Variant report

Variant	rs16904204
Chromosome Location	chr8:131119253-131119254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10505548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10505549	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956513	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956515	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781752	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12541938	0.84[ASN][1000 genomes]
rs12542411	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545910	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12546088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12546603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12547540	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12675390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12675543	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12675865	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs12676836	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12681954	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12681955	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1467048	0.93[CEU][hapmap]
rs1469286	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1549455	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs16904190	0.83[CHB][hapmap]
rs16904197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs16904199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs16904208	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16904212	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16904219	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16904223	0.83[ASN][1000 genomes]
rs16904231	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904239	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs16904241	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1960661	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1974313	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2045091	1.00[CEU][hapmap];0.82[ASN][1000 genomes]
rs2305511	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2395989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs36004574	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3812476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4236749	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4461944	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs4733569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733573	0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs4733771	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4733772	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4733782	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs55759245	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55796310	0.81[ASN][1000 genomes]
rs55993168	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56182202	0.82[ASN][1000 genomes]
rs59297824	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524627	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524628	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62524629	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62524632	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62524635	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62524643	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524644	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62524647	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62524649	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62525884	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62525885	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62525888	0.83[ASN][1000 genomes]
rs62525889	0.83[ASN][1000 genomes]
rs6991714	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6996106	0.87[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996469	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7006336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs716077	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72722330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72722366	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72722371	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7462286	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs754021	0.84[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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	chr8:131091000-131120000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:131096600-131120000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:131101800-131121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:131102000-131123000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:131103000-131122400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:131103600-131121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:131103600-131122400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:131103800-131120000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:131103800-131122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:131103800-131122800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:131104200-131121400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:131104400-131120000	Weak transcription	Dnd41	blood
14	chr8:131104400-131120400	Weak transcription	Colonic Mucosa	Colon
15	chr8:131104400-131122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:131104400-131122600	Weak transcription	Pancreas	Pancrea
17	chr8:131104400-131123600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:131104600-131120000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:131104600-131120200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:131104600-131120200	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:131104600-131121600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:131105000-131119600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:131105000-131120000	Weak transcription	Fetal Lung	lung
24	chr8:131105000-131123600	Weak transcription	Fetal Kidney	kidney
25	chr8:131105800-131124000	Weak transcription	Fetal Brain Male	brain
26	chr8:131107400-131120000	Weak transcription	K562	blood
27	chr8:131107400-131122000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:131108600-131122200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:131109800-131123800	Weak transcription	Gastric	stomach
30	chr8:131110000-131122000	Weak transcription	Esophagus	oesophagus
31	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:131113400-131128200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:131114600-131120000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:131114600-131137200	Strong transcription	A549	lung
36	chr8:131114800-131130800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
41	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:131116200-131122400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:131116600-131132000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr8:131116800-131124000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:131117000-131120000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:131117200-131120000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:131117400-131119400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:131117400-131119400	Enhancers	Fetal Heart	heart
50	chr8:131117400-131130800	Strong transcription	Hela-S3	cervix

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