Variant report

Variant	rs2126891
Chromosome Location	chr12:29902261-29902262
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	chr12:29893612..29896534-chr12:29900997..29903982,2	K562	blood:
2	chr12:29901716..29903579-chr12:29907856..29909863,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10843505	1.00[ASW][hapmap]
rs11050417	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050418	0.95[ASN][1000 genomes]
rs11050420	0.84[CEU][hapmap]
rs11050426	1.00[ASW][hapmap]
rs11050430	1.00[ASW][hapmap]
rs16934870	1.00[ASW][hapmap]
rs2054438	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60465125	0.95[ASN][1000 genomes]

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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2126891	OVCH1	cis	parietal	SCAN
rs2126891	CCDC91	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
2	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:29887400-29915600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:29888800-29915600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:29889200-29903200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:29890200-29904200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:29890200-29915600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:29890600-29913000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:29892400-29903000	Weak transcription	Aorta	Aorta
10	chr12:29892400-29903000	Weak transcription	Spleen	Spleen
11	chr12:29892400-29904400	Weak transcription	Esophagus	oesophagus
12	chr12:29893200-29903000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:29893200-29903000	Weak transcription	Fetal Stomach	stomach
14	chr12:29894600-29902800	Weak transcription	Left Ventricle	heart
15	chr12:29894600-29904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:29894600-29907200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:29894800-29904400	Weak transcription	Ovary	ovary
18	chr12:29895000-29903200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:29895000-29910000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:29896200-29904400	Weak transcription	Lung	lung
21	chr12:29896800-29903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:29897000-29902800	Weak transcription	Right Atrium	heart
23	chr12:29897000-29903400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:29897000-29903600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:29897000-29903600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:29897000-29903600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:29897200-29902800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:29897200-29903200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:29897200-29903200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:29897200-29903200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:29897200-29903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:29897200-29903800	Weak transcription	Right Ventricle	heart
33	chr12:29897200-29904200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:29897200-29904400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:29897200-29905800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:29897200-29916000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:29897400-29903400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:29897600-29903200	Weak transcription	NHEK	skin
39	chr12:29897800-29905600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:29898000-29910000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:29898200-29903000	Weak transcription	NHLF	lung
42	chr12:29898200-29903200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:29898200-29904200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:29898200-29904200	Weak transcription	NHDF-Ad	bronchial
45	chr12:29898200-29915800	Weak transcription	Liver	Liver
46	chr12:29898600-29903200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:29898600-29921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:29898800-29903400	Weak transcription	Hela-S3	cervix
49	chr12:29899000-29904200	Weak transcription	Psoas Muscle	Psoas
50	chr12:29900000-29903200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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