Variant report

Variant	rs60376053
Chromosome Location	chr5:43610351-43610352
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:43610059-43610473	K562	blood:	n/a	n/a
2	ZNF384	chr5:43610081-43610402	GM12878	blood:	n/a	n/a
3	RAD21	chr5:43609603-43610430	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr5:43609705-43610477	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:43554479..43560281-chr5:43606436..43612710,12	MCF-7	breast:
2	chr5:43609461..43611877-chr5:43618334..43620677,2	K562	blood:
3	chr5:43606933..43611774-chr5:43612584..43615643,4	MCF-7	breast:
4	chr5:43556272..43559075-chr5:43608717..43610456,2	K562	blood:
5	chr5:43545437..43548284-chr5:43610055..43612795,2	K562	blood:
6	chr5:43609541..43612732-chr5:43613991..43616836,3	MCF-7	breast:
7	chr5:43601278..43604489-chr5:43608532..43612501,5	MCF-7	breast:
8	chr5:43605782..43611658-chr5:43611810..43617296,10	K562	blood:

No data

Variant related genes	Relation type
NNT	TF binding region
ENSG00000112992	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000248092	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10052717	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10054154	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10054206	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10058837	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10065095	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10067068	1.00[AMR][1000 genomes]
rs10067571	0.89[AFR][1000 genomes]
rs10074298	1.00[AFR][1000 genomes]
rs10078602	1.00[AMR][1000 genomes]
rs10472384	1.00[AFR][1000 genomes]
rs10472385	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10473314	0.89[AFR][1000 genomes]
rs10473316	1.00[ASN][1000 genomes]
rs10473317	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13355686	1.00[ASN][1000 genomes]
rs13357169	0.95[AFR][1000 genomes]
rs13358229	1.00[ASN][1000 genomes]
rs13359176	1.00[AMR][1000 genomes]
rs13360656	1.00[ASN][1000 genomes]
rs13360905	1.00[ASN][1000 genomes]
rs13436624	1.00[AMR][1000 genomes]
rs28629332	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28710329	0.89[AFR][1000 genomes]
rs55912106	1.00[ASN][1000 genomes]
rs56222737	1.00[AMR][1000 genomes]
rs58107242	0.95[AFR][1000 genomes]
rs58623090	1.00[AFR][1000 genomes];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]
rs6883158	1.00[AMR][1000 genomes]
rs73751745	1.00[AFR][1000 genomes]
rs73751749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751779	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73751782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751784	1.00[ASN][1000 genomes]
rs73751785	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	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]
rs73754741	1.00[AFR][1000 genomes]
rs73754743	1.00[AFR][1000 genomes]
rs7701080	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7702908	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7719138	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7732460	1.00[AFR][1000 genomes]
rs9292888	1.00[ASN][1000 genomes]
rs9292889	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9292890	1.00[AMR][1000 genomes]
rs9654395	0.95[AFR][1000 genomes];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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604200-43631200	Weak transcription	A549	lung
2	chr5:43604400-43613000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:43604400-43613400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:43604400-43619400	Weak transcription	Placenta	Placenta
5	chr5:43604400-43619600	Weak transcription	HMEC	breast
6	chr5:43604400-43631200	Weak transcription	Pancreas	Pancrea
7	chr5:43604400-43635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
10	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:43604600-43611200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:43604600-43611400	Weak transcription	Hela-S3	cervix
13	chr5:43604600-43612000	Weak transcription	Aorta	Aorta
14	chr5:43604600-43614000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:43604600-43624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
17	chr5:43604800-43612200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:43604800-43612200	Weak transcription	NH-A	brain
19	chr5:43604800-43612400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:43604800-43613400	Weak transcription	Brain Substantia Nigra	brain
21	chr5:43604800-43630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:43604800-43630800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:43604800-43635400	Weak transcription	Gastric	stomach
24	chr5:43604800-43635400	Weak transcription	Spleen	Spleen
25	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:43605000-43613400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:43605000-43631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:43605000-43631400	Weak transcription	Lung	lung
29	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
30	chr5:43605200-43612000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:43605200-43612000	Weak transcription	Thymus	Thymus
32	chr5:43605200-43618400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:43605400-43614000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:43605800-43625200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:43606400-43633600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:43606800-43611400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:43607000-43614600	Strong transcription	Fetal Muscle Leg	muscle
39	chr5:43607000-43619600	Weak transcription	NHEK	skin
40	chr5:43607200-43610400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:43607200-43610600	Strong transcription	Fetal Stomach	stomach
42	chr5:43607400-43610400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:43607800-43624200	Strong transcription	Primary T cells from cord blood	blood
44	chr5:43607800-43628200	Weak transcription	Fetal Intestine Small	intestine
45	chr5:43608200-43615000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:43608200-43621400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:43608400-43617000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:43608400-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:43608400-43633600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr5:43608400-43640600	Strong transcription	Dnd41	blood

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