Variant report

Variant	rs6575980
Chromosome Location	chr14:103844655-103844656
allele	C/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	CBX3	chr14:103844276-103844860	K562	blood:	n/a	n/a
2	ATF1	chr14:103844312-103844806	K562	blood:	n/a	n/a
3	CREB1	chr14:103844509-103845253	HepG2	liver:	n/a	n/a
4	CBX3	chr14:103844376-103844817	K562	blood:	n/a	n/a
5	POLR2A	chr14:103844269-103844901	K562	blood:	n/a	n/a
6	EGR1	chr14:103844447-103844782	K562	blood:	n/a	n/a
7	ARID3A	chr14:103844351-103844769	K562	blood:	n/a	n/a
8	POLR2A	chr14:103844326-103844780	K562	blood:	n/a	n/a
9	POLR2A	chr14:103844300-103844821	K562	blood:	n/a	n/a
10	BHLHE40	chr14:103844335-103844922	K562	blood:	n/a	chr14:103844405-103844421
11	PML	chr14:103844322-103844773	K562	blood:	n/a	n/a
12	HEY1	chr14:103844308-103844738	K562	blood:	n/a	n/a
13	REST	chr14:103844331-103844782	K562	blood:	n/a	n/a
14	JUND	chr14:103844013-103844849	K562	blood:	n/a	chr14:103844756-103844764
15	CCNT2	chr14:103844225-103844900	K562	blood:	n/a	n/a
16	HDAC2	chr14:103844348-103844811	K562	blood:	n/a	chr14:103844532-103844541
17	STAT5A	chr14:103844259-103844856	K562	blood:	n/a	n/a
18	MXI1	chr14:103844408-103845052	K562	blood:	n/a	n/a
19	GATA1	chr14:103844351-103844699	K562	blood:	n/a	chr14:103844533-103844542 chr14:103844531-103844543 chr14:103844533-103844540
20	GATA2	chr14:103844309-103844787	K562	blood:	n/a	chr14:103844533-103844542 chr14:103844531-103844543 chr14:103844533-103844540
21	CEBPB	chr14:103844388-103844787	K562	blood:	n/a	n/a
22	NR2F2	chr14:103844198-103844984	K562	blood:	n/a	n/a
23	POLR2A	chr14:103844290-103844783	K562	blood:	n/a	n/a
24	NR2F2	chr14:103844362-103844889	K562	blood:	n/a	n/a
25	EP300	chr14:103844307-103844731	K562	blood:	n/a	n/a
26	GABPA	chr14:103844281-103844790	K562	blood:	n/a	n/a
27	TAL1	chr14:103844282-103844905	K562	blood:	n/a	n/a
28	ELF1	chr14:103844358-103844754	K562	blood:	n/a	n/a
29	HDAC2	chr14:103844339-103844802	K562	blood:	n/a	chr14:103844532-103844541
30	HNF4G	chr14:103844417-103845164	HepG2	liver:	n/a	chr14:103844784-103844796 chr14:103844782-103844797 chr14:103844784-103844796 chr14:103844782-103844797 chr14:103844782-103844797 chr14:103844783-103844798 chr14:103844782-103844797 chr14:103844784-103844797 chr14:103844783-103844796 chr14:103844782-103844797 chr14:103844784-103844797
31	UBTF	chr14:103844135-103845085	K562	blood:	n/a	n/a
32	RCOR1	chr14:103844011-103844905	K562	blood:	n/a	n/a
33	MYC	chr14:103844449-103844774	K562	blood:	n/a	n/a
34	TEAD4	chr14:103844264-103845111	K562	blood:	n/a	n/a
35	CEBPB	chr14:103844341-103844855	K562	blood:	n/a	n/a
36	POLR2A	chr14:103844549-103844988	HepG2	liver:	n/a	n/a
37	TBL1XR1	chr14:103844030-103844747	K562	blood:	n/a	n/a
38	SRF	chr14:103844369-103844751	K562	blood:	n/a	n/a
39	HMGN3	chr14:103844467-103844816	K562	blood:	n/a	chr14:103844534-103844541
40	MAFF	chr14:103844441-103844803	K562	blood:	n/a	n/a
41	MYC	chr14:103844252-103844860	K562	blood:	n/a	n/a
42	ZNF384	chr14:103844402-103844675	K562	blood:	n/a	n/a
43	GATA2	chr14:103844069-103844842	K562	blood:	n/a	chr14:103844201-103844211 chr14:103844533-103844542 chr14:103844531-103844543 chr14:103844533-103844540
44	STAT5A	chr14:103844301-103844762	K562	blood:	n/a	n/a
45	MAX	chr14:103844540-103844772	K562	blood:	n/a	n/a
46	TBL1XR1	chr14:103844358-103844856	K562	blood:	n/a	n/a
47	HNF4A	chr14:103844517-103845024	HepG2	liver:	n/a	chr14:103844784-103844796 chr14:103844782-103844797 chr14:103844784-103844796 chr14:103844782-103844797 chr14:103844782-103844797 chr14:103844782-103844797 chr14:103844782-103844797 chr14:103844784-103844797 chr14:103844783-103844796 chr14:103844782-103844797 chr14:103844784-103844797
48	RCOR1	chr14:103843893-103844897	K562	blood:	n/a	n/a
49	MAFK	chr14:103844413-103844798	K562	blood:	n/a	n/a
50	TAF1	chr14:103844327-103844718	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:103809174..103813493-chr14:103841708..103846208,8	K562	blood:
2	chr14:103839087..103841677-chr14:103842534..103845382,4	K562	blood:
3	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
4	chr14:103799924..103804064-chr14:103842479..103846418,7	K562	blood:
5	chr14:103833882..103836372-chr14:103843054..103845403,2	K562	blood:
6	chr14:103837722..103841762-chr14:103842534..103845975,6	K562	blood:
7	chr14:103798840..103802576-chr14:103844404..103847803,3	MCF-7	breast:
8	chr14:103842005..103845736-chr14:103851555..103855967,5	K562	blood:
9	chr14:103843587..103846122-chr14:103847414..103850857,4	K562	blood:
10	chr14:103842274..103847138-chr14:103849021..103854867,7	K562	blood:
11	chr14:103841048..103842744-chr14:103842766..103845551,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243904	TF binding region
ENSG00000075413	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000243904	Chromatin interaction
ENSG00000272533	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28634103	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28786172	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7144155	1.00[AMR][1000 genomes]
rs7157565	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7158630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359941	1.00[AMR][1000 genomes]
rs73359942	1.00[AMR][1000 genomes]
rs73359945	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359968	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103839200-103850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:103839600-103845200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:103839600-103850600	Weak transcription	Esophagus	oesophagus
4	chr14:103839800-103845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:103843800-103846200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:103844000-103845000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:103844000-103845200	Enhancers	Fetal Intestine Small	intestine
8	chr14:103844000-103845200	Flanking Active TSS	K562	blood
9	chr14:103844200-103845600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:103844400-103845600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr14:103844600-103845200	Enhancers	Fetal Muscle Leg	muscle
12	chr14:103844600-103845800	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr14:103844600-103849200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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