Variant report

Variant	rs73442019
Chromosome Location	chr7:125323421-125323422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1012346	0.90[ASN][1000 genomes]
rs1012347	0.85[ASN][1000 genomes]
rs10230988	1.00[ASN][1000 genomes]
rs11971609	1.00[ASN][1000 genomes]
rs11972934	1.00[ASN][1000 genomes]
rs11976683	1.00[ASN][1000 genomes]
rs11983502	1.00[ASN][1000 genomes]
rs2051813	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58549359	1.00[ASN][1000 genomes]
rs58931003	1.00[ASN][1000 genomes]
rs6467032	1.00[ASN][1000 genomes]
rs6956520	1.00[ASN][1000 genomes]
rs6978364	1.00[ASN][1000 genomes]
rs6978742	1.00[ASN][1000 genomes]
rs73440043	1.00[ASN][1000 genomes]
rs73440044	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73440048	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73440085	1.00[ASN][1000 genomes]
rs73440096	1.00[ASN][1000 genomes]
rs73440101	0.82[ASN][1000 genomes]
rs73442003	1.00[ASN][1000 genomes]
rs73442005	1.00[ASN][1000 genomes]
rs73442010	1.00[ASN][1000 genomes]
rs73442014	1.00[ASN][1000 genomes]
rs73442020	1.00[ASN][1000 genomes]
rs73444132	1.00[ASN][1000 genomes]
rs73444139	1.00[ASN][1000 genomes]
rs73722064	0.87[EUR][1000 genomes]
rs73722068	0.87[EUR][1000 genomes]
rs73722069	0.87[EUR][1000 genomes]
rs7790257	1.00[ASN][1000 genomes]
rs7801353	0.87[EUR][1000 genomes]
rs7801509	0.87[EUR][1000 genomes]
rs7808947	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1028369	chr7:124967804-125508233	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv948720	chr7:124970772-125783434	Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1018428	chr7:125044642-125730775	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1028636	chr7:125073718-125406148	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv539112	chr7:125073718-125406148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034113	chr7:125099740-125412688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv529134	chr7:125178203-125571449	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv889150	chr7:125232034-125716635	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv889151	chr7:125246542-125358505	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv889152	chr7:125246542-125370694	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv889153	chr7:125246542-125521995	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1018799	chr7:125262762-125384885	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv889154	chr7:125284039-125392358	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv889155	chr7:125287479-125392358	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv889156	chr7:125287479-125463717	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1029137	chr7:125288126-125388062	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv608348	chr7:125314659-125410845	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125323000-125323600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:125323200-125323600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:125323400-125324000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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