Variant report

Variant	rs995310
Chromosome Location	chr7:108090150-108090151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108087694..108090999-chr7:108091222..108094694,3	K562	blood:
2	chr7:108084971..108087877-chr7:108088105..108090258,2	K562	blood:
3	chr7:108089080..108090844-chr7:108114077..108117502,3	K562	blood:
4	chr7:108087694..108090660-chr7:108091222..108093377,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1014112	0.91[CHB][hapmap];0.83[CHD][hapmap]
rs10215206	0.91[CHB][hapmap]
rs10249427	0.91[CHB][hapmap];0.83[CHD][hapmap]
rs10265338	0.91[CHB][hapmap]
rs10269351	0.86[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10276271	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.91[ASN][1000 genomes]
rs1034826	0.82[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap]
rs10480679	0.91[CHB][hapmap];0.83[CHD][hapmap]
rs17155692	0.82[LWK][hapmap]
rs17155881	0.91[CHB][hapmap];0.83[CHD][hapmap]
rs1859765	0.84[GIH][hapmap]
rs1859767	0.82[CHB][hapmap]
rs2396000	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3763461	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6950872	0.95[CHB][hapmap]
rs7357276	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7802956	0.91[CHB][hapmap];0.81[CHD][hapmap]
rs9655800	0.91[CHB][hapmap];0.83[CHD][hapmap]

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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs995310	NRCAM	cis	cerebellum	SCAN
rs995310	DNAJB9	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108076200-108094800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:108088200-108091800	Enhancers	A549	lung
3	chr7:108088400-108090200	Enhancers	Fetal Lung	lung
4	chr7:108088400-108090400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:108088600-108090400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:108088800-108090200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:108088800-108090400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:108088800-108090400	Enhancers	Fetal Brain Male	brain
9	chr7:108089000-108090200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr7:108089200-108090200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:108089200-108090200	Flanking Active TSS	Fetal Brain Female	brain
12	chr7:108089200-108090800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:108089400-108090200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:108089400-108090200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:108089400-108090200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:108089400-108090200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:108089400-108090400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:108089400-108093800	Enhancers	HUVEC	blood vessel
19	chr7:108089600-108090200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:108089600-108090800	Enhancers	Fetal Intestine Large	intestine
21	chr7:108089800-108090200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:108089800-108090200	Enhancers	Brain Anterior Caudate	brain
23	chr7:108089800-108090400	Enhancers	Brain Germinal Matrix	brain
24	chr7:108089800-108090600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:108089800-108090600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr7:108089800-108091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:108089800-108091200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:108089800-108093200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:108090000-108090200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:108090000-108090200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:108090000-108090200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:108090000-108090200	Enhancers	Brain Hippocampus Middle	brain
33	chr7:108090000-108090600	Weak transcription	Brain Angular Gyrus	brain
34	chr7:108090000-108090800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:108090000-108091000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:108090000-108094600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:108090000-108095000	Weak transcription	Pancreas	Pancrea

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