Variant report

Variant	rs3005182
Chromosome Location	chr10:25784552-25784553
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	chr10:25782933..25784846-chr10:25796060..25798061,2	K562	blood:
2	chr10:25781802..25784732-chr10:25785039..25787910,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10508695	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs10508696	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs11014576	0.82[ASN][1000 genomes]
rs12415532	0.83[JPT][hapmap]
rs12766947	0.82[ASN][1000 genomes]
rs12778509	0.82[ASN][1000 genomes]
rs1329255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1329256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1329257	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1360123	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1361634	0.85[CEU][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs1410931	0.82[CEU][hapmap]
rs1590833	0.83[JPT][hapmap]
rs1592137	0.82[JPT][hapmap]
rs1620326	0.81[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs1773637	0.85[CEU][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1928365	0.81[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2480348	0.82[CEU][hapmap]
rs2480349	0.83[ASN][1000 genomes]
rs2487819	0.85[CEU][hapmap];0.80[MEX][hapmap]
rs2987832	0.83[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2987833	0.83[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2987834	0.83[ASN][1000 genomes]
rs2987835	0.83[ASN][1000 genomes]
rs2987836	0.83[ASN][1000 genomes]
rs2987838	0.92[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2987839	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2987840	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005184	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3005185	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3005187	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3005189	0.83[ASN][1000 genomes]
rs3005191	0.85[CEU][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs3005193	0.83[CEU][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34535236	0.82[ASN][1000 genomes]
rs3886350	0.81[CEU][hapmap]
rs57048226	0.82[ASN][1000 genomes]
rs66516873	0.82[ASN][1000 genomes]
rs67290477	0.82[ASN][1000 genomes]
rs67616835	0.82[ASN][1000 genomes]
rs702980	0.82[CEU][hapmap];0.92[JPT][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs7084979	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7085111	0.82[ASN][1000 genomes]
rs7089568	0.82[ASN][1000 genomes]
rs824588	0.82[CEU][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs824589	0.81[CEU][hapmap]
rs824607	0.82[CEU][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs824608	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs824609	0.85[CEU][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs824610	0.85[CEU][hapmap];0.92[JPT][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	esv3349863	chr10:25614571-25946379	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3005182	BAMBI	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25781400-25785000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:25781600-25788200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:25782200-25788200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:25782400-25792200	Weak transcription	Brain Anterior Caudate	brain
5	chr10:25782800-25785200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:25782800-25785600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:25782800-25786200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:25783000-25785200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:25783000-25788400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr10:25783200-25784800	Weak transcription	Fetal Heart	heart
11	chr10:25783200-25784800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:25783200-25785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:25783200-25786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:25783200-25788400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:25783200-25788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:25783200-25797200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:25783600-25785400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr10:25783600-25788200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:25784000-25785000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:25784000-25785000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:25784000-25785200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:25784000-25785200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr10:25784000-25788400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:25784200-25788600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr10:25784400-25785400	Weak transcription	K562	blood

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