Variant report

Variant	rs930957
Chromosome Location	chr3:163231035-163231036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163228792..163232819-chr3:163240810..163244604,3	K562	blood:
2	chr3:163230380..163232923-chr3:163236002..163238220,2	K562	blood:
3	chr3:163230237..163233801-chr3:163239062..163243391,4	K562	blood:
4	chr3:163227245..163228768-chr3:163230069..163232558,2	MCF-7	breast:
5	chr3:163230463..163232741-chr3:163233612..163235131,2	K562	blood:

Variant related genes	Relation type
ENSG00000265090	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1350711	0.80[EUR][1000 genomes]
rs1380778	0.81[EUR][1000 genomes]
rs1380779	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1460424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1460425	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1460426	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1460428	0.82[EUR][1000 genomes]
rs1460429	0.82[EUR][1000 genomes]
rs1460430	0.81[EUR][1000 genomes]
rs1460431	0.81[EUR][1000 genomes]
rs1545703	0.80[EUR][1000 genomes]
rs17476764	0.81[EUR][1000 genomes]
rs17477274	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2007078	0.80[EUR][1000 genomes]
rs2085790	0.81[EUR][1000 genomes]
rs2100770	0.81[EUR][1000 genomes]
rs2125957	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2125958	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2125959	0.83[EUR][1000 genomes]
rs2219572	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2612723	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2612743	0.81[EUR][1000 genomes]
rs2612744	0.81[EUR][1000 genomes]
rs2612745	0.81[EUR][1000 genomes]
rs2612746	0.81[EUR][1000 genomes]
rs2711750	0.81[EUR][1000 genomes]
rs2711751	0.81[EUR][1000 genomes]
rs2711752	0.81[EUR][1000 genomes]
rs2711753	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2711755	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2711759	0.83[EUR][1000 genomes]
rs2711760	0.83[EUR][1000 genomes]
rs2711767	0.82[EUR][1000 genomes]
rs2711769	0.83[EUR][1000 genomes]
rs2711770	0.83[EUR][1000 genomes]
rs2711772	0.81[EUR][1000 genomes]
rs2711787	0.80[EUR][1000 genomes]
rs56062208	0.80[EUR][1000 genomes]
rs62293527	0.81[EUR][1000 genomes]
rs62293528	0.81[EUR][1000 genomes]
rs62294676	0.81[EUR][1000 genomes]
rs62294678	0.83[EUR][1000 genomes]
rs6779232	0.80[EUR][1000 genomes]
rs6789996	0.81[EUR][1000 genomes]
rs6810174	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7616344	0.81[EUR][1000 genomes]
rs7635143	0.81[EUR][1000 genomes]
rs7636016	1.00[CEU][hapmap]
rs7652725	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9290212	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs975030	0.81[EUR][1000 genomes]
rs975031	0.81[EUR][1000 genomes]
rs996784	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877791	chr3:162682825-163267267	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006269	chr3:162930989-163324002	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2762359	chr3:162961220-163350596	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1004953	chr3:162967323-163580953	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536787	chr3:162967323-163580953	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv592413	chr3:162975100-163267267	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv524743	chr3:162975100-163585969	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv994977	chr3:162983135-163551976	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1833194	chr3:163021072-163282204	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv877804	chr3:163063391-163281470	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv877807	chr3:163075070-163233510	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1011615	chr3:163124896-163310192	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1003820	chr3:163133455-163675884	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv536788	chr3:163133455-163675884	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv877808	chr3:163170688-163267267	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv1817405	chr3:163171362-163284107	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv877809	chr3:163180280-163273698	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv999078	chr3:163191126-163448313	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv2763735	chr3:163215818-163331319	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163220800-163235400	Weak transcription	K562	blood
2	chr3:163231000-163231200	Flanking Active TSS	Hela-S3	cervix
3	chr3:163231000-163231800	Enhancers	Dnd41	blood

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