Variant report

Variant	rs4730487
Chromosome Location	chr7:78380016-78380017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10242583	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10244070	0.81[TSI][hapmap]
rs10485917	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10485918	0.85[ASN][1000 genomes]
rs10485920	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10953686	0.93[ASN][1000 genomes]
rs11760265	0.85[ASN][1000 genomes]
rs11762589	0.85[ASN][1000 genomes]
rs1207866	0.86[TSI][hapmap]
rs1207867	0.85[TSI][hapmap]
rs1207873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1207894	0.91[TSI][hapmap]
rs12705771	0.91[TSI][hapmap]
rs16886300	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16886301	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16886304	0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16886321	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17151403	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17151416	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17151445	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2525808	0.86[TSI][hapmap]
rs34048176	0.95[ASN][1000 genomes]
rs37848	0.86[TSI][hapmap]
rs37850	0.86[TSI][hapmap]
rs37853	0.88[JPT][hapmap]
rs4370470	0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs58148748	0.88[ASN][1000 genomes]
rs73152428	0.87[ASN][1000 genomes]
rs73152456	0.89[ASN][1000 genomes]
rs739897	0.98[ASN][1000 genomes]
rs7789893	0.88[ASN][1000 genomes]
rs7790100	0.88[ASN][1000 genomes]
rs7810385	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs877682	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4730487	CCL26	cis	cerebellum	SCAN
rs4730487	YWHAG	cis	cerebellum	SCAN
rs4730487	STYXL1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78363600-78380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:78372400-78391600	Weak transcription	Pancreas	Pancrea
3	chr7:78372400-78395200	Weak transcription	Aorta	Aorta
4	chr7:78375800-78381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:78376000-78380600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:78376000-78384600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:78377200-78381000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:78377200-78384000	Weak transcription	Psoas Muscle	Psoas
9	chr7:78377200-78385400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:78377400-78380600	Weak transcription	Brain Anterior Caudate	brain
11	chr7:78378000-78381000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:78378800-78380200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:78378800-78381200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:78379000-78380400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:78379000-78380800	Weak transcription	Brain Angular Gyrus	brain
16	chr7:78379000-78380800	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:78379000-78381000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:78379200-78380200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:78379200-78382800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:78379600-78380400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:78379800-78380200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:78380000-78385200	Weak transcription	H9 Cell Line	embryonic stem cell

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