Variant report

Variant	rs7665811
Chromosome Location	chr4:76633325-76633326
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	chr4:76498276..76499263-chr4:76633255..76634192,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10004891	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10020040	0.81[ASN][1000 genomes]
rs10856855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10856857	0.89[AMR][1000 genomes]
rs11097050	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11097051	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11729983	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11731107	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11731569	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12233785	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12647909	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13103092	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13124724	0.86[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes]
rs13134512	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13135568	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13148199	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13152407	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17280938	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17284996	0.80[AMR][1000 genomes]
rs2055998	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2137429	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28693963	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28709419	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35443067	0.87[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap]
rs36024100	0.81[EUR][1000 genomes]
rs3796479	0.86[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes]
rs4859966	0.87[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap]
rs9306994	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9306995	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9994998	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7665811	FAM47E	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
2	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
4	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
6	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:76607400-76640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:76613800-76639000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:76613800-76639600	Weak transcription	Ovary	ovary
10	chr4:76615600-76639800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:76615600-76639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:76615800-76639000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:76616000-76640000	Weak transcription	Lung	lung
14	chr4:76618200-76635000	Weak transcription	Adipose Nuclei	Adipose
15	chr4:76618400-76639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:76619400-76633400	Weak transcription	Fetal Kidney	kidney
17	chr4:76620000-76640000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:76620400-76639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:76620600-76640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:76621000-76640600	Weak transcription	Right Ventricle	heart
21	chr4:76621800-76642400	Weak transcription	Left Ventricle	heart
22	chr4:76622000-76639400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:76622200-76639800	Weak transcription	HSMMtube	muscle
24	chr4:76623800-76647600	Weak transcription	Fetal Heart	heart
25	chr4:76624200-76640600	Weak transcription	Fetal Thymus	thymus
26	chr4:76624400-76633400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:76624400-76647200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:76624400-76647800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:76624600-76634600	Weak transcription	Primary B cells from cord blood	blood
30	chr4:76624600-76646800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:76624800-76634600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr4:76624800-76634600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:76624800-76634600	Weak transcription	GM12878-XiMat	blood
34	chr4:76624800-76634800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:76624800-76647600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:76628000-76639800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:76628400-76639600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:76628600-76633400	Weak transcription	Psoas Muscle	Psoas
39	chr4:76628600-76633400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:76628600-76640000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:76628800-76635600	Weak transcription	A549	lung
42	chr4:76628800-76642200	Weak transcription	Fetal Stomach	stomach
43	chr4:76629000-76635000	Weak transcription	Liver	Liver
44	chr4:76629000-76635400	Weak transcription	K562	blood
45	chr4:76629200-76640000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:76629200-76640400	Weak transcription	HepG2	liver
47	chr4:76629400-76635400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:76629400-76640000	Weak transcription	Fetal Lung	lung
49	chr4:76631000-76635200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:76631000-76639600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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