Variant report

Variant	rs2396302
Chromosome Location	chr7:110687589-110687590
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110685337..110687591-chr7:111322599..111325063,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1014269	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014270	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014271	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237613	0.83[EUR][1000 genomes]
rs10241771	0.83[EUR][1000 genomes]
rs10257531	0.83[EUR][1000 genomes]
rs12705758	0.83[EUR][1000 genomes]
rs13238719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214841	0.83[EUR][1000 genomes]
rs214844	0.83[EUR][1000 genomes]
rs214846	0.83[EUR][1000 genomes]
rs214849	0.83[EUR][1000 genomes]
rs214850	0.83[EUR][1000 genomes]
rs214851	0.83[EUR][1000 genomes]
rs214853	0.83[EUR][1000 genomes]
rs214854	0.83[EUR][1000 genomes]
rs214855	0.83[EUR][1000 genomes]
rs214856	0.83[EUR][1000 genomes]
rs214857	0.83[EUR][1000 genomes]
rs214858	0.83[EUR][1000 genomes]
rs214859	0.83[EUR][1000 genomes]
rs214860	0.83[EUR][1000 genomes]
rs214861	0.83[EUR][1000 genomes]
rs214862	0.83[EUR][1000 genomes]
rs214863	0.83[EUR][1000 genomes]
rs214864	0.83[EUR][1000 genomes]
rs214865	0.83[EUR][1000 genomes]
rs214866	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs214867	0.83[EUR][1000 genomes]
rs214869	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs214870	0.83[EUR][1000 genomes]
rs214871	0.83[EUR][1000 genomes]
rs214872	0.83[EUR][1000 genomes]
rs214873	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs214874	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs214877	0.83[EUR][1000 genomes]
rs214878	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs214879	0.83[EUR][1000 genomes]
rs214880	0.83[EUR][1000 genomes]
rs214881	0.83[EUR][1000 genomes]
rs214882	0.83[EUR][1000 genomes]
rs214886	0.83[EUR][1000 genomes]
rs214887	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs214894	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160024	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28590134	0.83[EUR][1000 genomes]
rs4236594	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730474	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57817514	0.83[EUR][1000 genomes]
rs58799975	0.83[EUR][1000 genomes]
rs59902560	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60913915	0.83[EUR][1000 genomes]
rs6466372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945175	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783424	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790427	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7802954	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996597	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv888973	chr7:110509579-110699652	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110681800-110689600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:110681800-110689600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:110682000-110692600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:110684400-110690600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:110685600-110689600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:110685800-110689800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:110685800-110689800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:110685800-110689800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:110685800-110689800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:110685800-110690000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:110685800-110691800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:110685800-110693200	Weak transcription	Ovary	ovary
13	chr7:110686000-110689600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:110686000-110695400	Weak transcription	Aorta	Aorta
15	chr7:110687400-110688000	Enhancers	HepG2	liver

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