Variant report

Variant	rs17439693
Chromosome Location	chr8:118832020-118832021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10107685	1.00[JPT][hapmap]
rs11562772	1.00[CHB][hapmap]
rs11562773	1.00[CHB][hapmap]
rs11779439	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11781699	1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs11989463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11996407	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12541615	0.86[AMR][1000 genomes]
rs12541851	1.00[JPT][hapmap]
rs12542013	1.00[JPT][hapmap]
rs12544064	1.00[JPT][hapmap]
rs17430287	0.95[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17431020	1.00[JPT][hapmap]
rs17450793	1.00[JPT][hapmap]
rs17453176	1.00[JPT][hapmap]
rs17503215	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4345585	1.00[JPT][hapmap]
rs7014925	1.00[CHB][hapmap]
rs72673939	0.86[AMR][1000 genomes]
rs7842361	1.00[JPT][hapmap]

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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 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	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:118804200-118838000	Strong transcription	HSMM	muscle
4	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:118805600-118849800	Strong transcription	Liver	Liver
6	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
7	chr8:118810000-118843800	Weak transcription	Fetal Heart	heart
8	chr8:118814000-118842200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:118815400-118834800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:118816800-118836800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:118817000-118833600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:118817200-118834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
14	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:118817400-118835800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:118819000-118842000	Weak transcription	Fetal Kidney	kidney
17	chr8:118819600-118832200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:118819600-118851000	Weak transcription	Fetal Thymus	thymus
19	chr8:118822800-118835000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:118822800-118835600	Strong transcription	Primary T cells from cord blood	blood
21	chr8:118823200-118834800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr8:118823800-118834000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:118824200-118835200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:118824600-118835400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:118825000-118844800	Weak transcription	Brain Germinal Matrix	brain
26	chr8:118825000-118850000	Weak transcription	Fetal Brain Female	brain
27	chr8:118825200-118833800	Weak transcription	Fetal Brain Male	brain
28	chr8:118825200-118841000	Weak transcription	Thymus	Thymus
29	chr8:118825200-118848000	Weak transcription	Colonic Mucosa	Colon
30	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:118825400-118834600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:118825400-118849200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:118825400-118849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:118825400-118852400	Weak transcription	Right Ventricle	heart
36	chr8:118825400-118853200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:118825400-118859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:118825600-118834800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:118825600-118843800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:118825600-118849600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:118825600-118849800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:118825600-118857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:118825600-118860000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:118825800-118846400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:118825800-118850400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:118826600-118834200	Strong transcription	Fetal Muscle Leg	muscle
47	chr8:118826600-118834200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr8:118826600-118834200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr8:118827000-118834800	Strong transcription	Fetal Intestine Large	intestine
50	chr8:118827200-118847200	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links