391961	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs394132	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs394380	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs395419	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs396188	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs400591	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs401770	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs413061	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs415468	0.82[EUR][1000 genomes]
rs415867	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs424041	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs427401	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs429611	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs437700	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs439417	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs441386	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs441742	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs442543	0.81[AMR][1000 genomes]
rs444816	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs445865	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs453682	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs454376	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	12 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	chr19:44419400-44438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44420400-44438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:44421000-44438200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:44421000-44438200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr19:44424000-44438600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:44426600-44438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:44429400-44438200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44429600-44438200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:44429600-44438200	Weak transcription	HepG2	liver
10	chr19:44429800-44438200	Weak transcription	Hela-S3	cervix
11	chr19:44433800-44438200	Weak transcription	Fetal Heart	heart
12	chr19:44434000-44438200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:44434400-44438600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:44434600-44438000	Weak transcription	K562	blood
15	chr19:44434800-44438200	Weak transcription	Stomach Mucosa	stomach
16	chr19:44434800-44438400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:44434800-44438400	Weak transcription	Pancreas	Pancrea
18	chr19:44434800-44438400	Weak transcription	Right Ventricle	heart
19	chr19:44434800-44438400	Weak transcription	Spleen	Spleen
20	chr19:44435000-44438000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr19:44435000-44438200	Weak transcription	Small Intestine	intestine
22	chr19:44435200-44438200	Weak transcription	Colonic Mucosa	Colon
23	chr19:44435600-44438600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:44436200-44438200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:44436200-44438200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:44436200-44438200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr19:44436200-44438600	Weak transcription	Esophagus	oesophagus
28	chr19:44436400-44438600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:44436600-44438000	Weak transcription	Fetal Intestine Small	intestine
30	chr19:44436800-44438000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:44436800-44438000	Weak transcription	NHLF	lung
32	chr19:44436800-44438200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:44436800-44438200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:44436800-44438200	Weak transcription	NH-A	brain
35	chr19:44436800-44438400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:44437000-44438000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:44437000-44438000	Weak transcription	Brain Anterior Caudate	brain
38	chr19:44437000-44438200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr19:44437000-44438200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:44437000-44438200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:44437000-44438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:44437000-44438200	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:44437000-44438200	Weak transcription	Fetal Brain Female	brain
44	chr19:44437000-44438200	Weak transcription	Fetal Kidney	kidney
45	chr19:44437000-44438200	Weak transcription	NHDF-Ad	bronchial
46	chr19:44437000-44438600	Weak transcription	Aorta	Aorta
47	chr19:44437200-44438000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:44437200-44438000	Weak transcription	Primary T cells from cord blood	blood
49	chr19:44437200-44438000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:44437200-44438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links