Variant report

Variant	rs3768812
Chromosome Location	chr2:210555776-210555777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2663647	0.84[YRI][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	nsv875765	chr2:210537660-210618203	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009129	chr2:210550858-210681136	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv963903	chr2:210552854-210561374	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3768812	CRYGB	cis	cerebellum	SCAN
rs3768812	LASP1	trans	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210531400-210587800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:210537000-210596800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:210541800-210596400	Weak transcription	Gastric	stomach
4	chr2:210544000-210596600	Weak transcription	Ovary	ovary
5	chr2:210544400-210598600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:210546800-210560000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:210549200-210559600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:210550800-210557400	Weak transcription	Brain Anterior Caudate	brain
9	chr2:210550800-210557400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:210551400-210557600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:210551400-210561400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:210552400-210561800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:210552800-210557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:210552800-210599400	Weak transcription	Pancreas	Pancrea
15	chr2:210553000-210557200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:210553000-210557600	Weak transcription	Fetal Brain Female	brain
17	chr2:210553000-210583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:210553200-210557400	Weak transcription	HUVEC	blood vessel
19	chr2:210554200-210565400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:210554800-210557600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:210554800-210562800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:210555200-210555800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:210555200-210560000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:210555400-210555800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:210555400-210555800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:210555400-210555800	ZNF genes & repeats	Aorta	Aorta
27	chr2:210555400-210555800	Strong transcription	Brain Germinal Matrix	brain
28	chr2:210555600-210555800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:210555600-210561600	Weak transcription	Fetal Brain Male	brain
30	chr2:210555600-210600200	Weak transcription	Left Ventricle	heart

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