Variant report

Variant	rs7074517
Chromosome Location	chr10:3987779-3987780
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:3987220..3989447-chr10:3991646..3993576,2	K562	blood:
2	chr10:3985769..3988487-chr10:3989989..3992025,2	K562	blood:
3	chr10:3824577..3826602-chr10:3984998..3987938,2	K562	blood:
4	chr10:3817038..3819600-chr10:3984644..3988017,3	K562	blood:
5	chr10:3827664..3829812-chr10:3985989..3988957,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12264571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28459110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28628206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7093421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582494	0.83[AMR][1000 genomes]
rs73584410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7899663	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv894784	chr10:3985194-4051081	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv24718	chr10:3987604-3991658	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3977400-3988400	Weak transcription	Left Ventricle	heart
2	chr10:3978200-3987800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:3978600-3988000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr10:3979000-3987800	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:3979000-3988000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:3979000-3994400	Weak transcription	Stomach Mucosa	stomach
7	chr10:3981800-4001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:3984000-3987800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:3984200-3990000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr10:3985000-3990800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:3985000-3994200	Weak transcription	Gastric	stomach
12	chr10:3985200-3988000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:3985400-3987800	Weak transcription	Esophagus	oesophagus
14	chr10:3985400-3988000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:3985400-3988000	Weak transcription	HMEC	breast
16	chr10:3985600-3988000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:3985600-3988000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:3985600-3988000	Weak transcription	NHLF	lung
19	chr10:3985600-3988000	Weak transcription	Osteobl	bone
20	chr10:3985600-3991000	Weak transcription	HUVEC	blood vessel
21	chr10:3985600-3991400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:3985800-3988000	Weak transcription	NH-A	brain
23	chr10:3985800-3992800	Enhancers	Dnd41	blood
24	chr10:3986000-3988000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:3986000-3988200	Weak transcription	Right Ventricle	heart
26	chr10:3986000-3997600	Weak transcription	Right Atrium	heart
27	chr10:3986200-3987800	Weak transcription	NHEK	skin
28	chr10:3986200-3988000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:3986200-3990600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:3986200-3992000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:3986400-3987800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr10:3986400-3988000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:3986600-3987800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr10:3986600-3991000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:3986800-3989200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:3987200-3988000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr10:3987200-3988000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:3987200-3989400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr10:3987200-3993800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:3987400-3987800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr10:3987400-3988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:3987400-3989000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr10:3987600-3988400	Weak transcription	Placenta	Placenta

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