Variant report

Variant	rs298601
Chromosome Location	chr8:130932427-130932428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10956502	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs11984804	0.82[ASN][1000 genomes]
rs167238	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs167239	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16904166	0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs1979477	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2046260	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2054632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212992	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306528	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs2449415	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2449417	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.92[ASN][1000 genomes]
rs2663613	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2663618	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2663619	0.92[ASN][1000 genomes]
rs298602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298604	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298605	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298606	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298607	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298609	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298610	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs298611	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs298612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298613	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298614	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298615	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298616	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298617	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298618	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs298619	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298620	0.92[ASN][1000 genomes]
rs2989885	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs367117	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs383209	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs384752	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs385022	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs389604	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs401526	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412941	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs423915	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs438877	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4395866	0.82[ASN][1000 genomes]
rs476849	0.91[ASN][1000 genomes]
rs59839253	0.81[ASN][1000 genomes]
rs710616	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs710617	0.92[ASN][1000 genomes]
rs837065	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs837075	0.88[ASN][1000 genomes]
rs837079	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs837080	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs837081	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs857233	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes];0.91[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	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	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	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
6	nsv521998	chr8:130921162-130932427	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130904000-130950600	Weak transcription	HSMM	muscle
4	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
7	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
9	chr8:130918000-130949400	Weak transcription	GM12878-XiMat	blood
10	chr8:130922400-130933400	Weak transcription	Primary B cells from cord blood	blood
11	chr8:130922400-130936400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
14	chr8:130923200-130937000	Weak transcription	Left Ventricle	heart
15	chr8:130923200-130941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:130924000-130933600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:130924800-130946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:130925600-130936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:130925800-130934400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:130926000-130936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:130926000-130944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:130926800-130936600	Weak transcription	NHEK	skin
23	chr8:130926800-130944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:130927000-130934200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:130928000-130933200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:130929200-130932800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:130929200-130950600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:130929400-130936400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:130929400-130938400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:130929400-130944200	Weak transcription	Brain Anterior Caudate	brain
31	chr8:130929400-130949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:130929400-130950200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:130929600-130934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:130929600-130938200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:130929800-130934200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:130929800-130938200	Weak transcription	Brain Substantia Nigra	brain
37	chr8:130930400-130935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:130930600-130943400	Weak transcription	Hela-S3	cervix
39	chr8:130930600-130944400	Weak transcription	Primary T cells from cord blood	blood
40	chr8:130930600-130950200	Weak transcription	Psoas Muscle	Psoas
41	chr8:130930800-130934000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:130931000-130932800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:130931000-130933000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:130931000-130940400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:130931000-130944600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:130931000-130945200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:130931200-130939000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:130931400-130932600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:130931600-130932600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:130931600-130933400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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