Variant report

Variant	rs57004467
Chromosome Location	chr1:180636375-180636376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180552648..180554926-chr1:180634516..180636719,2	K562	blood:
2	chr1:180635790..180637980-chr1:180647004..180649044,3	K562	blood:
3	chr1:180636272..180637982-chr1:180722963..180724636,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10914092	1.00[AMR][1000 genomes]
rs10914097	1.00[AMR][1000 genomes]
rs10914099	1.00[AMR][1000 genomes]
rs10914100	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12058670	1.00[AMR][1000 genomes]
rs12059839	1.00[AMR][1000 genomes]
rs12060280	1.00[AMR][1000 genomes]
rs12062543	1.00[AMR][1000 genomes]
rs12062549	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064761	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068825	1.00[AMR][1000 genomes]
rs12070554	1.00[AMR][1000 genomes]
rs12073278	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076029	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076333	1.00[AMR][1000 genomes]
rs12076671	1.00[AMR][1000 genomes]
rs12082348	1.00[AMR][1000 genomes]
rs12083109	1.00[AMR][1000 genomes]
rs12084562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085100	1.00[AMR][1000 genomes]
rs12087750	1.00[AMR][1000 genomes]
rs12089474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089522	1.00[AMR][1000 genomes]
rs12089583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089730	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092799	1.00[AMR][1000 genomes]
rs12093933	1.00[AMR][1000 genomes]
rs12095275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095957	1.00[AMR][1000 genomes]
rs12097202	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17373660	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv988017	chr1:180630648-180639452	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180627600-180640000	Weak transcription	Fetal Heart	heart
3	chr1:180629600-180641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:180631600-180644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:180632200-180644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:180633200-180672000	Weak transcription	K562	blood
7	chr1:180633400-180642600	Weak transcription	Pancreas	Pancrea
8	chr1:180633800-180640200	Weak transcription	Right Ventricle	heart
9	chr1:180634000-180643400	Weak transcription	Left Ventricle	heart
10	chr1:180634800-180637400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:180634800-180637400	Weak transcription	Lung	lung
12	chr1:180634800-180639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:180634800-180640400	Weak transcription	Aorta	Aorta
14	chr1:180634800-180643800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:180635000-180637400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:180635000-180642600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:180635000-180644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:180635200-180638200	Weak transcription	Dnd41	blood
19	chr1:180635200-180654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:180635400-180638600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:180635600-180636400	Weak transcription	Primary B cells from cord blood	blood
22	chr1:180635800-180636600	ZNF genes & repeats	Fetal Brain Male	brain
23	chr1:180636000-180636400	ZNF genes & repeats	Ovary	ovary
24	chr1:180636000-180636600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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