Variant report

Variant	rs66788052
Chromosome Location	chr7:111965366-111965367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111929064..111930733-chr7:111964333..111965879,2	K562	blood:
2	chr7:111957865..111960569-chr7:111963076..111967286,5	K562	blood:
3	chr7:111963557..111967020-chr7:111968697..111972390,4	K562	blood:
4	chr7:111957865..111959684-chr7:111963076..111965574,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016274	0.86[ASN][1000 genomes]
rs10224887	0.86[ASN][1000 genomes]
rs10252741	0.96[ASN][1000 genomes]
rs10253713	0.83[ASN][1000 genomes]
rs10272976	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11763356	0.82[ASN][1000 genomes]
rs11768719	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11769219	0.82[ASN][1000 genomes]
rs2107117	0.86[ASN][1000 genomes]
rs2188534	0.84[ASN][1000 genomes]
rs2249151	0.96[ASN][1000 genomes]
rs2249157	0.96[ASN][1000 genomes]
rs2520470	0.84[ASN][1000 genomes]
rs2520474	0.84[ASN][1000 genomes]
rs2520475	0.84[ASN][1000 genomes]
rs2520476	0.85[ASN][1000 genomes]
rs28781733	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28805003	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28817601	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3823514	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3823515	0.81[ASN][1000 genomes]
rs3948719	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730529	0.96[ASN][1000 genomes]
rs6944662	0.92[ASN][1000 genomes]
rs735150	0.96[ASN][1000 genomes]
rs7781261	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7781393	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][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	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
4	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers 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	8 gene(s)	inside rSNPs	diseases
5	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
3	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
5	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
8	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
9	chr7:111950200-111967400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:111956200-111977200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:111956200-111982400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:111956200-111983200	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:111957400-111980200	Weak transcription	NHDF-Ad	bronchial
14	chr7:111957600-111967600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:111957800-111980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:111958400-111966200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:111958600-111966000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:111958600-111968600	Strong transcription	Dnd41	blood
19	chr7:111958800-111968000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:111959000-111972400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:111959000-111982400	Weak transcription	HUVEC	blood vessel
23	chr7:111959200-111969400	Weak transcription	Stomach Mucosa	stomach
24	chr7:111959400-111967000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:111960400-111966000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
28	chr7:111961800-111986000	Weak transcription	K562	blood
29	chr7:111962000-111978800	Weak transcription	HSMM	muscle
30	chr7:111962200-111970400	Strong transcription	Liver	Liver
31	chr7:111962200-111971000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:111962200-111971000	Weak transcription	Fetal Brain Female	brain
33	chr7:111962200-111978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:111962200-111982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:111962400-111966000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:111962400-111967800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:111962400-111967800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:111962400-111969800	Weak transcription	HepG2	liver
39	chr7:111962400-111971000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:111962400-111977800	Weak transcription	Psoas Muscle	Psoas
41	chr7:111962600-111967400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:111962600-111972800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:111962800-111968600	Strong transcription	Primary T cells from cord blood	blood
44	chr7:111963000-111966400	Strong transcription	Ovary	ovary
45	chr7:111963000-111966600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:111963000-111967800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:111963200-111965400	Weak transcription	Spleen	Spleen
48	chr7:111963200-111966800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:111963200-111971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr7:111963200-111976400	Weak transcription	Fetal Heart	heart

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