Variant report

Variant	rs12542489
Chromosome Location	chr8:59760840-59760841
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	chr8:59757012..59762726-chr8:59763817..59766643,5	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10504263	1.00[CHB][hapmap]
rs10504265	1.00[CHB][hapmap]
rs10504266	0.98[EUR][1000 genomes]
rs1075418	1.00[CHB][hapmap]
rs12541161	0.82[CHB][hapmap]
rs13251536	0.80[YRI][hapmap]
rs13260651	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs13281543	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs1349115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375185	1.00[CHB][hapmap]
rs1375186	1.00[CHB][hapmap]
rs1375187	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1375188	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1448546	1.00[CHB][hapmap]
rs17214703	1.00[CHB][hapmap]
rs17292516	0.82[CHB][hapmap]
rs17292859	0.82[CHB][hapmap]
rs17293660	1.00[CHB][hapmap]
rs2875868	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34404259	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3780000	0.80[YRI][hapmap]
rs4737522	1.00[CHB][hapmap]
rs4737524	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4738721	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs4738722	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4738724	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60665035	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7017464	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs7464175	1.00[CHB][hapmap]
rs7813495	0.81[YRI][hapmap]
rs7819721	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7820629	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7826573	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7838499	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7844725	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs960561	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
3	chr8:59745600-59770800	Weak transcription	Fetal Kidney	kidney
4	chr8:59745800-59770800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:59746400-59773200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:59746600-59763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:59746800-59763600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:59747400-59770800	Weak transcription	Pancreas	Pancrea
9	chr8:59749200-59762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:59750800-59761800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:59750800-59762600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:59750800-59771000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:59751000-59761600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:59751000-59763400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:59753600-59762600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:59754000-59762600	Weak transcription	Thymus	Thymus
17	chr8:59755000-59762600	Weak transcription	NHLF	lung
18	chr8:59755400-59762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:59755400-59762800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:59755400-59762800	Weak transcription	Gastric	stomach
21	chr8:59755600-59762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:59755600-59770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:59755800-59772200	Weak transcription	Small Intestine	intestine
24	chr8:59756400-59762400	Weak transcription	Primary T cells from cord blood	blood
25	chr8:59756800-59762800	Weak transcription	Fetal Stomach	stomach
26	chr8:59757800-59762600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:59757800-59762600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:59758200-59762400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:59758400-59761800	Weak transcription	NHEK	skin
30	chr8:59758400-59768600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:59758600-59761800	Weak transcription	HUVEC	blood vessel
33	chr8:59758600-59762400	Weak transcription	NH-A	brain
34	chr8:59758600-59762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:59759000-59761000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:59759000-59762600	Weak transcription	Esophagus	oesophagus
37	chr8:59759200-59761600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:59759400-59762400	Weak transcription	Osteobl	bone
39	chr8:59759400-59762600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:59759600-59761400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:59759600-59762400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:59759600-59762800	Weak transcription	Fetal Lung	lung
43	chr8:59759600-59770200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:59760000-59762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:59760200-59761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr8:59760200-59761600	ZNF genes & repeats	Dnd41	blood
47	chr8:59760200-59762400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:59760400-59762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:59760400-59764400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:59760400-59770800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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