Variant report

Variant	rs7719354
Chromosome Location	chr5:107285619-107285620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107285431..107288026-chr5:107290064..107292465,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10063386	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10070756	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1025493	0.91[CHB][hapmap];0.91[CHD][hapmap];0.80[ASN][1000 genomes]
rs1025494	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs11745399	0.86[CHB][hapmap]
rs12659389	0.82[ASN][1000 genomes]
rs12659811	0.82[ASN][1000 genomes]
rs13153403	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs2116822	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2116823	0.81[JPT][hapmap]
rs6596762	0.85[JPT][hapmap]
rs6886275	0.81[JPT][hapmap]
rs6896080	0.85[JPT][hapmap]
rs9328025	0.86[CHB][hapmap];0.83[CHD][hapmap];0.80[JPT][hapmap]
rs9328026	0.86[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap]
rs967489	0.86[CHD][hapmap];0.85[JPT][hapmap];0.80[MEX][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	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7719354	TMEM232	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107261400-107286600	Weak transcription	Aorta	Aorta
2	chr5:107273600-107287800	Weak transcription	Gastric	stomach
3	chr5:107273800-107286600	Weak transcription	Right Atrium	heart
4	chr5:107274000-107286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:107274600-107290000	Weak transcription	Fetal Brain Female	brain
6	chr5:107275200-107286600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:107275200-107286600	Weak transcription	Lung	lung
8	chr5:107278000-107287200	Weak transcription	Pancreas	Pancrea
9	chr5:107283200-107294400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:107284400-107286600	Weak transcription	Psoas Muscle	Psoas
11	chr5:107284400-107289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:107284400-107290000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:107284400-107292600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:107284600-107286600	Weak transcription	Left Ventricle	heart
15	chr5:107284600-107286800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:107285000-107286800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:107285200-107286000	Flanking Active TSS	Dnd41	blood
18	chr5:107285200-107287000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:107285200-107287400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:107285200-107287600	Enhancers	Fetal Thymus	thymus
21	chr5:107285200-107287600	Enhancers	Thymus	Thymus
22	chr5:107285400-107285800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr5:107285400-107285800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr5:107285600-107285800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:107285600-107285800	Flanking Active TSS	NHDF-Ad	bronchial
26	chr5:107285600-107286400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:107285600-107286400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:107285600-107287200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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