Variant report

Variant	rs4146016
Chromosome Location	chr7:16386494-16386495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10225225	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10225332	0.84[EUR][1000 genomes]
rs10255266	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10280525	0.84[EUR][1000 genomes]
rs10281901	0.91[EUR][1000 genomes]
rs10950607	0.84[EUR][1000 genomes]
rs10950612	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10950615	0.90[ASN][1000 genomes]
rs10950617	0.90[ASN][1000 genomes]
rs11773382	0.84[EUR][1000 genomes]
rs12699785	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13225577	0.84[EUR][1000 genomes]
rs1548568	0.84[EUR][1000 genomes]
rs1548569	0.84[EUR][1000 genomes]
rs1548570	0.83[EUR][1000 genomes]
rs1548571	0.84[EUR][1000 genomes]
rs2107587	0.82[AFR][1000 genomes]
rs2178598	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2214623	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4236286	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4370432	0.83[EUR][1000 genomes]
rs4559135	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4721491	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4721493	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55698830	0.90[ASN][1000 genomes]
rs56406025	0.90[ASN][1000 genomes]
rs58665173	0.90[ASN][1000 genomes]
rs59806774	0.89[ASN][1000 genomes]
rs59866961	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62441885	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6461235	0.84[EUR][1000 genomes]
rs6461238	0.84[EUR][1000 genomes]
rs6958419	0.91[EUR][1000 genomes]
rs6959691	0.84[EUR][1000 genomes]
rs6968164	0.84[EUR][1000 genomes]
rs6973038	0.84[EUR][1000 genomes]
rs6973859	0.84[EUR][1000 genomes]
rs6977335	0.84[EUR][1000 genomes]
rs6978854	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7787308	0.84[EUR][1000 genomes]
rs7808683	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7810150	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9639259	0.84[EUR][1000 genomes]
rs9655134	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv887744	chr7:16346213-16401190	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv887745	chr7:16346213-16405309	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv887746	chr7:16348091-16401190	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv887747	chr7:16348091-16405309	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv8061	chr7:16348519-16405295	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3475733	chr7:16348798-16402304	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3475734	chr7:16348821-16402329	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3475732	chr7:16348828-16402264	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3475735	chr7:16348828-16402264	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv442031	chr7:16348843-16402114	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv818488	chr7:16350130-16401190	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv887748	chr7:16350130-16401190	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv887749	chr7:16350130-16401190	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv887750	chr7:16350130-16405309	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv887751	chr7:16350130-16405309	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv523384	chr7:16350859-16401190	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv34942	chr7:16351845-16399822	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv34248	chr7:16351845-16399860	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv35018	chr7:16351845-16399860	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv34392	chr7:16351845-16412625	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv887752	chr7:16352616-16401190	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv887753	chr7:16352616-16405309	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv514407	chr7:16357609-16399725	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv508447	chr7:16360614-16446053	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv464393	chr7:16362378-16397352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv606324	chr7:16362378-16397352	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
34	nsv464396	chr7:16381366-16401190	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv606325	chr7:16381366-16401190	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4146016	SOSTDC1	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16384800-16388000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:16385000-16387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:16385000-16388400	Enhancers	HSMM	muscle
4	chr7:16385200-16387600	Enhancers	HMEC	breast
5	chr7:16385200-16388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:16385400-16388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:16385600-16386800	Enhancers	NHLF	lung
8	chr7:16385600-16387400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:16385600-16387600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:16385600-16387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:16385600-16387800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:16385600-16387800	Enhancers	HSMMtube	muscle
13	chr7:16385600-16388000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:16385600-16388000	Enhancers	NHDF-Ad	bronchial
15	chr7:16385600-16388200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:16385800-16386800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:16385800-16386800	Enhancers	NHEK	skin
18	chr7:16385800-16387600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:16385800-16387800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:16385800-16388800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:16386000-16386600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:16386000-16386600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:16386000-16387200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:16386000-16387600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:16386200-16386600	Flanking Active TSS	Fetal Heart	heart
26	chr7:16386200-16386600	Enhancers	Ovary	ovary
27	chr7:16386200-16386600	Flanking Active TSS	NH-A	brain
28	chr7:16386200-16387400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr7:16386400-16386600	Enhancers	Gastric	stomach
30	chr7:16386400-16386600	Enhancers	Right Atrium	heart
31	chr7:16386400-16386600	Enhancers	Right Ventricle	heart
32	chr7:16386400-16386600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr7:16386400-16386600	Flanking Active TSS	K562	blood
34	chr7:16386400-16386800	Flanking Active TSS	Osteobl	bone
35	chr7:16386400-16387000	Weak transcription	Fetal Kidney	kidney
36	chr7:16386400-16388400	Enhancers	Fetal Muscle Leg	muscle
37	chr7:16386400-16388400	Enhancers	Stomach Mucosa	stomach
38	chr7:16386400-16388600	Enhancers	Left Ventricle	heart
39	chr7:16386400-16388600	Enhancers	Psoas Muscle	Psoas

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