Variant report

Variant	rs7977334
Chromosome Location	chr12:29910378-29910379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16934866	0.81[CEU][hapmap]
rs1978848	0.81[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7305813	0.81[EUR][1000 genomes]
rs7962120	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7977334	S100B	trans	cerebellum	SCAN
rs7977334	SPARCL1	trans	parietal	SCAN

Chromatin state (count:78 , 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	chr12:29890200-29915600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:29890600-29913000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:29897200-29916000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:29898200-29915800	Weak transcription	Liver	Liver
9	chr12:29898600-29921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:29901200-29915800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:29901600-29911600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:29902600-29915800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:29903200-29911000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:29903600-29915200	Weak transcription	Fetal Brain Female	brain
15	chr12:29903800-29915600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:29904200-29916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:29904200-29928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:29904400-29915800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:29904400-29916800	Weak transcription	Gastric	stomach
20	chr12:29904600-29927800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:29904800-29911600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:29904800-29915600	Weak transcription	Esophagus	oesophagus
23	chr12:29904800-29924200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:29905000-29915800	Weak transcription	Lung	lung
25	chr12:29905600-29915600	Weak transcription	HSMMtube	muscle
26	chr12:29906200-29911600	Strong transcription	Aorta	Aorta
27	chr12:29906400-29911000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:29906600-29915600	Weak transcription	Psoas Muscle	Psoas
29	chr12:29906600-29928400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:29906800-29910400	Weak transcription	Ovary	ovary
31	chr12:29906800-29915600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:29907200-29910400	Weak transcription	Spleen	Spleen
33	chr12:29907400-29915600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:29907600-29910600	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr12:29907600-29911400	Weak transcription	Fetal Stomach	stomach
36	chr12:29907600-29915000	Weak transcription	Right Atrium	heart
37	chr12:29907800-29914800	Weak transcription	Right Ventricle	heart
38	chr12:29908400-29915200	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:29908800-29918800	Weak transcription	Hela-S3	cervix
40	chr12:29908800-29920800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:29908800-29925000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:29909000-29911000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:29909000-29911000	Enhancers	HMEC	breast
44	chr12:29909200-29910600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:29909200-29910600	Enhancers	Osteobl	bone
46	chr12:29909200-29910800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:29909400-29910400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:29909400-29910600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:29909400-29911200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:29909400-29911400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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