Variant report

Variant	rs4703840
Chromosome Location	chr5:81030061-81030062
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	chr5:81022356..81025954-chr5:81027509..81030484,4	K562	blood:
2	chr5:81029893..81032355-chr5:81038922..81041227,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12521077	0.82[CHD][hapmap]
rs12522859	0.96[ASN][1000 genomes]
rs13178641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34044243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34670701	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35170856	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35555619	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4703840	VCAN	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:81015800-81034600	Weak transcription	Left Ventricle	heart
4	chr5:81016000-81031800	Weak transcription	Ovary	ovary
5	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
6	chr5:81018000-81031600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:81018600-81033800	Weak transcription	Thymus	Thymus
8	chr5:81018600-81038400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:81020800-81039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:81021000-81033600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:81021600-81033600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:81022800-81036400	Weak transcription	Fetal Thymus	thymus
13	chr5:81023800-81031800	Weak transcription	Psoas Muscle	Psoas
14	chr5:81024000-81031800	Weak transcription	Brain Substantia Nigra	brain
15	chr5:81024000-81036400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:81024400-81030400	Weak transcription	Fetal Brain Female	brain
17	chr5:81028400-81030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:81028400-81030400	Enhancers	Dnd41	blood
19	chr5:81028600-81044200	Weak transcription	Primary B cells from cord blood	blood
20	chr5:81028800-81035600	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:81029000-81030200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:81029000-81030600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:81029200-81030200	Weak transcription	Fetal Heart	heart
24	chr5:81029200-81030400	Weak transcription	Fetal Brain Male	brain
25	chr5:81029200-81031800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:81029400-81038200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:81029600-81030400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:81029800-81030400	Enhancers	Primary T cells from cord blood	blood
29	chr5:81029800-81040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:81030000-81032000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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