Variant report

Variant	rs10239796
Chromosome Location	chr7:110998054-110998055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:110994535..110996072-chr7:110997457..110999303,2	K562	blood:
2	chr7:110994957..110999323-chr7:111001198..111006593,6	K562	blood:
3	chr7:110997175..111000339-chr7:111001551..111003490,3	K562	blood:
4	chr7:110991909..110993941-chr7:110997470..110999246,2	K562	blood:

Extended variants
information (count: 213 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10230581	1.00[AMR][1000 genomes]
rs10232907	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs10236666	1.00[YRI][hapmap]
rs10239002	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10239861	1.00[AMR][1000 genomes]
rs10249674	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10250608	0.92[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254893	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262060	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265637	1.00[AMR][1000 genomes]
rs10271042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275307	1.00[AMR][1000 genomes]
rs10275811	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs10277071	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10279293	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10280060	0.92[YRI][hapmap]
rs10281388	1.00[AMR][1000 genomes]
rs1077030	1.00[AMR][1000 genomes]
rs17158443	0.91[YRI][hapmap]
rs17158524	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158537	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17158539	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158542	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158568	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs17158571	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs17158572	1.00[AMR][1000 genomes]
rs17158574	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2158934	1.00[AMR][1000 genomes]
rs2396397	1.00[AMR][1000 genomes]
rs2529492	1.00[AMR][1000 genomes]
rs2613594	1.00[AMR][1000 genomes]
rs28416340	1.00[AMR][1000 genomes]
rs28457165	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28558721	1.00[AMR][1000 genomes]
rs28564577	1.00[AMR][1000 genomes]
rs28661812	1.00[AMR][1000 genomes]
rs28679405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36097731	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56938422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57412316	1.00[AMR][1000 genomes]
rs59312485	1.00[AMR][1000 genomes]
rs59664787	1.00[AMR][1000 genomes]
rs60926751	1.00[AMR][1000 genomes]
rs724462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422079	1.00[AMR][1000 genomes]
rs73424007	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73424053	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73424093	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73424098	1.00[AMR][1000 genomes]
rs73426230	1.00[AMR][1000 genomes]
rs73426232	1.00[AMR][1000 genomes]
rs7793495	1.00[AMR][1000 genomes]
rs7797683	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv608155	chr7:110722482-111351512	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1035119	chr7:110745019-111258501	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1022943	chr7:110786548-111092491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv539064	chr7:110786548-111092491	Genic enhancers Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2752141	chr7:110787970-111113591	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv888977	chr7:110798059-111108260	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2758130	chr7:110800911-111304825	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv2759555	chr7:110800911-111304825	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1028670	chr7:110803740-111035102	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1022548	chr7:110803740-111227807	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv519251	chr7:110813808-111048579	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv528235	chr7:110813808-111048579	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1017427	chr7:110817059-111033408	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv869830	chr7:110817744-111025319	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv2422443	chr7:110821726-111158074	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	esv2422497	chr7:110821726-111158074	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv527658	chr7:110832836-111289967	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv1019130	chr7:110835018-111266132	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv1021533	chr7:110838612-111201524	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv1026844	chr7:110839832-111194657	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv539065	chr7:110839832-111194657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	nsv492313	chr7:110839833-111333959	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
27	nsv1018312	chr7:110842924-111012486	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv1027511	chr7:110842924-111035102	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv1019379	chr7:110842924-111227807	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	nsv888982	chr7:110843795-111018844	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv608158	chr7:110843795-111108260	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
32	nsv527155	chr7:110843795-111112853	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
33	nsv1016470	chr7:110849110-111093941	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
34	nsv608159	chr7:110851553-111169227	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
35	nsv517394	chr7:110869432-111365743	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
36	nsv1017446	chr7:110875153-111056870	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
37	nsv1023441	chr7:110875153-111060773	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
38	nsv1028782	chr7:110877992-111012486	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv539066	chr7:110877992-111012486	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
40	nsv1022469	chr7:110877992-111035102	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
41	nsv539067	chr7:110877992-111035102	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
42	nsv1027104	chr7:110877992-111071545	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
43	nsv539068	chr7:110877992-111071545	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
44	nsv1033382	chr7:110877992-111105396	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
45	nsv539069	chr7:110877992-111105396	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
46	nsv1031790	chr7:110877992-111136259	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
47	nsv1032982	chr7:110879251-111022643	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
48	esv3693370	chr7:110879251-111059886	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
49	nsv1034649	chr7:110879251-111060773	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
50	nsv888985	chr7:110883330-111332434	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110987400-111002800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:110997000-110998200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:110997000-110998400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:110997000-110998600	Enhancers	A549	lung
5	chr7:110997000-110998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:110997000-110999000	Enhancers	HMEC	breast
7	chr7:110997000-110999200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:110997000-110999200	Enhancers	Hela-S3	cervix
9	chr7:110997000-110999400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:110997000-110999800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:110997200-110998200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:110997200-110998200	Enhancers	Osteobl	bone
13	chr7:110997200-110998400	Enhancers	HSMM	muscle
14	chr7:110997200-110998600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:110997200-110999200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:110997400-110998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:110997400-110998400	Enhancers	NHDF-Ad	bronchial
18	chr7:110997400-111002800	Weak transcription	NH-A	brain
19	chr7:110997400-111008200	Weak transcription	K562	blood
20	chr7:110997600-110998400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:110997800-110998400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:110997800-111002600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:110998000-110998400	Enhancers	HSMMtube	muscle
24	chr7:110998000-110998400	Flanking Active TSS	NHEK	skin
25	chr7:110998000-110999200	Enhancers	Right Atrium	heart
26	chr7:110998000-110999400	Enhancers	Aorta	Aorta

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