Variant report

Variant	rs4808792
Chromosome Location	chr19:18491213-18491214
allele	C/T
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	NFIC	chr19:18490774-18491532	HepG2	liver:	n/a	n/a
2	MYC	chr19:18491176-18491501	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr19:18490807-18491526	Hela-S3	cervix:	n/a	chr19:18490960-18490971
4	YY1	chr19:18491167-18491420	K562	blood:	n/a	n/a
5	MAX	chr19:18491067-18491559	H1-hESC	embryonic stem cell:	n/a	chr19:18491143-18491153
6	EP300	chr19:18490665-18491546	HepG2	liver:	n/a	n/a
7	TCF7L2	chr19:18490843-18491514	MCF-7	breast:	n/a	n/a
8	NR2F2	chr19:18490871-18491326	K562	blood:	n/a	n/a
9	REST	chr19:18490805-18491513	HepG2	liver:	n/a	n/a
10	USF1	chr19:18490855-18491440	A549	lung:	n/a	n/a
11	MAZ	chr19:18490953-18491456	Hela-S3	cervix:	n/a	chr19:18491143-18491153
12	SIX5	chr19:18490901-18491213	A549	lung:	n/a	n/a
13	FOXM1	chr19:18490741-18491653	MCF-7	breast:	n/a	n/a
14	MXI1	chr19:18490901-18491518	Hela-S3	cervix:	n/a	n/a
15	MAX	chr19:18491097-18491609	SK-N-SH	brain:	n/a	chr19:18491143-18491153
16	MAX	chr19:18490731-18491560	K562	blood:	n/a	chr19:18491143-18491153
17	FOXM1	chr19:18490807-18491488	MCF-7	breast:	n/a	n/a
18	BRCA1	chr19:18490905-18491510	Hela-S3	cervix:	n/a	n/a
19	EP300	chr19:18490589-18491669	A549	lung:	n/a	n/a
20	FOXA1	chr19:18490686-18491494	HepG2	liver:	n/a	chr19:18491043-18491058
21	RCOR1	chr19:18490805-18491506	K562	blood:	n/a	n/a
22	JUN	chr19:18490638-18491735	K562	blood:	n/a	chr19:18491357-18491370
23	FOXA1	chr19:18490751-18491385	HepG2	liver:	n/a	chr19:18491043-18491058
24	TEAD4	chr19:18490748-18491592	K562	blood:	n/a	n/a
25	MAFK	chr19:18490777-18491376	HepG2	liver:	n/a	chr19:18490960-18490971
26	MYBL2	chr19:18490531-18491727	HepG2	liver:	n/a	n/a
27	MYC	chr19:18491140-18491464	MCF-7	breast:	n/a	chr19:18491143-18491153
28	HNF4A	chr19:18490777-18491442	HepG2	liver:	n/a	n/a
29	CBX3	chr19:18490798-18491475	K562	blood:	n/a	n/a
30	USF1	chr19:18490869-18491451	A549	lung:	n/a	n/a
31	ELK4	chr19:18490808-18491400	Hela-S3	cervix:	n/a	n/a
32	TCF12	chr19:18490721-18491592	MCF-7	breast:	n/a	n/a
33	TEAD4	chr19:18490462-18491625	HepG2	liver:	n/a	n/a
34	MAX	chr19:18490667-18491739	HCT-116	colon:	n/a	chr19:18491143-18491153
35	YY1	chr19:18490892-18491490	HepG2	liver:	n/a	chr19:18490906-18490925
36	FOXA1	chr19:18490624-18491443	HepG2	liver:	n/a	chr19:18491043-18491058
37	HNF4G	chr19:18490875-18491446	HepG2	liver:	n/a	chr19:18491196-18491211
38	SIN3AK20	chr19:18490617-18491705	MCF-7	breast:	n/a	n/a
39	TBP	chr19:18490961-18491431	HepG2	liver:	n/a	n/a
40	MAFF	chr19:18490793-18491426	HepG2	liver:	n/a	chr19:18490955-18490973
41	POLR2A	chr19:18490776-18491611	HCT-116	colon:	n/a	n/a
42	HEY1	chr19:18490747-18491829	HepG2	liver:	n/a	n/a
43	NFIC	chr19:18490964-18491676	ECC-1	luminal epithelium:	n/a	n/a
44	RCOR1	chr19:18490984-18491505	K562	blood:	n/a	n/a
45	CEBPB	chr19:18490555-18491327	A549	lung:	n/a	n/a
46	ATF1	chr19:18490964-18491519	K562	blood:	n/a	n/a
47	MAX	chr19:18490638-18491892	HCT-116	colon:	n/a	chr19:18491143-18491153
48	JUN	chr19:18490891-18491547	Hela-S3	cervix:	n/a	chr19:18491357-18491370
49	E2F6	chr19:18490817-18491726	A549	lung:	n/a	n/a
50	GABPA	chr19:18491105-18491496	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18490666..18491573-chr19:18557468..18558414,3	MCF-7	breast:
2	chr19:18490713..18491594-chr19:18557468..18558468,5	MCF-7	breast:

Variant related genes	Relation type
GDF15	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1055150	0.92[ASN][1000 genomes]
rs1059519	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12459566	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12459782	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2059039	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787023	0.94[ASN][1000 genomes]
rs3848646	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3848647	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3848648	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3848649	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4328570	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4808128	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808789	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808793	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808794	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55947999	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56033872	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6512262	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6512263	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6512264	0.95[EUR][1000 genomes]
rs6512265	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6512266	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7251610	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8101804	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8107264	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18485800-18496600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:18486400-18496600	Weak transcription	Fetal Kidney	kidney
4	chr19:18487400-18492000	Enhancers	Liver	Liver
5	chr19:18487800-18491400	Enhancers	A549	lung
6	chr19:18488600-18492200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:18488600-18496800	Enhancers	Placenta	Placenta
8	chr19:18489000-18491800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:18489400-18492000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr19:18489600-18491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:18489600-18492000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr19:18489800-18493600	Weak transcription	HSMM	muscle
13	chr19:18490000-18492800	Weak transcription	Spleen	Spleen
14	chr19:18490000-18496200	Weak transcription	Gastric	stomach
15	chr19:18490600-18491600	Enhancers	NHEK	skin
16	chr19:18490600-18491800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr19:18490600-18491800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:18490600-18492000	Enhancers	Pancreas	Pancrea
19	chr19:18490600-18492200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:18490800-18491400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:18490800-18491600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr19:18490800-18491600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:18490800-18491600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr19:18490800-18491600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:18490800-18491600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:18490800-18491600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:18490800-18491600	Enhancers	Aorta	Aorta
28	chr19:18490800-18491600	Flanking Active TSS	Hela-S3	cervix
29	chr19:18490800-18491600	Enhancers	NHLF	lung
30	chr19:18490800-18491800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:18490800-18491800	Enhancers	Colon Smooth Muscle	Colon
32	chr19:18490800-18491800	Enhancers	Duodenum Mucosa	Duodenum
33	chr19:18490800-18491800	Enhancers	Fetal Intestine Small	intestine
34	chr19:18490800-18491800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr19:18490800-18491800	Enhancers	Fetal Muscle Leg	muscle
36	chr19:18490800-18491800	Enhancers	Fetal Thymus	thymus
37	chr19:18490800-18491800	Enhancers	Right Atrium	heart
38	chr19:18490800-18491800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr19:18490800-18491800	Enhancers	NH-A	brain
40	chr19:18490800-18491800	Enhancers	NHDF-Ad	bronchial
41	chr19:18490800-18492000	Enhancers	Adipose Nuclei	Adipose
42	chr19:18490800-18492000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr19:18490800-18492000	Enhancers	Stomach Mucosa	stomach
44	chr19:18490800-18492200	Enhancers	Fetal Intestine Large	intestine
45	chr19:18491000-18491400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr19:18491000-18491400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:18491000-18491400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:18491000-18491400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:18491000-18491400	Enhancers	Brain Hippocampus Middle	brain
50	chr19:18491000-18491400	Enhancers	GM12878-XiMat	blood

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