Variant report

Variant	rs648831
Chromosome Location	chr6:80956208-80956209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80951610..80958338-chr6:80959333..80963216,7	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1408292	0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs2256531	0.93[LWK][hapmap]
rs2322635	0.94[LWK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs2476826	0.94[LWK][hapmap];0.88[YRI][hapmap]
rs2490239	0.87[LWK][hapmap]
rs2490244	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs2490245	0.94[LWK][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs2490250	0.86[AFR][1000 genomes]
rs3805913	0.94[LWK][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs583426	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs590641	1.00[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs682482	0.86[AFR][1000 genomes]
rs684251	1.00[YRI][hapmap]
rs684283	1.00[YRI][hapmap]
rs688867	0.84[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7771645	0.88[YRI][hapmap]
rs806783	0.84[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9294172	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs9341806	0.88[YRI][hapmap]
rs9448911	0.94[LWK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830708	chr6:80844283-80996876	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv886309	chr6:80880138-80959885	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886310	chr6:80880138-81025879	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1033452	chr6:80888667-81000213	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs648831	PHIP	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80914600-80980400	Weak transcription	Ovary	ovary
2	chr6:80921400-80973200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:80922200-80964200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:80924000-80968400	Weak transcription	Gastric	stomach
5	chr6:80924000-80976000	Weak transcription	HSMM	muscle
6	chr6:80927800-80959800	Weak transcription	Aorta	Aorta
7	chr6:80929400-80969200	Weak transcription	Left Ventricle	heart
8	chr6:80938000-80956800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:80939000-80974800	Weak transcription	Primary T cells from cord blood	blood
10	chr6:80939200-80959600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:80940600-80964200	Weak transcription	Liver	Liver
12	chr6:80944000-80960000	Weak transcription	Psoas Muscle	Psoas
13	chr6:80944000-80982800	Weak transcription	Pancreas	Pancrea
14	chr6:80944400-80961600	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:80944600-80977200	Weak transcription	Fetal Stomach	stomach
16	chr6:80945800-80956400	Weak transcription	Fetal Heart	heart
17	chr6:80951400-80959800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:80952200-80956600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:80952800-80960200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:80953800-80957000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:80954400-80960000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:80956000-80956600	Enhancers	Right Atrium	heart
23	chr6:80956000-80957600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:80956000-80957800	Enhancers	Brain Substantia Nigra	brain
25	chr6:80956000-80958200	Weak transcription	K562	blood
26	chr6:80956200-80956600	Strong transcription	Lung	lung

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