Variant report

Variant	rs60305755
Chromosome Location	chr7:99488617-99488618
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99485783..99488764-chr7:99489956..99491818,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17161888	1.00[AMR][1000 genomes]
rs41301673	1.00[AMR][1000 genomes]
rs57028043	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57128906	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57263854	1.00[AMR][1000 genomes]
rs57403878	1.00[AMR][1000 genomes]
rs58602971	1.00[AMR][1000 genomes]
rs58604532	1.00[AMR][1000 genomes]
rs58730747	1.00[AMR][1000 genomes]
rs59053341	1.00[AMR][1000 genomes]
rs59687495	1.00[AMR][1000 genomes]
rs59900957	1.00[AMR][1000 genomes]
rs60684015	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	1.00[AMR][1000 genomes]
rs61648592	1.00[AMR][1000 genomes]
rs61687460	1.00[AMR][1000 genomes]
rs61742750	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393662	1.00[AMR][1000 genomes]
rs73395957	1.00[AMR][1000 genomes]
rs73403599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405419	1.00[AMR][1000 genomes]
rs73405431	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405465	1.00[AMR][1000 genomes]
rs73405469	1.00[AMR][1000 genomes]
rs73405474	1.00[AMR][1000 genomes]
rs73405480	1.00[AMR][1000 genomes]
rs73405481	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409513	1.00[AMR][1000 genomes]
rs73409528	1.00[AMR][1000 genomes]
rs73409529	1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv1792388	chr7:99468155-99497338	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv966726	chr7:99473527-99488698	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99458200-99489600	Weak transcription	Pancreas	Pancrea
2	chr7:99470000-99489600	Weak transcription	Gastric	stomach
3	chr7:99472600-99488800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:99479200-99488800	Weak transcription	Thymus	Thymus
5	chr7:99479800-99499200	Weak transcription	Small Intestine	intestine
6	chr7:99485200-99499000	Weak transcription	Psoas Muscle	Psoas
7	chr7:99485400-99489000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:99485600-99498200	Weak transcription	NHDF-Ad	bronchial
9	chr7:99485800-99488800	Weak transcription	A549	lung
10	chr7:99485800-99489200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:99485800-99495400	Weak transcription	GM12878-XiMat	blood
12	chr7:99485800-99498200	Weak transcription	HSMMtube	muscle
13	chr7:99485800-99498800	Weak transcription	K562	blood
14	chr7:99486000-99489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:99486000-99497400	Weak transcription	Esophagus	oesophagus
16	chr7:99486400-99501000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:99486600-99498000	Weak transcription	NH-A	brain
18	chr7:99486800-99490600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:99486800-99491200	Strong transcription	Primary T cells from cord blood	blood
20	chr7:99486800-99498800	Weak transcription	HUVEC	blood vessel
21	chr7:99486800-99499200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:99487000-99489800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:99487000-99490000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:99487000-99490200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:99487000-99490200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:99487000-99490200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:99487000-99490200	Strong transcription	Fetal Thymus	thymus
28	chr7:99487000-99490400	Strong transcription	Adipose Nuclei	Adipose
29	chr7:99487000-99490400	Strong transcription	Placenta	Placenta
30	chr7:99487000-99490600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:99487000-99490600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:99487000-99490600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr7:99487000-99490600	Strong transcription	Right Ventricle	heart
34	chr7:99487000-99490600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:99487000-99490600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:99487200-99489000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr7:99487200-99489800	Strong transcription	Brain Substantia Nigra	brain
38	chr7:99487200-99490000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:99487200-99490000	Weak transcription	NHEK	skin
40	chr7:99487200-99490200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:99487200-99490200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr7:99487200-99490400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:99487200-99490600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:99487200-99490600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:99487200-99490600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:99487200-99490600	Strong transcription	Brain Anterior Caudate	brain
47	chr7:99487200-99490600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr7:99487200-99490600	Strong transcription	Brain Hippocampus Middle	brain
49	chr7:99487200-99490600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:99487200-99490600	Strong transcription	Fetal Muscle Trunk	muscle

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