Variant report

Variant	rs1703105
Chromosome Location	chr12:83262904-83262905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83261344..83263422-chr12:83265254..83267423,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10466960	0.88[JPT][hapmap];0.88[MEX][hapmap]
rs10506884	0.88[JPT][hapmap]
rs11115457	0.82[CEU][hapmap];0.88[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs11115458	0.82[CEU][hapmap];0.88[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs12300038	0.88[JPT][hapmap]
rs12304267	0.85[EUR][1000 genomes]
rs12317660	0.85[EUR][1000 genomes]
rs17010056	0.88[JPT][hapmap]
rs17010066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010069	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1703107	0.90[EUR][1000 genomes]
rs6539694	0.88[JPT][hapmap]
rs6539695	0.88[JPT][hapmap]
rs7301204	0.85[EUR][1000 genomes]
rs7304237	0.88[JPT][hapmap];0.88[MEX][hapmap]
rs7313758	0.88[JPT][hapmap]
rs73360210	0.95[EUR][1000 genomes]
rs7979960	0.88[JPT][hapmap]
rs9651971	0.82[CEU][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv430520	chr12:83166956-83271602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv437765	chr12:83230454-83271933	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83236000-83264000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
3	chr12:83250000-83264600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:83251400-83265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:83252200-83264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:83252200-83273000	Weak transcription	Pancreas	Pancrea
7	chr12:83252800-83264000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:83257200-83263800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:83257800-83264400	Weak transcription	Fetal Brain Female	brain
10	chr12:83258200-83263800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:83258200-83264000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:83259000-83264200	Weak transcription	Fetal Stomach	stomach
13	chr12:83260000-83263200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:83260400-83264400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:83261000-83264000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:83261000-83268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:83262000-83264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:83262000-83264200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:83262000-83264600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:83262200-83264000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:83262200-83264000	Weak transcription	Fetal Heart	heart
22	chr12:83262200-83265000	Weak transcription	Fetal Brain Male	brain
23	chr12:83262200-83272800	Weak transcription	Fetal Lung	lung
24	chr12:83262200-83278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:83262400-83263400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:83262400-83263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:83262400-83263800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:83262400-83263800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:83262400-83263800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:83262400-83264000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:83262400-83264000	Weak transcription	Brain Substantia Nigra	brain
32	chr12:83262400-83264000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:83262400-83264200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:83262600-83263800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:83262600-83264200	Weak transcription	Brain Anterior Caudate	brain
36	chr12:83262800-83263200	Weak transcription	Brain Germinal Matrix	brain
37	chr12:83262800-83263400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:83262800-83263800	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:83262800-83264000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:83262800-83264000	Weak transcription	Brain Cingulate Gyrus	brain

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