Variant report

Variant	rs7805441
Chromosome Location	chr7:78121458-78121459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10260232	1.00[CEU][hapmap];0.80[GIH][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs2052244	0.93[ASN][1000 genomes]
rs2110630	0.89[LWK][hapmap];1.00[YRI][hapmap]
rs2192649	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35114939	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4421288	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4730332	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730343	0.87[YRI][hapmap]
rs4730345	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs6466258	0.87[YRI][hapmap]
rs7787798	0.83[AFR][1000 genomes]
rs7789112	0.91[ASW][hapmap];0.86[CHB][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]

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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7805441	WBSCR16	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78114800-78127800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:78116600-78125600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:78118600-78123400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:78119000-78122000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:78119200-78122000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:78119400-78121600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:78119400-78122000	Enhancers	Brain Germinal Matrix	brain
8	chr7:78119400-78122000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:78119400-78122200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:78119400-78123000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:78119400-78125200	Weak transcription	Fetal Brain Female	brain
12	chr7:78119400-78125800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:78119400-78128000	Enhancers	Brain Substantia Nigra	brain
14	chr7:78119400-78130200	Weak transcription	Aorta	Aorta
15	chr7:78119600-78121600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:78119600-78122600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:78119600-78123200	Enhancers	Brain Angular Gyrus	brain
18	chr7:78119600-78124000	Enhancers	Brain Hippocampus Middle	brain
19	chr7:78119600-78145600	Weak transcription	Ovary	ovary
20	chr7:78119800-78128400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:78119800-78132400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:78120000-78122000	Enhancers	Fetal Brain Male	brain
23	chr7:78120200-78121800	Weak transcription	Fetal Heart	heart
24	chr7:78120200-78122600	Weak transcription	Psoas Muscle	Psoas
25	chr7:78120200-78123600	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:78120400-78122000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:78120400-78122600	Enhancers	Brain Anterior Caudate	brain
28	chr7:78120400-78122600	Weak transcription	Fetal Kidney	kidney
29	chr7:78120800-78125000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:78121200-78122400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:78121400-78121800	Enhancers	H1 Cell Line	embryonic stem cell

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