Variant report

Variant	rs10778350
Chromosome Location	chr12:105160899-105160900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11112189	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11834087	0.86[EUR][1000 genomes]
rs12307301	1.00[EUR][1000 genomes]
rs12320887	1.00[EUR][1000 genomes]
rs12321404	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12579202	0.92[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs12579945	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12580114	0.86[EUR][1000 genomes]
rs12580128	0.86[EUR][1000 genomes]
rs12580794	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12582312	0.92[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs17036358	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17036429	0.92[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs17036433	0.92[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs17036489	0.85[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs4369494	0.86[EUR][1000 genomes]
rs4545639	0.86[EUR][1000 genomes]
rs57144501	0.86[EUR][1000 genomes]
rs59079144	0.86[EUR][1000 genomes]
rs60976244	0.86[EUR][1000 genomes]
rs61262317	1.00[EUR][1000 genomes]
rs61587191	1.00[EUR][1000 genomes]
rs7301525	0.86[EUR][1000 genomes]
rs7302213	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73383408	0.86[EUR][1000 genomes]
rs73383420	0.86[EUR][1000 genomes]
rs73394174	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73394185	1.00[EUR][1000 genomes]
rs73394186	1.00[EUR][1000 genomes]
rs73396157	0.86[EUR][1000 genomes]
rs73396159	0.86[EUR][1000 genomes]
rs73399912	0.86[EUR][1000 genomes]
rs73399925	0.86[EUR][1000 genomes]
rs73399927	0.86[EUR][1000 genomes]
rs73399929	0.86[EUR][1000 genomes]
rs73399931	0.86[EUR][1000 genomes]
rs73399934	0.86[EUR][1000 genomes]
rs73399944	0.86[EUR][1000 genomes]
rs73399947	0.86[EUR][1000 genomes]
rs73399956	0.86[EUR][1000 genomes]
rs73399960	0.86[EUR][1000 genomes]
rs73399968	0.86[EUR][1000 genomes]
rs7971315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971613	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105145400-105161200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:105145600-105162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:105145800-105161200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:105145800-105161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:105145800-105161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:105146000-105161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:105146800-105161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:105151400-105161200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:105151600-105161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:105151600-105162800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:105152400-105162600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:105153200-105161800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:105154400-105162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:105156200-105163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:105156400-105161400	Weak transcription	Fetal Brain Male	brain
16	chr12:105157200-105161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:105157400-105162600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:105157400-105162600	Weak transcription	NHEK	skin
19	chr12:105157400-105162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:105157600-105162000	Weak transcription	HMEC	breast
21	chr12:105157600-105162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:105158800-105161000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:105158800-105161800	Weak transcription	Ovary	ovary
24	chr12:105160800-105161000	Enhancers	Esophagus	oesophagus
25	chr12:105160800-105161000	Enhancers	Fetal Muscle Leg	muscle
26	chr12:105160800-105161200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:105160800-105163400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:105160800-105163400	Enhancers	Brain Germinal Matrix	brain

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