Variant report

Variant	rs4689146
Chromosome Location	chr4:7632939-7632940
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	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10937846	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11723630	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11735230	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11737254	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12509359	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13120915	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13130320	0.83[AMR][1000 genomes]
rs1468250	0.93[ASN][1000 genomes]
rs2234766	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34339711	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34741744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34846328	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35258083	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35828773	0.84[AMR][1000 genomes]
rs4689145	1.00[ASN][1000 genomes]
rs4689808	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4689809	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4689810	0.98[ASN][1000 genomes]
rs4689812	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61574353	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62277516	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62289059	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv461213	chr4:7584560-7637297	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv593618	chr4:7584560-7637297	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv517503	chr4:7632330-7639906	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4689146	SORCS2	cis	Whole Blood	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7631200-7633800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:7631200-7635000	Enhancers	Fetal Brain Male	brain
3	chr4:7631600-7633200	Flanking Active TSS	HepG2	liver
4	chr4:7631600-7633400	Enhancers	Ovary	ovary
5	chr4:7631600-7634600	Enhancers	Brain Hippocampus Middle	brain
6	chr4:7631600-7635200	Enhancers	Right Ventricle	heart
7	chr4:7631800-7633400	Enhancers	HUVEC	blood vessel
8	chr4:7631800-7633600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:7631800-7633600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:7631800-7633800	Enhancers	HMEC	breast
11	chr4:7631800-7634000	Enhancers	Brain Angular Gyrus	brain
12	chr4:7631800-7634600	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:7631800-7634600	Enhancers	Brain Substantia Nigra	brain
14	chr4:7631800-7634600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr4:7631800-7634600	Enhancers	Left Ventricle	heart
16	chr4:7631800-7634800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:7631800-7635200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:7632000-7633200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:7632000-7633200	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:7632000-7633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:7632000-7633600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:7632000-7633600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:7632000-7634000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr4:7632200-7633000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:7632200-7633000	Enhancers	Brain Germinal Matrix	brain
26	chr4:7632200-7633000	Enhancers	Fetal Muscle Leg	muscle
27	chr4:7632200-7633000	Enhancers	Spleen	Spleen
28	chr4:7632200-7633200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr4:7632200-7634600	Enhancers	Right Atrium	heart
30	chr4:7632400-7633000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:7632400-7633200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:7632400-7633200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:7632400-7633200	Enhancers	Brain Anterior Caudate	brain
34	chr4:7632400-7633200	Flanking Active TSS	Osteobl	bone
35	chr4:7632400-7633600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:7632400-7633800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:7632400-7633800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr4:7632400-7634200	Enhancers	Fetal Brain Female	brain
39	chr4:7632400-7634400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:7632600-7633000	Weak transcription	Esophagus	oesophagus
41	chr4:7632600-7633200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:7632600-7633200	Enhancers	Liver	Liver
43	chr4:7632600-7633400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:7632800-7633000	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr4:7632800-7633000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr4:7632800-7633000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr4:7632800-7633000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr4:7632800-7633200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:7632800-7633200	Flanking Active TSS	HSMM	muscle
50	chr4:7632800-7633200	Enhancers	NH-A	brain

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