Variant report

Variant	rs55995417
Chromosome Location	chr19:37263878-37263879
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	CHD2	chr19:37263051-37264314	K562	blood:	n/a	chr19:37263916-37263926 chr19:37263749-37263758
2	MAX	chr19:37263473-37264257	A549	lung:	n/a	n/a
3	ETS1	chr19:37263532-37264209	K562	blood:	n/a	chr19:37263988-37264003 chr19:37263991-37264000 chr19:37263991-37264000 chr19:37263749-37263758 chr19:37264036-37264049 chr19:37263732-37263747 chr19:37263991-37264000 chr19:37263785-37263798 chr19:37263746-37263755 chr19:37263991-37264000 chr19:37263991-37264000 chr19:37263992-37264001 chr19:37263993-37264002 chr19:37263990-37264003 chr19:37263998-37264014 chr19:37263991-37264000
4	GATA1	chr19:37263598-37264133	PBDEFetal	blood:	n/a	chr19:37263962-37263971
5	TAF1	chr19:37263452-37264107	GM12878	blood:	n/a	n/a
6	CTCF	chr19:37263869-37264260	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIX5	chr19:37263526-37264312	H1-hESC	embryonic stem cell:	n/a	chr19:37263785-37263794 chr19:37263787-37263796 chr19:37263784-37263798 chr19:37264038-37264047 chr19:37264035-37264049 chr19:37264036-37264045
8	TBL1XR1	chr19:37263671-37264246	K562	blood:	n/a	n/a
9	TBP	chr19:37263226-37264180	GM12878	blood:	n/a	n/a
10	YY1	chr19:37263522-37264209	SK-N-SH_RA	brain:	n/a	n/a
11	GABPA	chr19:37263480-37264361	HL-60	blood:	n/a	n/a
12	POLR2A	chr19:37263152-37264102	MCF-7	breast:	n/a	n/a
13	MYC	chr19:37263614-37264417	H1-hESC	embryonic stem cell:	n/a	n/a
14	GABPA	chr19:37263523-37264345	K562	blood:	n/a	n/a
15	TBP	chr19:37263197-37264238	HepG2	liver:	n/a	n/a
16	HCFC1	chr19:37263528-37264306	K562	blood:	n/a	n/a
17	SIN3AK20	chr19:37263495-37264065	HepG2	liver:	n/a	n/a
18	ZBTB33	chr19:37263538-37264013	HCT-116	colon:	n/a	chr19:37263749-37263758
19	MAX	chr19:37262382-37264272	K562	blood:	n/a	n/a
20	BRCA1	chr19:37263550-37264226	H1-hESC	embryonic stem cell:	n/a	chr19:37263749-37263758
21	MAX	chr19:37263522-37264460	SK-N-SH	brain:	n/a	n/a
22	MXI1	chr19:37262372-37264557	IMR90	lung:	n/a	n/a
23	BRCA1	chr19:37263506-37264050	HepG2	liver:	n/a	chr19:37263749-37263758
24	POU2F2	chr19:37263164-37264213	GM12878	blood:	n/a	n/a
25	BCLAF1	chr19:37263431-37264244	GM12878	blood:	n/a	chr19:37263827-37263836 chr19:37263534-37263543 chr19:37263685-37263694
26	ELF1	chr19:37263653-37264126	A549	lung:	n/a	chr19:37263992-37264001
27	CREB1	chr19:37263466-37264373	HepG2	liver:	n/a	n/a
28	MAX	chr19:37263128-37264410	A549	lung:	n/a	n/a
29	TAL1	chr19:37263715-37264125	K562	blood:	n/a	chr19:37263961-37263969
30	ETS1	chr19:37263536-37264010	GM12878	blood:	n/a	chr19:37263988-37264003 chr19:37263991-37264000 chr19:37263991-37264000 chr19:37263749-37263758 chr19:37263732-37263747 chr19:37263991-37264000 chr19:37263785-37263798 chr19:37263746-37263755 chr19:37263991-37264000 chr19:37263991-37264000 chr19:37263992-37264001 chr19:37263993-37264002 chr19:37263990-37264003 chr19:37263991-37264000
31	CHD2	chr19:37263221-37264405	GM12878	blood:	n/a	chr19:37263916-37263926 chr19:37263749-37263758
32	ETS1	chr19:37263416-37264369	A549	lung:	n/a	chr19:37263988-37264003 chr19:37263991-37264000 chr19:37263991-37264000 chr19:37263749-37263758 chr19:37264036-37264049 chr19:37263732-37263747 chr19:37263991-37264000 chr19:37263785-37263798 chr19:37263746-37263755 chr19:37263991-37264000 chr19:37263991-37264000 chr19:37263992-37264001 chr19:37263993-37264002 chr19:37263990-37264003 chr19:37263998-37264014 chr19:37263991-37264000
33	MXI1	chr19:37263141-37264446	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:37262170-37264080	K562	blood:	n/a	n/a
35	POLR2A	chr19:37262025-37264230	GM12892	blood:	n/a	n/a
36	SP1	chr19:37263542-37264231	GM12878	blood:	n/a	n/a
37	GABPA	chr19:37263477-37264380	MCF-7	breast:	n/a	n/a
38	MXI1	chr19:37263150-37264249	HepG2	liver:	n/a	n/a
39	GABPA	chr19:37263434-37264227	GM12878	blood:	n/a	n/a
40	ZBTB33	chr19:37263600-37264132	HepG2	liver:	n/a	chr19:37263749-37263758
41	CHD1	chr19:37262581-37264423	H1-hESC	embryonic stem cell:	n/a	chr19:37263916-37263926 chr19:37263749-37263758
42	YY1	chr19:37263435-37264196	GM12878	blood:	n/a	n/a
43	ZBTB33	chr19:37263470-37264190	HepG2	liver:	n/a	chr19:37263749-37263758
44	POLR2A	chr19:37263295-37264407	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr19:37263456-37263907	HUVEC	blood vessel:	n/a	n/a
46	TAF1	chr19:37263544-37263986	SK-N-SH	brain:	n/a	n/a
47	TBL1XR1	chr19:37263548-37264430	GM12878	blood:	n/a	n/a
48	FOXM1	chr19:37263533-37263963	GM12878	blood:	n/a	n/a
49	RUNX3	chr19:37263118-37264293	GM12878	blood:	n/a	n/a
50	GABPA	chr19:37263567-37264200	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37263860-37263910	PrEC	prostate:	n/a
2	chr19:37263860-37263910	T-47D	breast:	n/a
3	chr19:37263860-37263910	RPTEC	kidney:	n/a
4	chr19:37263860-37263910	K562	blood:	n/a
5	chr19:37263860-37263910	ovcar-3	ovarian:	n/a
6	chr19:37263860-37263910	GM06990	blood:	n/a
7	chr19:37263860-37263910	AG04449	skin:	fetal
8	chr19:37263860-37263910	HCM	heart:	n/a
9	chr19:37263860-37263910	Caco-2	colon:	n/a
10	chr19:37263860-37263910	IMR90	lung:	fetal
11	chr19:37263860-37263910	GM19239	blood:	n/a
12	chr19:37263860-37263910	SAEC	small airway:	n/a
13	chr19:37263860-37263910	ProgFib	skin:	n/a
14	chr19:37263860-37263910	HMEC	breast:	n/a
15	chr19:37263860-37263910	MCF-7	breast:	n/a
16	chr19:37263860-37263910	HEK293	kidney:	embryo
17	chr19:37263860-37263910	HCF	heart:	n/a
18	chr19:37263860-37263910	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:37263860-37263910	NHDF-neo	bronchial:	n/a
20	chr19:37263860-37263910	HEEpiC	esophagus:	n/a
21	chr19:37263860-37263910	HRPEpiC	eye:	n/a
22	chr19:37263860-37263910	SK-N-MC	brain:	n/a
23	chr19:37263860-37263910	BE2_C	brain:	n/a
24	chr19:37263860-37263910	NT2-D1	testis:	n/a
25	chr19:37263860-37263910	HCT-116	colon:	n/a
26	chr19:37263860-37263910	GM12892	blood:	n/a
27	chr19:37263860-37263910	PFSK-1	brain:	n/a
28	chr19:37263860-37263910	HepG2	liver:	n/a
29	chr19:37263860-37263910	HCPEpiC	choroid plexus:	n/a
30	chr19:37263860-37263910	HAEpiC	amniotic membrane:	n/a
31	chr19:37263860-37263910	BJ	skin:	n/a
32	chr19:37263860-37263910	H1-hESC	embryonic stem cell:	embryo
33	chr19:37263860-37263910	ECC-1	luminal epithelium:	n/a
34	chr19:37263860-37263910	AG04450	lung:	fetal
35	chr19:37263860-37263910	HUVEC	blood vessel:	n/a
36	chr19:37263860-37263910	CMK	blood:	n/a
37	chr19:37263860-37263910	SK-N-SH_RA	brain:	n/a
38	chr19:37263860-37263910	AG09319	gingival:	n/a
39	chr19:37263860-37263910	SKMC	muscle:	n/a
40	chr19:37263860-37263910	LNCaP	prostate:	n/a
41	chr19:37263860-37263910	GM12878	blood:	n/a
42	chr19:37263860-37263910	AoSMC	blood vessel:	n/a
43	chr19:37263860-37263910	HRCEpiC	kidney:	n/a
44	chr19:37263860-37263910	PANC-1	pancreas:	n/a
45	chr19:37263860-37263910	GM12891	blood:	n/a
46	chr19:37263860-37263910	AG10803	skin:	n/a
47	chr19:37263860-37263910	A549	lung:	n/a
48	chr19:37263860-37263910	U87	brain:	n/a
49	chr19:37263860-37263910	HNPCEpiC	eye:	n/a
50	chr19:37263860-37263910	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:37063854..37065418-chr19:37262714..37265586,2	K562	blood:
2	chr19:36869355..36872280-chr19:37261242..37264152,2	MCF-7	breast:
3	chr19:36979208..36981780-chr19:37261367..37264210,2	K562	blood:
4	chr19:37017743..37019603-chr19:37263003..37264867,2	MCF-7	breast:

Variant related genes	Relation type
ZNF850	TF binding region
ENSG00000267260	TF binding region
ZNF850	CpG island
ENSG00000267260	CpG island
ENSG00000267363	Chromatin interaction
ENSG00000142065	Chromatin interaction
ENSG00000267309	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000186020	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4806352	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806366	1.00[ASN][1000 genomes]
rs55661810	1.00[ASN][1000 genomes]
rs55752123	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56148414	1.00[ASN][1000 genomes]
rs56333504	0.85[EUR][1000 genomes]
rs62115567	1.00[ASN][1000 genomes]
rs62115568	1.00[ASN][1000 genomes]
rs7246310	0.83[EUR][1000 genomes]
rs7249694	0.85[EUR][1000 genomes]
rs73037167	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73037169	0.85[EUR][1000 genomes]
rs73037172	0.85[EUR][1000 genomes]
rs73037195	1.00[ASN][1000 genomes]
rs73039109	0.87[ASN][1000 genomes]
rs8107274	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	esv1829205	chr19:37252164-37285622	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
16	nsv963041	chr19:37252526-37264177	Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
17	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	esv1827511	chr19:37261867-37283594	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55995417	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37260600-37265200	ZNF genes & repeats	A549	lung
2	chr19:37261600-37264400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:37261600-37264600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:37261800-37264200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:37261800-37264200	Active TSS	Fetal Kidney	kidney
6	chr19:37261800-37264200	Active TSS	Left Ventricle	heart
7	chr19:37261800-37264200	Active TSS	Ovary	ovary
8	chr19:37261800-37264200	Active TSS	Right Atrium	heart
9	chr19:37261800-37264200	Active TSS	Right Ventricle	heart
10	chr19:37261800-37264200	Active TSS	NH-A	brain
11	chr19:37261800-37264200	Active TSS	NHDF-Ad	bronchial
12	chr19:37261800-37264400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:37261800-37264600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:37261800-37264600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr19:37261800-37264600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:37261800-37264600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:37261800-37264600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:37261800-37264600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:37261800-37264600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:37261800-37264600	ZNF genes & repeats	Fetal Brain Male	brain
21	chr19:37261800-37264600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr19:37261800-37264600	Active TSS	HSMM	muscle
23	chr19:37261800-37264600	Active TSS	HSMMtube	muscle
24	chr19:37261800-37264600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr19:37261800-37264600	Active TSS	NHLF	lung
26	chr19:37261800-37265000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:37261800-37265600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr19:37262000-37264200	Active TSS	Esophagus	oesophagus
29	chr19:37262000-37264200	Active TSS	Fetal Lung	lung
30	chr19:37262000-37264200	Active TSS	Psoas Muscle	Psoas
31	chr19:37262000-37264400	Active TSS	Aorta	Aorta
32	chr19:37262000-37264400	Active TSS	Placenta Amnion	Placenta Amnion
33	chr19:37262000-37264600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:37262000-37264600	ZNF genes & repeats	Lung	lung
35	chr19:37262000-37264800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr19:37262200-37264000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:37262200-37264000	Active TSS	K562	blood
38	chr19:37262200-37264200	Active TSS	Fetal Heart	heart
39	chr19:37262200-37264200	Active TSS	Fetal Stomach	stomach
40	chr19:37262200-37264200	Active TSS	Gastric	stomach
41	chr19:37262200-37264600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:37262200-37264600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:37262200-37265000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr19:37262200-37265200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr19:37262200-37265400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr19:37262400-37264200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:37262400-37264200	Active TSS	Fetal Intestine Large	intestine
48	chr19:37262400-37264600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:37262400-37264600	Active TSS	Fetal Intestine Small	intestine
50	chr19:37262400-37265000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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