Variant report

Variant	rs57645874
Chromosome Location	chr14:35837476-35837477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr14:35836650-35837682	K562	blood:	n/a	n/a
2	POLR2A	chr14:35836012-35837693	K562	blood:	n/a	n/a
3	MYC	chr14:35836429-35837716	K562	blood:	n/a	chr14:35836884-35836894
4	ELF1	chr14:35836981-35837528	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:35836967-35837647	K562	blood:	n/a	n/a
6	RUNX3	chr14:35836518-35837660	GM12878	blood:	n/a	n/a
7	JUN	chr14:35834275-35837620	K562	blood:	n/a	chr14:35835528-35835536 chr14:35834851-35834860 chr14:35836358-35836366 chr14:35835528-35835536 chr14:35835529-35835536 chr14:35836354-35836365 chr14:35834867-35834877
8	MYC	chr14:35836514-35837543	K562	blood:	n/a	chr14:35836884-35836894
9	MTA3	chr14:35836386-35837702	GM12878	blood:	n/a	n/a
10	MTA3	chr14:35837406-35837695	GM12878	blood:	n/a	n/a
11	NR2F2	chr14:35836481-35837837	K562	blood:	n/a	n/a
12	RUNX3	chr14:35836587-35837651	GM12878	blood:	n/a	n/a
13	MAX	chr14:35836291-35837511	K562	blood:	n/a	chr14:35836884-35836894
14	POLR2A	chr14:35834440-35837595	K562	blood:	n/a	n/a
15	POU2F2	chr14:35836552-35837536	GM12891	blood:	n/a	chr14:35836938-35836953 chr14:35836942-35836949 chr14:35836940-35836950 chr14:35836939-35836953 chr14:35836941-35836950 chr14:35836939-35836951 chr14:35836940-35836950 chr14:35837153-35837165 chr14:35836995-35837007
16	UBTF	chr14:35837046-35837674	K562	blood:	n/a	n/a
17	IRF1	chr14:35836748-35837628	K562	blood:	n/a	n/a
18	PML	chr14:35836576-35837687	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:35836181-35837721	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21736090..21738167-chr14:35834973..35837752,2	MCF-7	breast:
2	chr14:35835946..35837731-chr14:35866883..35868831,2	K562	blood:
3	chr14:35799429..35801248-chr14:35836399..35837968,2	K562	blood:
4	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
5	chr14:35832015..35837880-chr14:35867331..35875279,15	K562	blood:
6	chr14:35761479..35764618-chr14:35836402..35840323,3	MCF-7	breast:
7	chr14:35821826..35833396-chr14:35833928..35840799,21	K562	blood:
8	chr14:35833474..35838463-chr14:35839143..35843538,8	K562	blood:
9	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:

Variant related genes	Relation type
ENSG00000258860	TF binding region
ENSG00000100902	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000258860	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10083375	0.91[EUR][1000 genomes]
rs10083387	0.91[EUR][1000 genomes]
rs10132397	0.91[EUR][1000 genomes]
rs10135277	0.91[EUR][1000 genomes]
rs10135435	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10136627	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10140133	0.89[EUR][1000 genomes]
rs10140922	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148567	0.87[EUR][1000 genomes]
rs10162508	0.82[EUR][1000 genomes]
rs11156884	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11625311	0.84[EUR][1000 genomes]
rs12385925	0.93[EUR][1000 genomes]
rs12432476	0.98[ASN][1000 genomes]
rs12435379	0.88[EUR][1000 genomes]
rs12436216	0.81[EUR][1000 genomes]
rs1475045	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2145623	0.86[ASN][1000 genomes]
rs28589517	0.89[EUR][1000 genomes]
rs28627414	0.85[EUR][1000 genomes]
rs4356377	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4981285	0.84[EUR][1000 genomes]
rs4981288	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4982258	0.91[EUR][1000 genomes]
rs4982259	0.90[EUR][1000 genomes]
rs4982260	0.91[EUR][1000 genomes]
rs4982261	0.91[EUR][1000 genomes]
rs4982262	0.91[EUR][1000 genomes]
rs4982265	0.94[EUR][1000 genomes]
rs4982267	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4982268	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58519555	0.93[EUR][1000 genomes]
rs72666622	0.88[EUR][1000 genomes]
rs72666634	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs762010	0.86[EUR][1000 genomes]
rs8003074	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv528501	chr14:35825436-35840678	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35831600-35837800	Enhancers	Osteobl	bone
3	chr14:35831600-35839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:35831600-35839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:35831800-35838000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:35833400-35838000	Enhancers	Fetal Intestine Small	intestine
7	chr14:35833400-35839200	Enhancers	Placenta	Placenta
8	chr14:35833600-35837600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:35834000-35837600	Enhancers	Fetal Intestine Large	intestine
10	chr14:35834200-35837800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:35834200-35837800	Enhancers	Spleen	Spleen
12	chr14:35834200-35838200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:35834200-35838400	Enhancers	NHLF	lung
14	chr14:35834200-35838600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:35834200-35838600	Enhancers	HSMMtube	muscle
16	chr14:35834200-35838600	Enhancers	NH-A	brain
17	chr14:35834200-35839400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:35834200-35839400	Enhancers	Stomach Smooth Muscle	stomach
19	chr14:35834200-35840000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:35834200-35840200	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:35834400-35837600	Enhancers	Brain Substantia Nigra	brain
22	chr14:35834400-35837600	Enhancers	Colonic Mucosa	Colon
23	chr14:35834400-35837600	Enhancers	Right Ventricle	heart
24	chr14:35834400-35837600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr14:35834400-35837800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:35834400-35837800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:35834400-35838000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:35834400-35838000	Enhancers	Left Ventricle	heart
29	chr14:35834400-35838000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:35834400-35838200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:35834400-35838200	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:35834400-35838200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:35834400-35838400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:35834400-35838400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:35834400-35838600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:35834400-35838600	Enhancers	Fetal Heart	heart
37	chr14:35834400-35838600	Enhancers	Right Atrium	heart
38	chr14:35834400-35839400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:35834400-35839600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:35834400-35839600	Enhancers	Fetal Muscle Leg	muscle
41	chr14:35834400-35839600	Enhancers	Thymus	Thymus
42	chr14:35834400-35839800	Enhancers	Adipose Nuclei	Adipose
43	chr14:35834400-35840200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr14:35834600-35838000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr14:35834800-35837800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr14:35834800-35838400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:35834800-35838600	Enhancers	HSMM	muscle
48	chr14:35834800-35839000	Enhancers	NHDF-Ad	bronchial
49	chr14:35835000-35838200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:35835200-35838000	Enhancers	Primary T cells from cord blood	blood

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