Variant report

Variant	rs7696808
Chromosome Location	chr4:57211532-57211533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57210170..57212119-chr4:57222013..57224651,2	K562	blood:
2	chr4:57209917..57212599-chr4:57213686..57216147,2	MCF-7	breast:
3	chr4:57210332..57213092-chr4:57213871..57215383,2	K562	blood:

Variant related genes	Relation type
ENSG00000242083	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10008223	0.93[EUR][1000 genomes]
rs10010544	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10013402	0.93[EUR][1000 genomes]
rs10434444	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[EUR][1000 genomes]
rs10461357	0.87[EUR][1000 genomes]
rs1060472	0.86[TSI][hapmap];0.85[YRI][hapmap]
rs11133442	0.85[TSI][hapmap]
rs11133443	1.00[CEU][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1124569	0.87[EUR][1000 genomes]
rs11723782	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12498340	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]
rs12512742	0.85[EUR][1000 genomes]
rs12645138	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1401906	0.90[YRI][hapmap]
rs17086696	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]
rs1983378	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes]
rs2030366	0.89[EUR][1000 genomes]
rs2049088	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2271925	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28510634	0.93[EUR][1000 genomes]
rs34510373	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3796548	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822001	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4263445	0.88[EUR][1000 genomes]
rs4565139	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4864579	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[EUR][1000 genomes]
rs4864580	0.91[EUR][1000 genomes]
rs4864583	0.84[YRI][hapmap]
rs4865088	0.92[EUR][1000 genomes]
rs4865089	0.89[EUR][1000 genomes]
rs4865092	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs5010012	0.83[YRI][hapmap]
rs56066795	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56356367	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56672277	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56887793	0.91[EUR][1000 genomes]
rs59997251	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60104031	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61032900	0.92[EUR][1000 genomes]
rs6554344	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67343558	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67721941	0.86[ASN][1000 genomes]
rs67957495	0.92[EUR][1000 genomes]
rs6820279	0.92[EUR][1000 genomes]
rs6836118	1.00[CEU][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.84[ASN][1000 genomes]
rs6853418	0.88[ASN][1000 genomes]
rs73167398	0.86[ASN][1000 genomes]
rs7664841	0.86[TSI][hapmap]
rs7670991	0.93[EUR][1000 genomes]
rs7693372	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8340	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7696808	SRP72	cis	normal skin	skin_eQTL
rs7696808	AASDH	cis	parietal	SCAN
rs7696808	SRP72	Cis_1M	lymphoblastoid	RTeQTL
rs7696808	AASDH	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57167800-57218600	Weak transcription	Small Intestine	intestine
2	chr4:57177600-57215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:57178200-57211800	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:57190400-57214400	Weak transcription	Brain Anterior Caudate	brain
5	chr4:57190600-57214600	Weak transcription	Brain Substantia Nigra	brain
6	chr4:57190600-57252400	Weak transcription	Colonic Mucosa	Colon
7	chr4:57193600-57213000	Weak transcription	Left Ventricle	heart
8	chr4:57195000-57214400	Weak transcription	Placenta	Placenta
9	chr4:57195200-57238000	Weak transcription	HUVEC	blood vessel
10	chr4:57196000-57238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:57198800-57214400	Weak transcription	Gastric	stomach
12	chr4:57201800-57212000	Weak transcription	Adipose Nuclei	Adipose
13	chr4:57202000-57212000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:57202600-57221400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:57202800-57252400	Weak transcription	NHDF-Ad	bronchial
16	chr4:57203000-57252600	Weak transcription	Right Ventricle	heart
17	chr4:57203200-57215000	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:57203200-57215600	Weak transcription	Pancreas	Pancrea
19	chr4:57203200-57235200	Weak transcription	Osteobl	bone
20	chr4:57203200-57251800	Weak transcription	A549	lung
21	chr4:57203400-57212800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:57203400-57252400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:57203600-57213600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:57203600-57213600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:57203600-57214400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:57203600-57229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:57204000-57216800	Weak transcription	Hela-S3	cervix
28	chr4:57204000-57252200	Weak transcription	NH-A	brain
29	chr4:57204200-57211800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:57204200-57212800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:57204200-57213400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:57204200-57213800	Weak transcription	Aorta	Aorta
33	chr4:57204200-57213800	Weak transcription	Lung	lung
34	chr4:57204200-57214400	Weak transcription	Primary B cells from cord blood	blood
35	chr4:57204200-57214400	Weak transcription	Fetal Thymus	thymus
36	chr4:57204200-57214400	Weak transcription	Dnd41	blood
37	chr4:57204200-57222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:57204200-57227200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:57204200-57252200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:57204400-57212600	Weak transcription	Primary T cells from cord blood	blood
41	chr4:57204400-57214400	Weak transcription	Brain Angular Gyrus	brain
42	chr4:57204800-57211800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:57204800-57212200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:57204800-57212200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr4:57204800-57212800	Weak transcription	Fetal Stomach	stomach
46	chr4:57204800-57213000	Weak transcription	Fetal Brain Female	brain
47	chr4:57204800-57214400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:57204800-57214400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:57204800-57214400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:57204800-57214400	Weak transcription	Rectal Mucosa Donor 29	rectum

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