Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134585220..134586106-chr6:69710636..69711412,2	MCF-7	breast:
2	chr6:69705335..69707622-chr6:69708224..69711440,3	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1006997	0.95[JPT][hapmap]
rs12213405	0.82[LWK][hapmap]
rs1283903	0.84[ASN][1000 genomes]
rs1336638	0.95[CEU][hapmap];0.86[JPT][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1336641	0.86[JPT][hapmap]
rs1336645	0.86[JPT][hapmap]
rs1336647	0.85[JPT][hapmap]
rs1336648	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1336650	0.86[JPT][hapmap]
rs1415029	0.82[LWK][hapmap]
rs1415035	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1556754	0.86[JPT][hapmap]
rs1932774	0.84[JPT][hapmap]
rs1953615	0.85[ASN][1000 genomes]
rs1999787	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2785575	0.89[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2860121	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2880587	0.86[JPT][hapmap]
rs3798969	0.82[JPT][hapmap]
rs3798974	0.86[JPT][hapmap]
rs3798979	0.81[JPT][hapmap]
rs3798991	0.86[JPT][hapmap]
rs3798992	0.86[JPT][hapmap]
rs3798993	0.86[JPT][hapmap]
rs3798999	0.84[LWK][hapmap];0.84[MEX][hapmap]
rs3823064	0.86[JPT][hapmap]
rs6899467	0.86[JPT][hapmap]
rs7757025	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs9354812	0.83[ASW][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.83[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9454661	0.86[JPT][hapmap]
rs9454674	0.82[LWK][hapmap]
rs945528	0.86[JPT][hapmap]
rs945529	0.87[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	nsv886137	chr6:69684850-70095690	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1415030	BMP15	trans	cerebellum	SCAN
rs1415030	C6orf57	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69685800-69758800	Weak transcription	Fetal Brain Male	brain
2	chr6:69688200-69721200	Weak transcription	Left Ventricle	heart
3	chr6:69692000-69716600	Weak transcription	Fetal Stomach	stomach
4	chr6:69696400-69715400	Weak transcription	Aorta	Aorta
5	chr6:69701000-69723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:69701000-69737600	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:69701200-69721200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:69701200-69724400	Weak transcription	Brain Germinal Matrix	brain
9	chr6:69702400-69728600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:69702400-69737600	Weak transcription	Brain Angular Gyrus	brain
11	chr6:69702600-69723800	Weak transcription	Brain Substantia Nigra	brain
12	chr6:69703800-69719400	Weak transcription	Fetal Brain Female	brain
13	chr6:69704800-69713000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:69704800-69721600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:69705400-69711600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:69706400-69720800	Weak transcription	Fetal Lung	lung
17	chr6:69706600-69721600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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