Variant report

Variant	rs16904197
Chromosome Location	chr8:131076265-131076266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10505548	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]
rs12541938	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12542411	0.82[ASN][1000 genomes]
rs12546088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12675543	0.80[ASN][1000 genomes]
rs12675865	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs12676836	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
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]
rs1549455	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904190	0.83[CHB][hapmap]
rs16904199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16904204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs16904212	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs16904219	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1974313	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2045091	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305511	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2395989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3812476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4236749	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4461944	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4733569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55759245	0.81[ASN][1000 genomes]
rs55796310	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55993168	0.81[ASN][1000 genomes]
rs56182202	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56256466	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59297824	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62524627	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524628	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524629	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62524632	0.83[ASN][1000 genomes]
rs62524635	0.82[ASN][1000 genomes]
rs6991714	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6996106	0.87[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6996469	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7006336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs716077	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs72722330	0.83[ASN][1000 genomes]
rs7462286	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131063600-131082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:131066600-131078400	Strong transcription	Brain Germinal Matrix	brain
7	chr8:131066800-131082800	Strong transcription	Fetal Stomach	stomach
8	chr8:131068800-131095400	Weak transcription	Fetal Kidney	kidney
9	chr8:131070200-131086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:131070400-131089600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:131070400-131090800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:131070600-131095800	Weak transcription	Colonic Mucosa	Colon
14	chr8:131073000-131087000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:131073200-131076800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:131073200-131079000	Enhancers	Fetal Thymus	thymus
17	chr8:131073200-131085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:131073200-131086000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:131073200-131087200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:131073200-131087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:131073400-131082800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:131073400-131086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:131073400-131087000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:131073600-131076400	Enhancers	HMEC	breast
25	chr8:131073600-131084800	Weak transcription	Ovary	ovary
26	chr8:131073600-131086600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:131073800-131076400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:131073800-131077000	Genic enhancers	Fetal Muscle Leg	muscle
29	chr8:131074000-131076400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:131074000-131077000	Enhancers	Right Atrium	heart
31	chr8:131074000-131078400	Enhancers	Thymus	Thymus
32	chr8:131074200-131082800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:131074200-131082800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr8:131074400-131076400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr8:131074400-131080800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:131074600-131076400	Enhancers	Esophagus	oesophagus
37	chr8:131074600-131080000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:131074600-131080400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr8:131074800-131076600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:131074800-131079200	Weak transcription	HepG2	liver
41	chr8:131074800-131080400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:131074800-131085800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:131075000-131076400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:131075000-131076400	Enhancers	HUVEC	blood vessel
45	chr8:131075000-131076600	Genic enhancers	NHLF	lung
46	chr8:131075000-131079800	Genic enhancers	HSMM	muscle
47	chr8:131075000-131080400	Weak transcription	Fetal Brain Male	brain
48	chr8:131075000-131081000	Strong transcription	Fetal Intestine Large	intestine
49	chr8:131075000-131087400	Weak transcription	Brain Angular Gyrus	brain
50	chr8:131075000-131106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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