Variant report

Variant	rs6964136
Chromosome Location	chr7:63990100-63990101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1018582	0.97[ASN][1000 genomes]
rs10228292	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10238197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10243803	0.98[ASN][1000 genomes]
rs10243954	1.00[ASN][1000 genomes]
rs10263122	0.98[ASN][1000 genomes]
rs10264404	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10275385	0.85[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11972331	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12112962	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13221648	0.97[ASN][1000 genomes]
rs13225044	0.84[EUR][1000 genomes]
rs13238485	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13247377	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1853408	0.95[ASN][1000 genomes]
rs1867918	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs1885912	0.98[ASN][1000 genomes]
rs1885913	0.98[ASN][1000 genomes]
rs2862877	0.87[AMR][1000 genomes]
rs4278060	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4368861	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718084	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718090	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6460158	0.98[ASN][1000 genomes]
rs649475	0.83[GIH][hapmap];0.91[MKK][hapmap]
rs6949671	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6953428	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6960561	0.98[ASN][1000 genomes]
rs6961214	0.98[ASN][1000 genomes]
rs6963061	0.97[ASN][1000 genomes]
rs7777673	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7778300	0.96[ASN][1000 genomes]
rs7786115	1.00[ASN][1000 genomes]
rs7789461	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7793298	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7796448	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7800031	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
11	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
12	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv970855	chr7:63959414-64023731	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
17	nsv888272	chr7:63973216-64004876	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1833009	chr7:63980233-64002859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
20	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
21	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
22	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6964136	ASL	cis	parietal	SCAN
rs6964136	ZNF680	cis	parietal	SCAN
rs6964136	ZNF117	cis	parietal	SCAN
rs6964136	CRCP	cis	parietal	SCAN
rs6964136	ERV3	cis	cerebellum	SCAN
rs6964136	CRCP	cis	cerebellum	SCAN
rs6964136	ZNF107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63964600-63997800	ZNF genes & repeats	Liver	Liver
2	chr7:63965000-63994800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:63966200-63997400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:63974400-64020000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:63978200-64022200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:63981000-63991000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
7	chr7:63981400-63991000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:63982000-64001800	Weak transcription	NH-A	brain
9	chr7:63983800-63990800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:63984200-63990400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr7:63984400-63990800	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr7:63984400-63992800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:63984600-63994600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr7:63984800-63990200	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr7:63984800-63990600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr7:63984800-63990800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr7:63986600-63998600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr7:63986600-64001800	Weak transcription	Fetal Heart	heart
19	chr7:63986800-63992200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr7:63987200-63991000	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr7:63987400-63990200	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr7:63987400-63992000	Weak transcription	NHLF	lung
23	chr7:63987800-64000200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr7:63988000-63991000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
25	chr7:63988000-63991600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr7:63988000-63991800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr7:63988000-63991800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:63988000-63992200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr7:63988400-63990800	Strong transcription	Brain Hippocampus Middle	brain
30	chr7:63988400-63996600	Weak transcription	HSMMtube	muscle
31	chr7:63988400-64011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:63988600-63993200	Weak transcription	Psoas Muscle	Psoas
33	chr7:63988600-63996000	Weak transcription	Osteobl	bone
34	chr7:63988600-64002000	Weak transcription	Brain Angular Gyrus	brain
35	chr7:63988800-63990600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:63988800-63996400	Weak transcription	Hela-S3	cervix
37	chr7:63989000-63990400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:63989000-63996600	Weak transcription	HepG2	liver
39	chr7:63989000-64009800	Weak transcription	K562	blood
40	chr7:63989200-63997200	Weak transcription	Left Ventricle	heart
41	chr7:63989200-64001800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:63989200-64003200	Weak transcription	Placenta	Placenta
43	chr7:63989200-64005400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:63989200-64007600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:63989200-64011600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:63989200-64022600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:63989400-63990600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:63989400-63990600	Weak transcription	Fetal Lung	lung
49	chr7:63989400-63991400	Weak transcription	Fetal Kidney	kidney
50	chr7:63989400-63992200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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