Variant report

Variant	rs2214424
Chromosome Location	chr7:125389830-125389831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:125385605..125387936-chr7:125388625..125390972,2	K562	blood:
2	chr7:125385463..125387105-chr7:125388625..125390168,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10240505	0.83[JPT][hapmap]
rs10244297	0.81[ASN][1000 genomes]
rs10257597	0.81[ASN][1000 genomes]
rs2189267	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2214425	0.83[ASN][1000 genomes]
rs2402797	0.85[ASN][1000 genomes]
rs34468337	0.90[ASN][1000 genomes]
rs34808400	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4521706	0.85[ASN][1000 genomes]
rs4728029	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4728030	0.85[ASN][1000 genomes]
rs4731269	0.81[ASN][1000 genomes]
rs60993707	0.81[ASN][1000 genomes]
rs67477800	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6976108	0.81[ASN][1000 genomes]
rs725090	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs725091	0.85[ASN][1000 genomes]
rs725092	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs987220	0.85[ASN][1000 genomes]
rs987221	0.82[JPT][hapmap]

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	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	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
11	nsv889154	chr7:125284039-125392358	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv889155	chr7:125287479-125392358	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	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
14	nsv608348	chr7:125314659-125410845	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv608349	chr7:125340641-125848851	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1020525	chr7:125349375-125392459	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1020374	chr7:125355210-125461085	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv520188	chr7:125370694-125462178	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv889157	chr7:125375744-125513022	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125388400-125390200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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