Variant report

Variant	rs6996048
Chromosome Location	chr8:66744735-66744736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66736038..66738314-chr8:66742925..66745716,2	K562	blood:
2	chr8:66721308..66723054-chr8:66742310..66745275,2	K562	blood:
3	chr8:66742670..66744931-chr8:66747437..66750078,2	K562	blood:
4	chr8:66744581..66746108-chr8:66920937..66922823,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11995869	1.00[CEU][hapmap]
rs16932346	0.81[CEU][hapmap]
rs17304488	0.81[AMR][1000 genomes]
rs17304551	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17304921	1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17394294	0.81[AMR][1000 genomes]
rs17395190	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17395394	0.81[AMR][1000 genomes]
rs17395656	0.81[AMR][1000 genomes]
rs17395816	1.00[MEX][hapmap]
rs17395851	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17395878	0.81[AMR][1000 genomes]
rs17395920	0.81[AMR][1000 genomes]
rs17396004	1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17396066	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17396192	0.89[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35688380	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3935203	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4392943	0.81[AMR][1000 genomes]
rs58213885	0.90[EUR][1000 genomes]
rs6980516	1.00[YRI][hapmap]
rs6980588	1.00[YRI][hapmap]
rs6980746	1.00[YRI][hapmap]
rs7001138	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829484	0.81[CEU][hapmap]

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	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6996048	LIPG	trans	lymphoblastoid	seeQTL
rs6996048	MTFR1	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66719400-66750000	Weak transcription	Hela-S3	cervix
2	chr8:66720400-66744800	Weak transcription	NHEK	skin
3	chr8:66725200-66747000	Weak transcription	NHDF-Ad	bronchial
4	chr8:66725400-66751200	Weak transcription	Fetal Heart	heart
5	chr8:66729000-66744800	Weak transcription	Gastric	stomach
6	chr8:66729400-66744800	Weak transcription	Spleen	Spleen
7	chr8:66729400-66749400	Weak transcription	Fetal Brain Male	brain
8	chr8:66731000-66752600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:66731600-66752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:66731800-66752600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:66732400-66745000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:66732400-66745000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:66732600-66751000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:66732600-66751000	Weak transcription	Fetal Lung	lung
15	chr8:66733000-66752000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:66734800-66749000	Weak transcription	Small Intestine	intestine
17	chr8:66734800-66752600	Weak transcription	Left Ventricle	heart
18	chr8:66735000-66746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:66735000-66746600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:66738400-66746000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:66738400-66746600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:66738600-66744800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:66738600-66752600	Weak transcription	Pancreas	Pancrea
24	chr8:66739200-66744800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:66739400-66745000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:66739400-66745000	Weak transcription	Thymus	Thymus
27	chr8:66739600-66744800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:66739600-66744800	Weak transcription	Fetal Thymus	thymus
29	chr8:66739600-66749000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:66740200-66745000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:66740200-66745200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:66740200-66745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:66740200-66745800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:66740200-66749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:66740200-66752400	Weak transcription	Fetal Kidney	kidney
36	chr8:66740600-66746800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr8:66741200-66746600	Weak transcription	A549	lung
38	chr8:66741400-66747800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:66741600-66745200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr8:66741800-66745000	Genic enhancers	Dnd41	blood
41	chr8:66742000-66745800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:66742200-66744800	Weak transcription	Brain Anterior Caudate	brain
43	chr8:66742200-66746400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:66742200-66752200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:66742400-66744800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:66742400-66744800	Weak transcription	HMEC	breast
47	chr8:66742400-66746600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:66742400-66746600	Weak transcription	Brain Substantia Nigra	brain
49	chr8:66742400-66747000	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:66742400-66749800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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