Variant report

Variant	rs7701080
Chromosome Location	chr5:43632425-43632426
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43483568..43486519-chr5:43631124..43633907,2	K562	blood:
2	chr5:43554857..43557122-chr5:43630461..43632851,2	K562	blood:
3	chr5:43554857..43557297-chr5:43630461..43632851,3	K562	blood:
4	chr5:43481575..43484612-chr5:43631573..43633210,3	K562	blood:
5	chr5:43602718..43604322-chr5:43631428..43633428,2	K562	blood:
6	chr5:43623744..43627290-chr5:43630109..43632618,3	K562	blood:
7	chr5:43601980..43603531-chr5:43630724..43633453,2	K562	blood:
8	chr5:43627009..43629382-chr5:43631691..43634577,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10052717	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10054154	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10054206	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10058837	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10065095	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10067068	1.00[AMR][1000 genomes]
rs10078602	1.00[AMR][1000 genomes]
rs10472385	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10473316	1.00[ASN][1000 genomes]
rs10473317	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13355686	1.00[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13358229	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13359176	1.00[AMR][1000 genomes]
rs13360656	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs13360905	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13436624	1.00[AMR][1000 genomes]
rs28629332	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55912106	1.00[ASN][1000 genomes]
rs56222737	1.00[AMR][1000 genomes]
rs58623090	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59405308	1.00[AMR][1000 genomes]
rs59604594	1.00[AMR][1000 genomes]
rs59661208	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59750428	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60376053	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6883158	1.00[AMR][1000 genomes]
rs73751749	1.00[AMR][1000 genomes]
rs73751779	1.00[ASN][1000 genomes]
rs73751782	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751784	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73751785	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751786	1.00[ASN][1000 genomes]
rs73751787	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751789	1.00[ASN][1000 genomes]
rs73751792	1.00[ASN][1000 genomes]
rs73751793	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751795	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751797	1.00[ASN][1000 genomes]
rs73751798	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751801	1.00[AMR][1000 genomes]
rs73753610	1.00[AMR][1000 genomes]
rs73753611	1.00[AMR][1000 genomes]
rs7702908	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7719138	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7732460	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap]
rs9292888	1.00[ASN][1000 genomes]
rs9292889	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9292890	1.00[AMR][1000 genomes]
rs9654395	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604400-43635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
4	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
6	chr5:43604800-43635400	Weak transcription	Gastric	stomach
7	chr5:43604800-43635400	Weak transcription	Spleen	Spleen
8	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
10	chr5:43606400-43633600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:43608400-43633600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:43608400-43640600	Strong transcription	Dnd41	blood
14	chr5:43610800-43649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:43612600-43649400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:43612800-43647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:43613200-43635400	Weak transcription	Aorta	Aorta
18	chr5:43613400-43645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:43613800-43632600	Weak transcription	Ovary	ovary
20	chr5:43613800-43635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:43613800-43646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:43614000-43635600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:43614000-43647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:43616000-43648200	Weak transcription	HepG2	liver
25	chr5:43617000-43635600	Weak transcription	Fetal Kidney	kidney
26	chr5:43619000-43642800	Weak transcription	Fetal Brain Male	brain
27	chr5:43620000-43634800	Weak transcription	Fetal Brain Female	brain
28	chr5:43620200-43635400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:43620200-43650600	Weak transcription	Placenta	Placenta
30	chr5:43620400-43632600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:43621200-43650200	Weak transcription	NHEK	skin
32	chr5:43621600-43632600	Weak transcription	Fetal Intestine Large	intestine
33	chr5:43621600-43651800	Weak transcription	HMEC	breast
34	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:43622200-43648200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:43622400-43635000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:43622400-43635400	Weak transcription	HSMMtube	muscle
38	chr5:43623400-43645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:43623600-43635400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:43623800-43635200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:43624200-43649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:43624600-43632600	Weak transcription	Brain Anterior Caudate	brain
43	chr5:43624600-43634800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:43624800-43632600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:43626400-43635800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:43627400-43636200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:43627400-43636400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:43627600-43632600	Weak transcription	Psoas Muscle	Psoas
49	chr5:43628000-43633800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:43628200-43636600	Strong transcription	Primary T cells fromperipheralblood	blood

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