Variant report

Variant	rs11083430
Chromosome Location	chr19:38139488-38139489
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	chr19:38085270..38087248-chr19:38138065..38140265,2	MCF-7	breast:
2	chr19:38137873..38139917-chr19:38145881..38147430,2	K562	blood:

Variant related genes	Relation type
ENSG00000180479	Chromatin interaction
ENSG00000171817	Chromatin interaction
ENSG00000120784	Chromatin interaction

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

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

rs_ID	r²[population]
rs11083427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11083428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1128327	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11665759	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11666662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666738	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs11672440	0.87[CEU][hapmap];0.90[JPT][hapmap]
rs12151280	1.00[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs12162238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12459013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12460230	0.90[JPT][hapmap]
rs12462505	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1478462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17303301	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17305326	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2045911	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2126976	0.83[ASN][1000 genomes]
rs2279150	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2290999	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs241952	0.82[CEU][hapmap]
rs241955	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35205379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848624	0.81[ASN][1000 genomes]
rs59426132	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60731897	0.81[ASN][1000 genomes]
rs7248397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73031309	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73031321	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73031322	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73031326	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73033117	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73033129	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73033139	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73033145	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73035158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035164	0.98[EUR][1000 genomes]
rs73037036	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73039018	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38121800-38140600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:38123600-38140000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:38123600-38140800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:38123600-38141400	ZNF genes & repeats	Liver	Liver
5	chr19:38124600-38140800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:38124600-38142000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:38124800-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:38124800-38144400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:38125600-38143200	ZNF genes & repeats	A549	lung
10	chr19:38125800-38139600	ZNF genes & repeats	Colon Smooth Muscle	Colon
11	chr19:38125800-38140800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr19:38126000-38141400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr19:38126200-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:38127200-38144600	Weak transcription	Hela-S3	cervix
15	chr19:38129200-38139600	Strong transcription	HSMM	muscle
16	chr19:38130000-38141600	Strong transcription	Osteobl	bone
17	chr19:38130400-38142200	ZNF genes & repeats	GM12878-XiMat	blood
18	chr19:38130600-38139800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:38131000-38141000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:38131600-38141200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:38131800-38140600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr19:38132000-38139800	Strong transcription	Brain Cingulate Gyrus	brain
23	chr19:38133000-38139600	Strong transcription	Fetal Brain Female	brain
24	chr19:38133000-38139800	Strong transcription	Rectal Smooth Muscle	rectum
25	chr19:38133400-38140400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:38133600-38140600	Strong transcription	Fetal Stomach	stomach
27	chr19:38133600-38140800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr19:38133600-38142000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:38133800-38142000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr19:38134000-38139800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:38134000-38140200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr19:38134200-38144600	Weak transcription	NHLF	lung
33	chr19:38134400-38145000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr19:38134400-38145000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr19:38135000-38144200	Weak transcription	Fetal Heart	heart
36	chr19:38135200-38140400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:38135400-38139800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr19:38135600-38141400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:38135600-38141600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:38135800-38144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:38136600-38140000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:38136600-38140800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr19:38136800-38139600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr19:38136800-38140600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr19:38137000-38139800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:38137000-38142000	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr19:38137200-38144400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:38137400-38141200	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr19:38137600-38139600	ZNF genes & repeats	Pancreas	Pancrea
50	chr19:38138000-38140000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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