Variant report

Variant	rs10956511
Chromosome Location	chr8:131130594-131130595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10089819	0.82[CHD][hapmap]
rs10091313	0.80[CHB][hapmap]
rs10113410	0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs1017281	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10956514	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1118887	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11774690	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11774947	0.85[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs11775292	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12546206	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs13269464	0.80[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs13269735	0.84[ASN][1000 genomes]
rs1469288	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs16904191	0.86[JPT][hapmap]
rs17212137	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1978550	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.81[ASN][1000 genomes]
rs2005030	0.81[JPT][hapmap]
rs2033059	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs2045092	0.82[CHD][hapmap]
rs2085066	0.81[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2123870	0.80[CHB][hapmap]
rs2554373	0.80[CHB][hapmap]
rs2894508	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.87[ASN][1000 genomes]
rs3057	0.82[CHD][hapmap]
rs3935174	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733568	0.80[CHB][hapmap]
rs4733571	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733572	0.85[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap]
rs4733764	0.83[ASN][1000 genomes]
rs4733768	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4733770	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733775	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4733776	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs4733777	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733780	0.85[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.82[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap]
rs62524625	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62524640	0.95[ASN][1000 genomes]
rs62525923	0.84[ASN][1000 genomes]
rs6470799	0.83[ASN][1000 genomes]
rs6470800	0.80[CHB][hapmap];0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs6470802	0.80[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs6470805	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992305	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs6996422	0.84[ASN][1000 genomes]
rs7012705	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7015970	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs7386417	0.80[CHB][hapmap];0.82[CHD][hapmap]
rs7460645	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs7464885	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.89[ASN][1000 genomes]
rs747498	0.81[JPT][hapmap]
rs747499	0.81[JPT][hapmap]
rs750677	0.81[JPT][hapmap]
rs7816255	0.84[ASN][1000 genomes]
rs7832651	1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.85[ASN][1000 genomes]
rs7833007	0.80[CHB][hapmap]
rs7839155	0.86[JPT][hapmap]
rs874617	0.81[JPT][hapmap]
rs876575	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs966185	0.80[CHB][hapmap];0.82[CHD][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:131114600-131137200	Strong transcription	A549	lung
5	chr8:131114800-131130800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
10	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:131116600-131132000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr8:131117400-131130800	Strong transcription	Hela-S3	cervix
14	chr8:131117400-131132800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:131117400-131137200	Strong transcription	NHLF	lung
16	chr8:131117600-131133400	Strong transcription	Fetal Brain Female	brain
17	chr8:131117600-131136800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr8:131118000-131130800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:131118000-131133200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:131118000-131136000	Strong transcription	Thymus	Thymus
21	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:131118200-131131000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr8:131118400-131131000	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
25	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
27	chr8:131118600-131137800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
29	chr8:131118800-131131400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
31	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:131119000-131137400	Strong transcription	Osteobl	bone
33	chr8:131119200-131133400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:131119200-131136000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:131119200-131137200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:131119200-131138000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:131119600-131133800	Strong transcription	Fetal Intestine Large	intestine
38	chr8:131119600-131140800	Strong transcription	Liver	Liver
39	chr8:131119800-131130600	Strong transcription	Ovary	ovary
40	chr8:131120000-131130800	Strong transcription	Dnd41	blood
41	chr8:131120000-131131200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:131120000-131131800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:131120000-131132400	Strong transcription	HMEC	breast
44	chr8:131120000-131133000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:131120000-131133200	Strong transcription	Fetal Lung	lung
46	chr8:131120000-131133600	Strong transcription	HUVEC	blood vessel
47	chr8:131120200-131131200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:131120200-131133400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:131121400-131137600	Strong transcription	NHEK	skin
50	chr8:131121800-131130800	Strong transcription	Placenta Amnion	Placenta Amnion

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