Variant report

Variant	rs2054632
Chromosome Location	chr8:130916477-130916478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130909290..130910853-chr8:130915408..130917947,2	K562	blood:
2	chr8:130911413..130914047-chr8:130914470..130917225,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10956502	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs11984804	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs167238	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs167239	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16904166	0.86[CHD][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1979477	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2046260	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2086641	0.87[AFR][1000 genomes]
rs212992	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306528	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
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];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663613	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2663618	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663619	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs298601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs298602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298604	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs298605	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298606	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs298607	0.92[CEU][hapmap];0.95[ASN][1000 genomes]
rs298609	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs298610	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298611	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298613	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298614	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298615	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298616	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298617	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298618	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298619	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs298620	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2989885	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs367117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383209	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs384752	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs385022	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs389604	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs401526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412941	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs423915	0.89[ASN][1000 genomes]
rs438877	0.94[ASN][1000 genomes]
rs4395866	0.86[ASN][1000 genomes]
rs476849	0.90[ASN][1000 genomes]
rs59839253	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs710616	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs710617	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs837065	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs837075	0.91[ASN][1000 genomes]
rs837076	0.85[AMR][1000 genomes]
rs837079	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs837080	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs837081	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs857233	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:130900000-130922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:130900000-130925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:130900600-130922000	Weak transcription	Esophagus	oesophagus
7	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:130900800-130922000	Weak transcription	Gastric	stomach
9	chr8:130901000-130922000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:130901000-130922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:130901000-130922800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:130901000-130924600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:130901000-130924600	Weak transcription	K562	blood
14	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:130902600-130921800	Weak transcription	Adipose Nuclei	Adipose
17	chr8:130903200-130916800	Weak transcription	Fetal Intestine Large	intestine
18	chr8:130903800-130922000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
20	chr8:130904000-130950600	Weak transcription	HSMM	muscle
21	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
22	chr8:130904600-130922000	Weak transcription	HMEC	breast
23	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:130907000-130928600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:130907800-130929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:130908200-130916800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:130909400-130924800	Weak transcription	NHEK	skin
28	chr8:130909600-130917000	Weak transcription	A549	lung
29	chr8:130911400-130917000	Weak transcription	Left Ventricle	heart
30	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:130912600-130922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:130912600-130924000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:130912800-130916800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:130912800-130924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:130912800-130925800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:130913000-130917200	Weak transcription	Liver	Liver
37	chr8:130913000-130918600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:130913000-130923200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:130913000-130923400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:130913200-130922800	Weak transcription	Spleen	Spleen
41	chr8:130913200-130924600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
43	chr8:130913600-130929400	Weak transcription	Primary T cells from cord blood	blood
44	chr8:130913800-130917000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:130913800-130922000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:130913800-130925000	Weak transcription	Thymus	Thymus
47	chr8:130914000-130916800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:130914000-130922000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:130914000-130926400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:130914400-130925600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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