Variant report

Variant	rs1550774
Chromosome Location	chr10:49576454-49576455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49574275..49576561-chr10:49624083..49626541,2	K562	blood:
2	chr10:49575679..49577589-chr10:49718345..49720173,2	K562	blood:
3	chr10:49574821..49576525-chr10:49722125..49725054,2	K562	blood:
4	chr10:49575086..49577260-chr10:49608077..49611007,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction
ENSG00000248682	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10735224	0.87[AFR][1000 genomes]
rs10735225	0.87[AFR][1000 genomes]
rs10776599	0.87[AFR][1000 genomes]
rs10776605	1.00[GIH][hapmap]
rs10857567	1.00[CEU][hapmap]
rs10857570	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11101265	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs11816450	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12249536	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12252237	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1429801	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1429802	1.00[CEU][hapmap]
rs1542153	1.00[EUR][1000 genomes]
rs1623017	1.00[CEU][hapmap]
rs17011328	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1867575	1.00[GIH][hapmap]
rs1881739	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1919705	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1978998	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2463956	1.00[LWK][hapmap];0.86[AFR][1000 genomes]
rs2590379	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590387	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590388	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590390	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698760	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2698769	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730154	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301111	1.00[EUR][1000 genomes]
rs4141840	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4385845	0.82[ASW][hapmap]
rs58181014	0.89[AFR][1000 genomes]
rs59377405	1.00[EUR][1000 genomes]
rs60467447	1.00[EUR][1000 genomes]
rs61343950	1.00[EUR][1000 genomes]
rs7072065	1.00[EUR][1000 genomes]
rs7073628	1.00[EUR][1000 genomes]
rs7085678	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7098618	1.00[CEU][hapmap]
rs73293121	1.00[EUR][1000 genomes]
rs73293181	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73293198	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73298383	1.00[EUR][1000 genomes]
rs73300395	1.00[EUR][1000 genomes]
rs74130210	0.83[EUR][1000 genomes]
rs74130216	1.00[EUR][1000 genomes]
rs7893756	0.82[ASW][hapmap]
rs7894863	0.87[AFR][1000 genomes]
rs7901179	1.00[EUR][1000 genomes]
rs7915014	1.00[CEU][hapmap]

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	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 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	chr10:49566400-49580000	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:49568600-49582000	Weak transcription	Psoas Muscle	Psoas
3	chr10:49572000-49577000	Weak transcription	Fetal Heart	heart
4	chr10:49572200-49585600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:49573400-49578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr10:49573400-49581800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:49573400-49588600	Weak transcription	Primary T cells from cord blood	blood
8	chr10:49573600-49591200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:49574000-49585600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:49574200-49589800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:49574400-49577400	Weak transcription	NHEK	skin
12	chr10:49574600-49579800	Weak transcription	Fetal Lung	lung
13	chr10:49574600-49589800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:49574600-49589800	Weak transcription	Left Ventricle	heart
15	chr10:49574800-49589800	Weak transcription	A549	lung
16	chr10:49575200-49576600	Enhancers	Right Ventricle	heart
17	chr10:49575200-49588000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:49576200-49576600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:49576200-49576600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:49576200-49577200	Enhancers	Right Atrium	heart
21	chr10:49576400-49576600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:49576400-49576600	Enhancers	Aorta	Aorta
23	chr10:49576400-49576600	Enhancers	Ovary	ovary
24	chr10:49576400-49576600	Enhancers	NHLF	lung
25	chr10:49576400-49576800	Weak transcription	Fetal Kidney	kidney
26	chr10:49576400-49577200	Enhancers	Lung	lung

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