Variant report

Variant	rs826967
Chromosome Location	chr19:37288454-37288455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37288309-37288747	GM12892	blood:	n/a	n/a
2	MYC	chr19:37288312-37288719	MCF-7	breast:	n/a	n/a
3	YY1	chr19:37288309-37288654	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:37288226-37288827	HL-60	blood:	n/a	n/a
5	GABPA	chr19:37288266-37288626	HepG2	liver:	n/a	n/a
6	GABPA	chr19:37288111-37288811	A549	lung:	n/a	n/a
7	KAP1	chr19:37288131-37288748	HEK293	kidney:	n/a	n/a
8	E2F6	chr19:37288158-37288820	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr19:37288309-37288666	H1-neurons	neurons:	n/a	n/a
10	TAF1	chr19:37288315-37288540	GM12891	blood:	n/a	n/a
11	USF1	chr19:37288237-37288532	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr19:37288444-37288522	MCF-7	breast:	n/a	n/a
13	MXI1	chr19:37288168-37288807	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr19:37288453-37288701	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:37288397-37288520	A549	lung:	n/a	n/a
16	POLR2A	chr19:37288270-37288678	GM12891	blood:	n/a	n/a
17	MAX	chr19:37288166-37288825	SK-N-SH	brain:	n/a	n/a
18	GABPA	chr19:37288114-37288850	HL-60	blood:	n/a	n/a
19	KAP1	chr19:37288170-37288759	U2OS	brain:	n/a	n/a
20	ELF1	chr19:37288195-37288718	MCF-7	breast:	n/a	n/a
21	POLR2A	chr19:37288269-37288650	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:37288332-37288592	Gliobla	brain:	n/a	n/a
23	MXI1	chr19:37287782-37289097	SK-N-SH	brain:	n/a	n/a
24	ELK1	chr19:37288289-37288535	GM12878	blood:	n/a	n/a
25	YY1	chr19:37288273-37288754	ECC-1	luminal epithelium:	n/a	n/a
26	HA-E2F1	chr19:37288091-37288872	MCF-7	breast:	n/a	n/a
27	TAF7	chr19:37288322-37288732	H1-hESC	embryonic stem cell:	n/a	n/a
28	EBF1	chr19:37288406-37288461	GM12878	blood:	n/a	n/a
29	SP1	chr19:37288061-37288592	H1-hESC	embryonic stem cell:	n/a	chr19:37288263-37288284 chr19:37288367-37288388 chr19:37288232-37288253
30	POLR2A	chr19:37288174-37288823	MCF-7	breast:	n/a	n/a
31	PBX3	chr19:37288168-37288491	A549	lung:	n/a	chr19:37288277-37288297 chr19:37288242-37288251
32	GABPA	chr19:37288130-37288782	HL-60	blood:	n/a	n/a
33	GABPA	chr19:37288133-37289055	MCF-7	breast:	n/a	n/a
34	MAX	chr19:37288191-37288791	ECC-1	luminal epithelium:	n/a	n/a
35	PML	chr19:37288331-37288619	GM12878	blood:	n/a	n/a
36	GABPA	chr19:37288193-37288645	K562	blood:	n/a	n/a
37	CTCF	chr19:37288400-37288550	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr19:37288193-37288870	H1-neurons	neurons:	n/a	n/a
39	REST	chr19:37288081-37288954	H1-neurons	neurons:	n/a	n/a
40	TAF1	chr19:37287925-37288859	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:37288031-37288869	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:37288252-37288789	PBDE	blood:	n/a	n/a
43	NFYB	chr19:37288052-37288487	K562	blood:	n/a	chr19:37288375-37288389 chr19:37288240-37288254 chr19:37288241-37288254 chr19:37288239-37288254 chr19:37288239-37288254 chr19:37288374-37288389 chr19:37288242-37288252
44	SP2	chr19:37288060-37288527	H1-hESC	embryonic stem cell:	n/a	chr19:37288376-37288386 chr19:37288276-37288299 chr19:37288241-37288251
45	POLR2A	chr19:37288168-37288823	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr19:37287872-37288794	GM18951	blood:	n/a	n/a
47	PBX3	chr19:37288124-37288705	SK-N-SH	brain:	n/a	chr19:37288277-37288297 chr19:37288242-37288251
48	ELF1	chr19:37288088-37288775	GM12878	blood:	n/a	n/a
49	BACH1	chr19:37288340-37288738	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr19:37288159-37288855	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37288450-37288500	PANC-1	pancreas:	n/a
2	chr19:37288450-37288500	K562	blood:	n/a
3	chr19:37288450-37288500	GM12891	blood:	n/a
4	chr19:37288450-37288500	SK-N-SH	brain:	n/a
5	chr19:37288450-37288500	Caco-2	colon:	n/a
6	chr19:37288450-37288500	T-47D	breast:	n/a
7	chr19:37288450-37288500	GM12878	blood:	n/a
8	chr19:37288450-37288500	BJ	skin:	n/a
9	chr19:37288450-37288500	ovcar-3	ovarian:	n/a
10	chr19:37288450-37288500	NHBE	bronchial:	n/a
11	chr19:37288450-37288500	AG10803	skin:	n/a
12	chr19:37288450-37288500	AG09319	gingival:	n/a
13	chr19:37288450-37288500	RPTEC	kidney:	n/a
14	chr19:37288450-37288500	HCM	heart:	n/a
15	chr19:37288450-37288500	LNCaP	prostate:	n/a
16	chr19:37288450-37288500	CMK	blood:	n/a
17	chr19:37288450-37288500	Hepatocyte	liver:	n/a
18	chr19:37288450-37288500	HepG2	liver:	n/a
19	chr19:37288450-37288500	AG04450	lung:	fetal
20	chr19:37288450-37288500	HIPEpiC	eye:	n/a
21	chr19:37288450-37288500	MCF10A-Er-Src	breast:	n/a
22	chr19:37288450-37288500	HRE	kidney:	n/a
23	chr19:37288450-37288500	AG09309	skin:	n/a
24	chr19:37288450-37288500	HCT-116	colon:	n/a
25	chr19:37288450-37288500	GM19239	blood:	n/a
26	chr19:37288450-37288500	NHDF-neo	bronchial:	n/a
27	chr19:37288450-37288500	H1-hESC	embryonic stem cell:	embryo
28	chr19:37288450-37288500	SAEC	small airway:	n/a
29	chr19:37288450-37288500	SK-N-SH_RA	brain:	n/a
30	chr19:37288450-37288500	NT2-D1	testis:	n/a
31	chr19:37288450-37288500	HUVEC	blood vessel:	n/a
32	chr19:37288450-37288500	HRCEpiC	kidney:	n/a
33	chr19:37288450-37288500	AoSMC	blood vessel:	n/a
34	chr19:37288450-37288500	AG04449	skin:	fetal
35	chr19:37288450-37288500	HEEpiC	esophagus:	n/a
36	chr19:37288450-37288500	A549	lung:	n/a
37	chr19:37288450-37288500	Jurkat	blood:	n/a
38	chr19:37288450-37288500	Hela-S3	cervix:	n/a
39	chr19:37288450-37288500	SK-N-MC	brain:	n/a
40	chr19:37288450-37288500	NB4	blood:	n/a
41	chr19:37288450-37288500	BE2_C	brain:	n/a
42	chr19:37288450-37288500	IMR90	lung:	fetal
43	chr19:37288450-37288500	HEK293	kidney:	embryo
44	chr19:37288450-37288500	ECC-1	luminal epithelium:	n/a
45	chr19:37288450-37288500	HL-60	blood:	n/a
46	chr19:37288450-37288500	PFSK-1	brain:	n/a
47	chr19:37288450-37288500	HCPEpiC	choroid plexus:	n/a
48	chr19:37288450-37288500	GM06990	blood:	n/a
49	chr19:37288450-37288500	GM12892	blood:	n/a
50	chr19:37288450-37288500	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37287538..37289947-chr19:37340425..37342708,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF345-1	chr19:37288452-37288713	NONHSAT066049

No data

Variant related genes	Relation type
ENSG00000267254	TF binding region
ENSG00000267254	CpG island
ENSG00000251247	Chromatin interaction
ENSG00000197863	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1035441	0.84[CHB][hapmap];0.83[YRI][hapmap]
rs11084867	0.84[CHB][hapmap]
rs1148399	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1227589	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1227799	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1227810	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1227819	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1227820	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1673086	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1726702	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2462577	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35488109	0.90[EUR][1000 genomes]
rs8106752	0.84[CHB][hapmap];0.91[YRI][hapmap]
rs826965	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
11	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
12	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
13	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
14	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
15	nsv963042	chr19:37271305-37296858	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking 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	6 gene(s)	inside rSNPs	n/a
16	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
17	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37286400-37289200	Active TSS	Placenta	Placenta
2	chr19:37287200-37288800	Active TSS	Primary T cells from cord blood	blood
3	chr19:37287200-37289000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr19:37287200-37289000	Active TSS	Brain Cingulate Gyrus	brain
5	chr19:37287200-37289200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:37287200-37289200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr19:37287400-37288600	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr19:37287400-37288600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr19:37287400-37288800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:37287400-37289000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:37287400-37289000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr19:37287400-37289000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr19:37287400-37289000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:37287400-37289000	Active TSS	Rectal Smooth Muscle	rectum
15	chr19:37287400-37289200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:37287400-37289200	Active TSS	Brain Hippocampus Middle	brain
17	chr19:37287400-37289200	Active TSS	Fetal Kidney	kidney
18	chr19:37287400-37289200	Active TSS	Ovary	ovary
19	chr19:37287400-37289200	Active TSS	Right Atrium	heart
20	chr19:37287400-37289200	Active TSS	HSMM	muscle
21	chr19:37287400-37289200	Active TSS	HUVEC	blood vessel
22	chr19:37287400-37289200	Active TSS	Osteobl	bone
23	chr19:37287400-37289400	Active TSS	Stomach Smooth Muscle	stomach
24	chr19:37287400-37289600	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr19:37287400-37289600	Active TSS	Brain Anterior Caudate	brain
26	chr19:37287400-37289800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:37287400-37290000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:37287400-37327400	ZNF genes & repeats	Liver	Liver
29	chr19:37287600-37288600	Active TSS	Primary B cells from cord blood	blood
30	chr19:37287600-37288800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:37287600-37288800	ZNF genes & repeats	Lung	lung
32	chr19:37287600-37289000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:37287600-37289000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr19:37287600-37289000	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr19:37287600-37289000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:37287600-37289000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr19:37287600-37289000	Active TSS	Aorta	Aorta
38	chr19:37287600-37289000	Active TSS	Brain Substantia Nigra	brain
39	chr19:37287600-37289000	Active TSS	Fetal Muscle Trunk	muscle
40	chr19:37287600-37289000	Active TSS	Psoas Muscle	Psoas
41	chr19:37287600-37289000	ZNF genes & repeats	Thymus	Thymus
42	chr19:37287600-37289200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr19:37287600-37289200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:37287600-37289200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:37287600-37289200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:37287600-37289200	Active TSS	Brain Angular Gyrus	brain
47	chr19:37287600-37289200	Active TSS	Fetal Intestine Large	intestine
48	chr19:37287600-37289200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr19:37287600-37289200	Active TSS	Fetal Lung	lung
50	chr19:37287600-37289200	Active TSS	Fetal Stomach	stomach

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