Variant report

Variant	rs62114302
Chromosome Location	chr19:37288814-37288815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37288226-37288827	HL-60	blood:	n/a	n/a
2	E2F6	chr19:37288158-37288820	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr19:37288166-37288825	SK-N-SH	brain:	n/a	n/a
4	GABPA	chr19:37288114-37288850	HL-60	blood:	n/a	n/a
5	MXI1	chr19:37287782-37289097	SK-N-SH	brain:	n/a	n/a
6	HA-E2F1	chr19:37288091-37288872	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:37288174-37288823	MCF-7	breast:	n/a	n/a
8	GABPA	chr19:37288133-37289055	MCF-7	breast:	n/a	n/a
9	POLR2A	chr19:37288193-37288870	H1-neurons	neurons:	n/a	n/a
10	REST	chr19:37288081-37288954	H1-neurons	neurons:	n/a	n/a
11	TAF1	chr19:37287925-37288859	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:37288031-37288869	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:37288168-37288823	SK-N-SH	brain:	n/a	n/a
14	MAX	chr19:37288159-37288855	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr19:37288226-37288831	H1-hESC	embryonic stem cell:	n/a	n/a
16	TBP	chr19:37288202-37288840	H1-hESC	embryonic stem cell:	n/a	n/a
17	RFX5	chr19:37287610-37289198	IMR90	lung:	n/a	chr19:37288329-37288345 chr19:37288350-37288365 chr19:37288330-37288344
18	CREB1	chr19:37288144-37288878	GM12878	blood:	n/a	n/a
19	YY1	chr19:37288281-37288852	SK-N-SH	brain:	n/a	n/a
20	GABPA	chr19:37288128-37288972	SK-N-SH	brain:	n/a	n/a
21	MYC	chr19:37288207-37288814	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr19:37288349-37288854	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:37288226-37288840	HL-60	blood:	n/a	n/a
24	RFX5	chr19:37287479-37289285	SK-N-SH	brain:	n/a	chr19:37288329-37288345 chr19:37288350-37288365 chr19:37288330-37288344
25	RFX5	chr19:37288075-37288868	H1-hESC	embryonic stem cell:	n/a	chr19:37288329-37288345 chr19:37288350-37288365 chr19:37288330-37288344
26	POLR2A	chr19:37287830-37288831	GM18505	blood:	n/a	n/a
27	MAX	chr19:37288129-37288889	MCF-7	breast:	n/a	n/a
28	POLR2A	chr19:37287904-37288825	GM19099	blood:	n/a	n/a
29	RUNX3	chr19:37288177-37288841	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:37288271-37288880	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr19:37288215-37288819	GM12892	blood:	n/a	n/a
32	YY1	chr19:37288243-37288848	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF7L2	chr19:37287917-37288907	PANC-1	pancreas:	n/a	n/a
34	MAX	chr19:37288345-37288852	A549	lung:	n/a	n/a
35	MAX	chr19:37288144-37288890	MCF-7	breast:	n/a	n/a
36	MXI1	chr19:37288085-37289019	IMR90	lung:	n/a	n/a
37	POLR2A	chr19:37288211-37288840	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:37288126-37288849	PANC-1	pancreas:	n/a	n/a
39	JUND	chr19:37288214-37288917	H1-hESC	embryonic stem cell:	n/a	chr19:37288241-37288250 chr19:37288303-37288313 chr19:37288376-37288385
40	ZBTB33	chr19:37288227-37288928	SK-N-SH	brain:	n/a	n/a
41	YY1	chr19:37288214-37288884	SK-N-SH_RA	brain:	n/a	n/a
42	POLR2A	chr19:37288144-37288815	GM12892	blood:	n/a	n/a
43	MAX	chr19:37288160-37288868	SK-N-SH	brain:	n/a	n/a
44	SIN3AK20	chr19:37288085-37288896	MCF-7	breast:	n/a	n/a
45	YY1	chr19:37288128-37288857	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:37288260-37288823	GM12878	blood:	n/a	n/a
47	ATF2	chr19:37288266-37288826	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr19:37288135-37288919	A549	lung:	n/a	n/a
49	POLR2A	chr19:37288167-37288839	GM12892	blood:	n/a	n/a
50	POLR2A	chr19:37288106-37288945	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37288793-37288843	HRCEpiC	kidney:	n/a
2	chr19:37288793-37288843	NB4	blood:	n/a
3	chr19:37288793-37288843	HRPEpiC	eye:	n/a
4	chr19:37288793-37288843	AG09319	gingival:	n/a
5	chr19:37288793-37288843	SK-N-MC	brain:	n/a
6	chr19:37288793-37288843	BJ	skin:	n/a
7	chr19:37288793-37288843	U87	brain:	n/a
8	chr19:37288793-37288843	K562	blood:	n/a
9	chr19:37288793-37288843	MCF-7	breast:	n/a
10	chr19:37288793-37288843	Hepatocyte	liver:	n/a
11	chr19:37288793-37288843	Caco-2	colon:	n/a
12	chr19:37288793-37288843	SAEC	small airway:	n/a
13	chr19:37288793-37288843	GM06990	blood:	n/a
14	chr19:37288793-37288843	GM12878	blood:	n/a
15	chr19:37288793-37288843	HRE	kidney:	n/a
16	chr19:37288793-37288843	SK-N-SH_RA	brain:	n/a
17	chr19:37288793-37288843	AG04449	skin:	fetal
18	chr19:37288793-37288843	ECC-1	luminal epithelium:	n/a
19	chr19:37288793-37288843	HCT-116	colon:	n/a
20	chr19:37288793-37288843	HUVEC	blood vessel:	n/a
21	chr19:37288793-37288843	NHDF-neo	bronchial:	n/a
22	chr19:37288793-37288843	PANC-1	pancreas:	n/a
23	chr19:37288793-37288843	Jurkat	blood:	n/a
24	chr19:37288793-37288843	Hela-S3	cervix:	n/a
25	chr19:37288793-37288843	IMR90	lung:	fetal
26	chr19:37288793-37288843	H1-hESC	embryonic stem cell:	embryo
27	chr19:37288793-37288843	MCF10A-Er-Src	breast:	n/a
28	chr19:37288793-37288843	GM19239	blood:	n/a
29	chr19:37288793-37288843	HNPCEpiC	eye:	n/a
30	chr19:37288793-37288843	HL-60	blood:	n/a
31	chr19:37288793-37288843	SKMC	muscle:	n/a
32	chr19:37288793-37288843	HPAEpiC	pulmonary alveolar:	n/a
33	chr19:37288793-37288843	HCPEpiC	choroid plexus:	n/a
34	chr19:37288793-37288843	HEEpiC	esophagus:	n/a
35	chr19:37288793-37288843	HEK293	kidney:	embryo
36	chr19:37288793-37288843	HCF	heart:	n/a
37	chr19:37288793-37288843	HAEpiC	amniotic membrane:	n/a
38	chr19:37288793-37288843	NH-A	brain:	n/a
39	chr19:37288793-37288843	GM12891	blood:	n/a
40	chr19:37288793-37288843	PrEC	prostate:	n/a
41	chr19:37288793-37288843	SK-N-SH	brain:	n/a
42	chr19:37288793-37288843	PFSK-1	brain:	n/a
43	chr19:37288793-37288843	HepG2	liver:	n/a
44	chr19:37288793-37288843	ovcar-3	ovarian:	n/a
45	chr19:37288793-37288843	HCM	heart:	n/a
46	chr19:37288793-37288843	RPTEC	kidney:	n/a
47	chr19:37288793-37288843	GM12892	blood:	n/a
48	chr19:37288793-37288843	LNCaP	prostate:	n/a
49	chr19:37288793-37288843	NT2-D1	testis:	n/a
50	chr19:37288793-37288843	AG04450	lung:	fetal

(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:

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62112482	1.00[AFR][1000 genomes]
rs62113161	1.00[AFR][1000 genomes]
rs62115569	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62115616	1.00[AFR][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:115 , 50 per page) page: 1 2 3

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

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