Variant report

Variant	rs6974124
Chromosome Location	chr7:16274120-16274121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16272248..16274869-chr7:16305157..16307096,2	K562	blood:
2	chr7:16271772..16276074-chr7:16279630..16282231,4	K562	blood:
3	chr7:16272248..16275452-chr7:16305157..16308165,4	K562	blood:
4	chr7:16263097..16266771-chr7:16270720..16274586,3	K562	blood:
5	chr7:16271837..16274588-chr7:16275186..16279473,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10264415	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10487915	0.87[EUR][1000 genomes]
rs1295129	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1527208	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1527209	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1527210	0.81[EUR][1000 genomes]
rs1527219	0.88[EUR][1000 genomes]
rs1527220	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs1527221	0.90[EUR][1000 genomes]
rs17361889	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17458603	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17672493	0.88[EUR][1000 genomes]
rs1918259	0.85[CEU][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs1918260	0.89[EUR][1000 genomes]
rs1918266	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918267	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1949952	0.88[EUR][1000 genomes]
rs2214626	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4721485	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56005627	0.83[EUR][1000 genomes]
rs56024841	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56161298	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56279207	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61282805	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62440374	0.84[EUR][1000 genomes]
rs62440376	0.88[EUR][1000 genomes]
rs62440394	0.96[EUR][1000 genomes]
rs62440396	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62440406	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62440407	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62440450	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62440451	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6954901	0.89[CEU][hapmap]
rs6956986	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6961874	0.90[EUR][1000 genomes]
rs6963052	0.82[EUR][1000 genomes]
rs6968510	0.88[ASN][1000 genomes]
rs7778438	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7782485	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	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
4	nsv887738	chr7:16211553-16284139	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv887739	chr7:16216494-16284139	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv887740	chr7:16216494-16286261	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv887741	chr7:16216494-16300179	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	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
10	esv34298	chr7:16251754-16324185	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	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
12	nsv887742	chr7:16254553-16284139	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1017498	chr7:16262300-16313476	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv1022814	chr7:16262300-16339988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv470133	chr7:16269632-16312056	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv887743	chr7:16271621-16304817	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6974124	SOSTDC1	cis	parietal	SCAN
rs6974124	ANKMY2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16250200-16275800	Weak transcription	Pancreas	Pancrea
2	chr7:16272200-16276600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:16272200-16276800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:16273000-16274200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:16273400-16274200	Weak transcription	Fetal Lung	lung
6	chr7:16273400-16274200	Weak transcription	K562	blood

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