Variant report

Variant	rs634413
Chromosome Location	chr13:30516082-30516083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30512486..30516242-chr13:30529306..30532066,3	K562	blood:
2	chr13:30513452..30517431-chr13:30524367..30526986,3	MCF-7	breast:
3	chr13:30494281..30495981-chr13:30514922..30517429,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1041577	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs12583831	0.88[ASN][1000 genomes]
rs1359475	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs17074100	0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[ASN][1000 genomes]
rs17074118	0.82[CHB][hapmap];0.82[CHD][hapmap];0.85[ASN][1000 genomes]
rs17074120	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs4318068	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4769779	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4769780	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4769781	0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4769782	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs4769783	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs585668	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61138957	0.90[ASN][1000 genomes]
rs646917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490437	0.81[EUR][1000 genomes]
rs7322038	0.82[CEU][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7339208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988422	0.82[ASN][1000 genomes]
rs7994222	0.85[CHD][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs843883	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs912788	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9314990	0.89[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9314991	0.89[CEU][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9506244	0.89[CEU][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9508594	0.85[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs634413	SH3BGRL2	trans	cerebellum	SCAN
rs634413	MTIF3	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30510800-30521600	Weak transcription	Pancreas	Pancrea
2	chr13:30512400-30518400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:30513000-30517200	Weak transcription	Primary T cells from cord blood	blood
4	chr13:30514000-30517600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr13:30514000-30518000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr13:30514000-30522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:30514200-30517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:30514400-30516400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:30514800-30516400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:30515200-30518000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:30515400-30517000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:30515600-30517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:30515800-30516400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:30515800-30517000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr13:30515800-30517800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:30516000-30516600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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