Variant report

Variant	rs60142519
Chromosome Location	chr3:150323701-150323702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr3:150322763-150324154	GM12878	blood:	n/a	n/a
2	ZNF384	chr3:150323428-150324317	K562	blood:	n/a	chr3:150323746-150323754
3	POLR2A	chr3:150323458-150324248	K562	blood:	n/a	n/a
4	TBL1XR1	chr3:150323543-150324191	K562	blood:	n/a	n/a
5	TEAD4	chr3:150323692-150324282	K562	blood:	n/a	n/a
6	ARID3A	chr3:150323499-150324298	K562	blood:	n/a	n/a
7	MYC	chr3:150323650-150324188	K562	blood:	n/a	n/a
8	ZNF384	chr3:150323698-150324187	GM12878	blood:	n/a	chr3:150323746-150323754

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:150262614..150266370-chr3:150321478..150325578,8	K562	blood:
2	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
3	chr3:150262051..150264965-chr3:150323680..150325279,2	MCF-7	breast:
4	chr3:150320056..150325236-chr3:150328045..150333634,6	MCF-7	breast:
5	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
6	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
7	chr3:150319883..150326696-chr3:150327224..150333205,16	MCF-7	breast:
8	chr3:150319507..150322947-chr3:150323371..150327466,9	MCF-7	breast:

No data

Variant related genes	Relation type
SERP1	TF binding region
ENSG00000271711	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000120742	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11548666	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921309	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11922033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924919	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11927175	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11927998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11929205	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12107730	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17214539	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17214746	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17440940	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915945	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1965473	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2030530	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293150	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293151	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55707430	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55723846	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56208302	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56217437	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59885545	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61019785	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61667461	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001317	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001332	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001341	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001347	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001362	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001363	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001365	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73003042	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7430992	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7650013	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150320000-150323800	Active TSS	A549	lung
2	chr3:150320000-150324000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr3:150321600-150324400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:150322000-150324400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr3:150322000-150325200	Weak transcription	Spleen	Spleen
6	chr3:150322200-150323800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:150322200-150323800	Weak transcription	Gastric	stomach
8	chr3:150322200-150323800	Weak transcription	Left Ventricle	heart
9	chr3:150322200-150323800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:150322200-150323800	Weak transcription	Small Intestine	intestine
11	chr3:150322200-150324000	Enhancers	Fetal Heart	heart
12	chr3:150322200-150324000	Weak transcription	Ovary	ovary
13	chr3:150322200-150324000	Weak transcription	Pancreas	Pancrea
14	chr3:150322200-150324400	Weak transcription	Aorta	Aorta
15	chr3:150322200-150325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:150322200-150325200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:150322200-150325200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:150322200-150325200	Weak transcription	Brain Substantia Nigra	brain
19	chr3:150322200-150325200	Weak transcription	Esophagus	oesophagus
20	chr3:150322200-150327000	Weak transcription	Lung	lung
21	chr3:150322200-150329400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:150322200-150336400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:150322200-150347000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:150322400-150323800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:150322400-150323800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr3:150322400-150323800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:150322400-150323800	Weak transcription	Thymus	Thymus
28	chr3:150322400-150324000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:150322400-150324000	Enhancers	Liver	Liver
30	chr3:150322400-150324000	Enhancers	Rectal Smooth Muscle	rectum
31	chr3:150322400-150324000	Weak transcription	Right Atrium	heart
32	chr3:150322400-150324200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr3:150322400-150324400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr3:150322400-150324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:150322400-150325000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:150322400-150325200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:150322400-150325200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:150322400-150325200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:150322400-150325200	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:150322400-150325200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:150322400-150325200	Weak transcription	Psoas Muscle	Psoas
42	chr3:150322400-150325400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr3:150322400-150326000	Enhancers	Brain Hippocampus Middle	brain
44	chr3:150322400-150326400	Weak transcription	Fetal Brain Female	brain
45	chr3:150322400-150329000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr3:150322400-150336200	Weak transcription	Fetal Kidney	kidney
47	chr3:150322400-150344000	Weak transcription	HSMMtube	muscle
48	chr3:150322400-150350800	Weak transcription	Colonic Mucosa	Colon
49	chr3:150322400-150353000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:150322600-150323800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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