Variant report

Variant	rs10735100
Chromosome Location	chr12:117396627-117396628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117395564..117397390-chr12:117400429..117403185,2	K562	blood:
2	chr12:117394664..117397390-chr12:117400472..117403185,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10735101	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774895	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774898	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10850730	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10850731	0.84[YRI][hapmap]
rs10850734	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10850742	0.94[EUR][1000 genomes]
rs10850747	0.83[JPT][hapmap]
rs10850751	0.88[JPT][hapmap]
rs11068276	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068292	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11834817	0.89[JPT][hapmap]
rs1472523	0.89[JPT][hapmap]
rs2062528	0.95[JPT][hapmap]
rs2173654	0.94[JPT][hapmap]
rs2291916	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2393113	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4562927	0.84[YRI][hapmap]
rs4766816	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766823	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767477	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767486	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490103	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6490106	0.84[JPT][hapmap]
rs7133090	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297303	0.88[JPT][hapmap]
rs7302127	0.88[CEU][hapmap]
rs7486428	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7487081	0.83[CEU][hapmap]
rs7958680	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7962875	0.92[EUR][1000 genomes]
rs7964668	0.88[JPT][hapmap]
rs9634171	0.94[JPT][hapmap]

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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:117384400-117411200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:117384800-117402200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:117384800-117407400	Weak transcription	Brain Angular Gyrus	brain
8	chr12:117384800-117411000	Weak transcription	Hela-S3	cervix
9	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:117385200-117399400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:117385200-117406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:117385200-117410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:117385200-117410600	Weak transcription	Fetal Kidney	kidney
14	chr12:117385800-117408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:117386000-117402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:117386000-117404200	Weak transcription	HepG2	liver
17	chr12:117386000-117405000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:117387600-117399800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:117387600-117402000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:117387600-117402200	Weak transcription	Brain Substantia Nigra	brain
21	chr12:117387800-117397800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:117387800-117397800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:117387800-117398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:117387800-117399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:117387800-117399400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:117387800-117399400	Weak transcription	Spleen	Spleen
27	chr12:117387800-117399400	Weak transcription	Dnd41	blood
28	chr12:117387800-117399600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:117387800-117399600	Weak transcription	Fetal Thymus	thymus
30	chr12:117387800-117400000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:117387800-117401400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:117387800-117402400	Weak transcription	Esophagus	oesophagus
33	chr12:117387800-117402400	Weak transcription	NHEK	skin
34	chr12:117387800-117404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:117387800-117407000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:117387800-117407400	Weak transcription	Aorta	Aorta
37	chr12:117387800-117463600	Weak transcription	HMEC	breast
38	chr12:117388000-117402400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:117388000-117402800	Weak transcription	NHDF-Ad	bronchial
40	chr12:117388200-117401400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:117388400-117396800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:117388600-117397200	Weak transcription	Fetal Brain Female	brain
43	chr12:117388600-117397400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:117388600-117399600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:117389000-117399400	Weak transcription	K562	blood
46	chr12:117389000-117399800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr12:117389400-117399600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:117389600-117399800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:117389600-117402200	Weak transcription	Placenta	Placenta
50	chr12:117389800-117402800	Weak transcription	NH-A	brain

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