Variant report

Variant	rs12542420
Chromosome Location	chr8:9451815-9451816
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	chr8:9450877..9453725-chr8:9457625..9461148,3	K562	blood:
2	chr8:9445664..9448408-chr8:9450889..9452494,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10094343	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10104247	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11249930	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11784181	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12335065	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12543591	0.84[EUR][1000 genomes]
rs12544673	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12549064	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28437757	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28464158	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28610188	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28615758	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4265191	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4416825	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4427176	0.81[CEU][hapmap]
rs4457339	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4481595	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4560795	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4562329	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4573280	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4841178	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4841180	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841184	0.81[ASN][1000 genomes]
rs62491543	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62491544	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62493907	0.93[ASN][1000 genomes]
rs62493909	0.87[ASN][1000 genomes]
rs62493910	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62493913	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6601341	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6982215	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6996829	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464476	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7821799	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7827278	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7829326	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833036	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv981863	chr8:9446521-9455100	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:9433600-9461000	Weak transcription	Fetal Stomach	stomach
4	chr8:9434800-9459000	Weak transcription	Primary B cells from cord blood	blood
5	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:9435600-9457600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:9435800-9459400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:9435800-9465400	Weak transcription	Lung	lung
11	chr8:9435800-9465600	Weak transcription	Pancreas	Pancrea
12	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
13	chr8:9437400-9468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:9439400-9472400	Weak transcription	HSMM	muscle
15	chr8:9439600-9465600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:9440400-9454800	Weak transcription	GM12878-XiMat	blood
17	chr8:9440600-9465600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:9441200-9460600	Weak transcription	Fetal Intestine Large	intestine
19	chr8:9442600-9465400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:9445400-9459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:9447600-9465400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:9447800-9457600	Weak transcription	Right Atrium	heart
23	chr8:9448000-9459600	Weak transcription	Fetal Intestine Small	intestine
24	chr8:9448600-9454000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:9449000-9460000	Weak transcription	Spleen	Spleen
26	chr8:9449200-9456800	Weak transcription	Right Ventricle	heart
27	chr8:9449200-9465600	Weak transcription	Ovary	ovary
28	chr8:9449800-9454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:9450200-9454000	Weak transcription	HepG2	liver
30	chr8:9450200-9465600	Weak transcription	NHDF-Ad	bronchial
31	chr8:9450200-9470600	Weak transcription	NHLF	lung
32	chr8:9450200-9472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:9450400-9453200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:9450400-9453600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:9450600-9453400	Weak transcription	Brain Angular Gyrus	brain
36	chr8:9450600-9454200	Weak transcription	Fetal Heart	heart
37	chr8:9450600-9461000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:9450600-9469600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:9450800-9452600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:9450800-9453400	Weak transcription	Psoas Muscle	Psoas
42	chr8:9450800-9454000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:9450800-9454000	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:9450800-9454200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:9450800-9454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:9450800-9454400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:9450800-9455800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:9450800-9456400	Weak transcription	Small Intestine	intestine
49	chr8:9450800-9458200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:9450800-9459600	Weak transcription	Dnd41	blood

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