Variant report

Variant	rs7779296
Chromosome Location	chr7:6779270-6779271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10215807	0.82[ASN][1000 genomes]
rs10236353	0.81[ASN][1000 genomes]
rs10244591	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10263771	0.84[ASN][1000 genomes]
rs10272921	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10441131	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10951994	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12113879	0.84[ASN][1000 genomes]
rs12534591	0.82[ASN][1000 genomes]
rs12535850	0.81[ASN][1000 genomes]
rs12536067	0.88[ASN][1000 genomes]
rs12536107	0.91[ASN][1000 genomes]
rs12537448	1.00[JPT][hapmap]
rs12537487	0.81[ASN][1000 genomes]
rs12539942	0.84[ASN][1000 genomes]
rs12540797	0.81[ASN][1000 genomes]
rs12673800	0.84[CHD][hapmap];0.92[JPT][hapmap]
rs13224907	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs13247186	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2462654	0.83[ASN][1000 genomes]
rs28494902	0.89[ASN][1000 genomes]
rs28649084	0.84[ASN][1000 genomes]
rs2881352	0.91[JPT][hapmap]
rs34857592	0.92[ASN][1000 genomes]
rs34899283	0.93[ASN][1000 genomes]
rs35121012	0.94[ASN][1000 genomes]
rs35291651	0.95[ASN][1000 genomes]
rs35644498	0.88[ASN][1000 genomes]
rs35768299	0.88[ASN][1000 genomes]
rs3757481	0.92[JPT][hapmap]
rs3801033	0.89[CHD][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap]
rs3801038	1.00[JPT][hapmap]
rs3801039	0.90[JPT][hapmap]
rs4724766	0.91[ASN][1000 genomes]
rs62439727	0.92[ASN][1000 genomes]
rs62439728	0.83[ASN][1000 genomes]
rs62439731	0.84[ASN][1000 genomes]
rs62439737	0.95[ASN][1000 genomes]
rs62439738	0.88[ASN][1000 genomes]
rs62439743	0.91[ASN][1000 genomes]
rs6463576	0.87[CHD][hapmap];0.92[JPT][hapmap]
rs6463579	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6463580	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6944332	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs6953825	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6954172	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6964276	0.86[AMR][1000 genomes]
rs6966713	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6971621	0.88[JPT][hapmap]
rs6974325	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs6979127	1.00[JPT][hapmap]
rs7784521	0.87[ASN][1000 genomes]
rs7789640	0.82[ASN][1000 genomes]
rs7792579	0.84[ASN][1000 genomes]
rs7792858	0.84[ASN][1000 genomes]
rs7796846	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7798471	0.89[CHD][hapmap];0.92[JPT][hapmap];0.83[TSI][hapmap]
rs7804259	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7804542	0.94[ASN][1000 genomes]
rs9639027	0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv887450	chr7:6779270-6919214	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv887451	chr7:6779270-6985071	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7779296	C7orf28B	cis	multi-tissue	Pritchard
rs7779296	PAQR5	trans	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6770000-6783400	Weak transcription	Aorta	Aorta
2	chr7:6770200-6782600	Weak transcription	Small Intestine	intestine
3	chr7:6770400-6784800	Weak transcription	NHLF	lung
4	chr7:6770800-6786400	Weak transcription	Fetal Brain Male	brain
5	chr7:6771000-6782000	Strong transcription	Fetal Stomach	stomach
6	chr7:6771000-6786200	Weak transcription	HUVEC	blood vessel
7	chr7:6771000-6786400	Weak transcription	Primary B cells from cord blood	blood
8	chr7:6771200-6780200	Weak transcription	Right Atrium	heart
9	chr7:6771200-6781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:6771200-6792400	Weak transcription	NHEK	skin
11	chr7:6771600-6781800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:6771800-6780400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:6771800-6783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:6772000-6780400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr7:6772000-6780400	Strong transcription	Fetal Thymus	thymus
16	chr7:6772000-6781600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:6772000-6782000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:6772000-6782600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:6772000-6782600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:6772200-6780600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6772400-6780600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:6772400-6780600	Strong transcription	Placenta	Placenta
23	chr7:6772400-6783200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:6772600-6780400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:6772800-6787000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:6773000-6783200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:6773000-6786400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:6773200-6780200	Strong transcription	Lung	lung
29	chr7:6773400-6788200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:6773600-6784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:6774000-6782000	Weak transcription	Hela-S3	cervix
32	chr7:6774600-6780400	Strong transcription	Adipose Nuclei	Adipose
33	chr7:6774600-6780400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr7:6775400-6781800	Weak transcription	HMEC	breast
35	chr7:6775800-6785000	Weak transcription	NH-A	brain
36	chr7:6776200-6783200	Weak transcription	Right Ventricle	heart
37	chr7:6777000-6780200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:6777200-6780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:6777200-6784000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:6777200-6784800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:6777200-6785000	Weak transcription	HSMM	muscle
42	chr7:6777200-6786600	Weak transcription	HSMMtube	muscle
43	chr7:6777400-6779400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:6777400-6779600	Weak transcription	Thymus	Thymus
45	chr7:6777400-6779800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:6777400-6779800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:6777400-6779800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:6777400-6779800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:6777400-6780400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:6777400-6781800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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