Variant report

Variant	rs334630
Chromosome Location	chr2:179151715-179151716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179150083..179151979-chr2:179155800..179158067,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1434080	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs333992	0.82[JPT][hapmap]
rs333993	0.82[JPT][hapmap]
rs333995	0.82[JPT][hapmap]
rs334604	0.82[JPT][hapmap]
rs334616	0.88[JPT][hapmap]
rs334620	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs334622	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334623	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs334624	0.81[ASN][1000 genomes]
rs334631	0.81[ASN][1000 genomes]
rs6756651	0.81[JPT][hapmap]
rs7587549	1.00[JPT][hapmap]
rs7599683	0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs9288017	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs334630	LOC100130691	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143000-179160200	Weak transcription	Fetal Kidney	kidney
2	chr2:179143200-179160800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:179144200-179163800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:179144400-179153000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:179144400-179154600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179144600-179155000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:179145000-179159200	Weak transcription	Liver	Liver
9	chr2:179147400-179152000	Weak transcription	NH-A	brain
10	chr2:179147400-179153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:179147400-179162600	Weak transcription	HMEC	breast
12	chr2:179147400-179163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:179147400-179163000	Weak transcription	NHEK	skin
14	chr2:179147800-179162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:179148000-179152600	Weak transcription	Right Ventricle	heart
16	chr2:179149800-179152000	Weak transcription	HUVEC	blood vessel
17	chr2:179150000-179152000	Weak transcription	K562	blood
18	chr2:179150000-179152200	Weak transcription	Fetal Intestine Large	intestine
19	chr2:179150200-179153000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:179150200-179160800	Weak transcription	Psoas Muscle	Psoas
21	chr2:179150600-179160600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:179150800-179152400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:179151400-179151800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:179151600-179153200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:179151600-179160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:179151600-179161200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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