Variant report

Variant	rs2189733
Chromosome Location	chr7:16351845-16351846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16343653..16345575-chr7:16349935..16352190,3	K562	blood:
2	chr7:16349823..16352454-chr7:16353444..16355930,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10238993	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10251171	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10259276	0.90[EUR][1000 genomes]
rs10260543	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464285	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699776	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17361889	1.00[YRI][hapmap]
rs17362810	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17460723	0.84[EUR][1000 genomes]
rs1921838	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2107588	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2107589	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2158486	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2158491	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2189735	0.82[EUR][1000 genomes]
rs2389596	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2389597	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4537216	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4719464	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4721487	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56076119	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56399830	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59440007	0.94[EUR][1000 genomes]
rs60710809	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61694712	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62440455	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62440456	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62441091	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62441879	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62441882	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62441888	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62441911	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62441913	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62441915	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62441917	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62441918	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62441921	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62441925	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7805439	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2189733	SOSTDC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16347600-16356200	Weak transcription	K562	blood

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