Variant report

Variant	rs11778205
Chromosome Location	chr8:20066618-20066619
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	chr8:20053671..20056309-chr8:20065573..20068336,2	K562	blood:
2	chr8:20061426..20067342-chr8:20067355..20071432,7	K562	blood:

Variant related genes	Relation type
ENSG00000147416	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10095373	0.89[ASN][1000 genomes]
rs10156354	0.84[EUR][1000 genomes]
rs11204102	0.84[JPT][hapmap]
rs12335186	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13253777	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1390943	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2410638	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4922139	0.87[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs974994	0.88[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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056200-20068200	Weak transcription	Colonic Mucosa	Colon
2	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:20057000-20066800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:20057000-20066800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:20058000-20068000	Weak transcription	Spleen	Spleen
7	chr8:20058600-20066800	Weak transcription	A549	lung
8	chr8:20059200-20066800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:20059200-20067800	Weak transcription	Hela-S3	cervix
10	chr8:20059600-20066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:20059600-20070000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:20060600-20066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:20060600-20068000	Weak transcription	GM12878-XiMat	blood
14	chr8:20061000-20066800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:20061000-20071000	Weak transcription	Fetal Brain Male	brain
16	chr8:20061400-20070800	Weak transcription	Gastric	stomach
17	chr8:20061400-20081200	Strong transcription	Primary B cells from cord blood	blood
18	chr8:20061600-20067000	Weak transcription	Fetal Lung	lung
19	chr8:20061600-20074800	Strong transcription	Dnd41	blood
20	chr8:20061600-20085200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:20061600-20086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:20061800-20067200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:20061800-20068000	Weak transcription	Pancreas	Pancrea
24	chr8:20061800-20079000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:20061800-20079000	Strong transcription	HSMM	muscle
26	chr8:20061800-20079400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:20061800-20087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:20062000-20068400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:20062000-20078200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:20062000-20079600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:20062000-20085000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:20062200-20084400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:20062400-20069600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:20062400-20069600	Weak transcription	Small Intestine	intestine
35	chr8:20062400-20071600	Strong transcription	Liver	Liver
36	chr8:20062400-20079200	Strong transcription	NH-A	brain
37	chr8:20062600-20066800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:20062600-20072000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:20062600-20079800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr8:20063000-20087200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:20063200-20079400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:20063200-20086600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:20063400-20068000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr8:20063600-20080000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:20063800-20076600	Strong transcription	Osteobl	bone
46	chr8:20063800-20079400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:20064200-20070200	Weak transcription	Lung	lung
48	chr8:20064400-20066800	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:20064400-20066800	Weak transcription	HMEC	breast
50	chr8:20064400-20067000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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