Variant report

Variant	rs2049378
Chromosome Location	chr7:119383957-119383958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
2	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
3	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
4	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
5	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10085666	0.93[EUR][1000 genomes]
rs10233853	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10235983	0.93[EUR][1000 genomes]
rs10244657	0.93[EUR][1000 genomes]
rs10247975	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10267001	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10268381	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10274212	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10274517	0.93[EUR][1000 genomes]
rs10275081	0.93[EUR][1000 genomes]
rs10281584	0.93[EUR][1000 genomes]
rs1099822	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12333906	0.93[EUR][1000 genomes]
rs12374758	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13230241	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1357675	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1404081	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1404082	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1404084	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1524200	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1524201	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1524204	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1581503	0.93[EUR][1000 genomes]
rs1581505	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1581506	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1589753	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1608584	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1851807	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1949782	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1980321	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2049380	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2049382	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2049383	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2056583	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2204310	0.93[EUR][1000 genomes]
rs2204311	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2263403	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2402489	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28451901	0.93[EUR][1000 genomes]
rs4278103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4338035	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4449718	0.86[EUR][1000 genomes]
rs4460311	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4529399	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4727900	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4727902	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4730942	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58135787	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58538319	0.93[EUR][1000 genomes]
rs58640086	0.83[AMR][1000 genomes]
rs58859180	0.93[EUR][1000 genomes]
rs6466712	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6945733	0.93[EUR][1000 genomes]
rs6952445	0.93[EUR][1000 genomes]
rs6958697	0.82[EUR][1000 genomes]
rs6968560	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73472916	0.93[EUR][1000 genomes]
rs73472917	0.93[EUR][1000 genomes]
rs7779237	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7781144	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782751	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7788783	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7791400	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7799121	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7808015	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846422	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846423	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846425	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846426	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846432	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846433	0.93[EUR][1000 genomes]
rs846434	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846435	0.93[EUR][1000 genomes]
rs846440	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846442	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846443	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs846449	0.93[EUR][1000 genomes]
rs9641626	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9641627	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9641628	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9691446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949327	chr7:119179990-119402882	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv889114	chr7:119206096-119440159	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv889115	chr7:119270386-119577292	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1029023	chr7:119292763-119606632	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1023813	chr7:119292763-119606803	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv524225	chr7:119293417-119606632	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1029841	chr7:119299627-119606632	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1024175	chr7:119299627-119606803	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1018500	chr7:119310497-119532489	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1028812	chr7:119310497-119604904	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv539097	chr7:119310497-119604904	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1033418	chr7:119324894-119600025	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv539098	chr7:119324894-119600025	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv1808130	chr7:119332021-119388127	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1021911	chr7:119346017-119389972	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1019030	chr7:119346017-119393756	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv2761359	chr7:119346029-119389984	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv5926	chr7:119350040-119389641	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv608322	chr7:119363703-119467040	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv608323	chr7:119363703-119469204	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv1815106	chr7:119366996-119384595	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
22	esv14381	chr7:119374573-119386624	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
23	nsv514449	chr7:119374908-119384284	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
24	esv1805413	chr7:119375538-119384595	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
25	esv1807505	chr7:119375538-119384595	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
26	esv1809256	chr7:119375538-119384595	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
27	esv1809747	chr7:119375538-119384595	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
28	esv1809917	chr7:119375538-119384595	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
29	esv1812692	chr7:119375538-119384595	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
30	esv1812357	chr7:119375538-119388127	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
31	nsv1024697	chr7:119377777-119426170	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119364800-119416000	Weak transcription	K562	blood
2	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:119383200-119384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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