Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:32775235..32777480-chr14:32786889..32788740,2	MCF-7	breast:
2	chr14:32775655..32778272-chr14:32848562..32851127,2	MCF-7	breast:
3	chr14:32775468..32778103-chr14:32779156..32781428,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1007279	0.83[CEU][hapmap]
rs2208869	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981953	0.83[CEU][hapmap]
rs4981956	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6571502	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6571507	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7144586	0.83[CEU][hapmap]
rs7160483	0.83[CEU][hapmap]
rs8005191	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012126	0.85[EUR][1000 genomes]
rs8023125	0.97[AMR][1000 genomes];0.97[EUR][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	nsv901594	chr14:32772850-32786268	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2383310	AKAP6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32768000-32780000	Weak transcription	Psoas Muscle	Psoas
2	chr14:32768600-32776600	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:32769800-32777200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:32769800-32780800	Weak transcription	Left Ventricle	heart
5	chr14:32772800-32778400	Enhancers	Fetal Intestine Large	intestine
6	chr14:32773600-32776800	Weak transcription	Fetal Heart	heart
7	chr14:32773800-32776200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:32773800-32776600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:32773800-32776800	Weak transcription	HepG2	liver
10	chr14:32774000-32776400	Weak transcription	Liver	Liver
11	chr14:32774000-32778200	Weak transcription	Pancreas	Pancrea
12	chr14:32775400-32778400	Enhancers	Fetal Intestine Small	intestine
13	chr14:32775600-32777800	Enhancers	NHEK	skin
14	chr14:32775800-32776200	Enhancers	A549	lung
15	chr14:32775800-32777000	Enhancers	HMEC	breast
16	chr14:32775800-32777800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:32775800-32777800	Enhancers	Hela-S3	cervix
18	chr14:32776000-32776200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr14:32776000-32776800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:32776000-32777400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:32776000-32777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:32776000-32777600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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