Variant report

Variant	rs35245353
Chromosome Location	chr4:152193439-152193440
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:152193164-152193496	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
PRSS48	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10006091	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10011948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10012999	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10015834	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10016704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10019075	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10031618	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10031902	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857257	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11099797	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11099798	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11099799	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11099801	0.94[EUR][1000 genomes]
rs11099802	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11721421	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11726496	0.85[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11729901	0.93[EUR][1000 genomes]
rs11730707	0.94[EUR][1000 genomes]
rs11733473	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733501	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733600	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11734518	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11734727	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11735681	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12501397	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12505382	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12508449	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17590780	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2291978	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2407166	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28650996	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28651657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28760401	0.82[EUR][1000 genomes]
rs28767036	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3990708	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4339187	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4417949	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4473634	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55812154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55855806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55869644	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs55905531	0.87[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs56220030	0.97[EUR][1000 genomes]
rs62328350	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62328351	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62328353	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6535780	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6535781	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6535782	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6535783	0.83[EUR][1000 genomes]
rs6535785	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6823844	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6824159	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6824195	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6832149	0.83[EUR][1000 genomes]
rs6844983	0.92[EUR][1000 genomes]
rs6849871	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6849875	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6851493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725927	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7663659	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7665657	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7689875	0.82[EUR][1000 genomes]
rs7695360	0.93[EUR][1000 genomes]
rs9985620	0.82[AMR][1000 genomes]
rs9990564	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9994652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996742	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9997353	0.82[EUR][1000 genomes]
rs9997461	0.94[EUR][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	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152149200-152197600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:152173800-152198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:152177400-152198200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:152177800-152200000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:152180000-152193800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:152182600-152211000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:152182800-152206000	Weak transcription	NHEK	skin
8	chr4:152183200-152198200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:152185000-152198200	Weak transcription	Right Ventricle	heart
10	chr4:152185200-152197600	Weak transcription	Left Ventricle	heart
11	chr4:152188600-152204000	Weak transcription	Gastric	stomach
12	chr4:152189200-152195400	Weak transcription	Psoas Muscle	Psoas
13	chr4:152189200-152197600	Weak transcription	Ovary	ovary
14	chr4:152189400-152193600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:152189400-152193800	Weak transcription	Stomach Mucosa	stomach
16	chr4:152189400-152197600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:152189400-152197600	Weak transcription	HepG2	liver
18	chr4:152189400-152198200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:152189400-152202400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:152189400-152205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:152189600-152198400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:152190800-152208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:152191200-152204200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:152191800-152195800	Weak transcription	Right Atrium	heart
25	chr4:152192600-152197600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:152192800-152197400	Weak transcription	Brain Angular Gyrus	brain
27	chr4:152192800-152197400	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:152192800-152198200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:152193200-152193600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:152193400-152193600	Enhancers	Brain Substantia Nigra	brain
31	chr4:152193400-152194000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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