Variant report

Variant	rs723340
Chromosome Location	chr7:70209637-70209638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10270627	0.89[ASN][1000 genomes]
rs10270852	0.89[ASN][1000 genomes]
rs10275085	0.82[AMR][1000 genomes]
rs10950211	0.89[ASN][1000 genomes]
rs12698933	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1569078	0.90[ASN][1000 genomes]
rs4718991	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4718992	0.91[ASN][1000 genomes]
rs4718995	0.81[AMR][1000 genomes]
rs6946969	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7777347	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7806434	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv916183	chr7:70189900-70220746	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1021274	chr7:70190293-70221743	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv607433	chr7:70190384-70223193	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1837102	chr7:70196953-70210959	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1842517	chr7:70196953-70210959	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs723340	VPS37D	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70195800-70227600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:70196200-70211600	Weak transcription	Brain Germinal Matrix	brain
3	chr7:70198400-70218000	Weak transcription	Dnd41	blood
4	chr7:70202000-70227600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:70202200-70209800	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:70202400-70213800	Weak transcription	HSMMtube	muscle
7	chr7:70202400-70217800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:70202400-70227200	Weak transcription	Brain Angular Gyrus	brain
9	chr7:70202400-70230000	Weak transcription	Fetal Thymus	thymus
10	chr7:70203400-70214200	Weak transcription	HSMM	muscle
11	chr7:70203800-70214200	Weak transcription	Gastric	stomach
12	chr7:70204200-70211200	Weak transcription	Lung	lung
13	chr7:70204200-70217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:70205400-70213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:70205400-70213600	Weak transcription	Psoas Muscle	Psoas
16	chr7:70205400-70227200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:70205600-70214400	Weak transcription	Primary T cells from cord blood	blood
18	chr7:70206000-70213600	Weak transcription	Liver	Liver
19	chr7:70206400-70217200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:70207000-70230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:70207400-70214200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:70207800-70210400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:70208000-70209800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:70208200-70210000	Enhancers	Ovary	ovary
25	chr7:70208400-70211600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:70208600-70209800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:70208600-70209800	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:70208600-70209800	Enhancers	GM12878-XiMat	blood
29	chr7:70208600-70210000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:70208600-70210000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:70208800-70209800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:70208800-70209800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:70208800-70210000	Enhancers	Fetal Brain Female	brain
34	chr7:70208800-70210200	Enhancers	Brain Anterior Caudate	brain
35	chr7:70208800-70211600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:70208800-70213600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:70209000-70210000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:70209000-70210000	Enhancers	Fetal Brain Male	brain
39	chr7:70209200-70209800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:70209200-70209800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:70209200-70209800	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr7:70209200-70209800	Enhancers	Right Atrium	heart
43	chr7:70209200-70209800	Enhancers	Right Ventricle	heart
44	chr7:70209200-70210000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:70209200-70210000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:70209200-70210000	Enhancers	Brain Hippocampus Middle	brain
47	chr7:70209200-70210000	Enhancers	Esophagus	oesophagus
48	chr7:70209400-70210400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:70209400-70213600	Weak transcription	NHEK	skin
50	chr7:70209400-70226000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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