Variant report

Variant	rs568197912
Chromosome Location	chr19:22816899-22816900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:22816746-22816986	HL-60	blood:	n/a	n/a
2	MAX	chr19:22816756-22817240	NB4	blood:	n/a	chr19:22817012-22817022 chr19:22817016-22817026
3	GABPA	chr19:22816687-22817374	MCF-7	breast:	n/a	n/a
4	GABPA	chr19:22816749-22817586	MCF-7	breast:	n/a	n/a
5	PBX3	chr19:22816678-22817342	SK-N-SH	brain:	n/a	chr19:22816996-22817005 chr19:22816983-22817003 chr19:22816953-22816962
6	MYC	chr19:22816748-22817275	NB4	blood:	n/a	chr19:22817012-22817022 chr19:22817016-22817026
7	POLR2A	chr19:22816699-22817516	NB4	blood:	n/a	n/a
8	GABPA	chr19:22816662-22817286	HL-60	blood:	n/a	n/a
9	PBX3	chr19:22816765-22817206	SK-N-SH	brain:	n/a	chr19:22816996-22817005 chr19:22816983-22817003 chr19:22816953-22816962
10	POLR2A	chr19:22816643-22817011	SK-N-SH	brain:	n/a	n/a
11	ELF1	chr19:22816851-22817176	MCF-7	breast:	n/a	chr19:22817107-22817116 chr19:22817106-22817117
12	GABPA	chr19:22816642-22817382	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr19:22816675-22817497	MCF-7	breast:	n/a	n/a
14	MXI1	chr19:22816820-22817666	IMR90	lung:	n/a	n/a
15	GABPA	chr19:22816619-22817478	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr19:22816843-22817327	ProgFib	skin:	n/a	n/a
17	POLR2A	chr19:22816774-22816986	SK-N-SH	brain:	n/a	n/a
18	MXI1	chr19:22816466-22817708	SK-N-SH	brain:	n/a	n/a
19	GABPA	chr19:22816744-22817296	HL-60	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22816896-22816946	SKMC	muscle:	n/a
2	chr19:22816896-22816946	GM12878	blood:	n/a
3	chr19:22816896-22816946	AG09309	skin:	n/a
4	chr19:22816896-22816946	GM12891	blood:	n/a
5	chr19:22816896-22816946	AG04450	lung:	fetal
6	chr19:22816896-22816946	SK-N-SH	brain:	n/a
7	chr19:22816896-22816946	NHDF-neo	bronchial:	n/a
8	chr19:22816896-22816946	ovcar-3	ovarian:	n/a
9	chr19:22816896-22816946	PANC-1	pancreas:	n/a
10	chr19:22816896-22816946	SK-N-MC	brain:	n/a
11	chr19:22816896-22816946	HCM	heart:	n/a
12	chr19:22816896-22816946	HRE	kidney:	n/a
13	chr19:22816896-22816946	GM12892	blood:	n/a
14	chr19:22816896-22816946	HEK293	kidney:	embryo
15	chr19:22816896-22816946	HNPCEpiC	eye:	n/a
16	chr19:22816896-22816946	HIPEpiC	eye:	n/a
17	chr19:22816896-22816946	Jurkat	blood:	n/a
18	chr19:22816896-22816946	HL-60	blood:	n/a
19	chr19:22816896-22816946	A549	lung:	n/a
20	chr19:22816896-22816946	HRCEpiC	kidney:	n/a
21	chr19:22816896-22816946	HEEpiC	esophagus:	n/a
22	chr19:22816896-22816946	ECC-1	luminal epithelium:	n/a
23	chr19:22816896-22816946	T-47D	breast:	n/a
24	chr19:22816896-22816946	SAEC	small airway:	n/a
25	chr19:22816896-22816946	MCF10A-Er-Src	breast:	n/a
26	chr19:22816896-22816946	U87	brain:	n/a
27	chr19:22816896-22816946	NHBE	bronchial:	n/a
28	chr19:22816896-22816946	CMK	blood:	n/a
29	chr19:22816896-22816946	NB4	blood:	n/a
30	chr19:22816896-22816946	HCF	heart:	n/a
31	chr19:22816896-22816946	AG10803	skin:	n/a
32	chr19:22816896-22816946	AG09319	gingival:	n/a
33	chr19:22816896-22816946	HepG2	liver:	n/a
34	chr19:22816896-22816946	AoSMC	blood vessel:	n/a
35	chr19:22816896-22816946	IMR90	lung:	fetal
36	chr19:22816896-22816946	PFSK-1	brain:	n/a
37	chr19:22816896-22816946	MCF-7	breast:	n/a
38	chr19:22816896-22816946	NH-A	brain:	n/a
39	chr19:22816896-22816946	AG04449	skin:	fetal
40	chr19:22816896-22816946	PrEC	prostate:	n/a
41	chr19:22816896-22816946	HRPEpiC	eye:	n/a
42	chr19:22816896-22816946	BJ	skin:	n/a
43	chr19:22816896-22816946	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:22816896-22816946	LNCaP	prostate:	n/a
45	chr19:22816896-22816946	HUVEC	blood vessel:	n/a
46	chr19:22816896-22816946	NT2-D1	testis:	n/a
47	chr19:22816896-22816946	ProgFib	skin:	n/a
48	chr19:22816896-22816946	K562	blood:	n/a
49	chr19:22816896-22816946	RPTEC	kidney:	n/a
50	chr19:22816896-22816946	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
ZNF492	TF binding region
ZNF492	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360126	chr19:22209871-23199213	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3333410	chr19:22213338-23199725	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv525240	chr19:22250912-23216667	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
4	esv3363663	chr19:22320301-23103053	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv911439	chr19:22325391-22820798	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv911440	chr19:22325391-23216667	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv819194	chr19:22336264-23223696	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	nsv911443	chr19:22338142-22899585	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	nsv911444	chr19:22338142-23198437	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv911445	chr19:22346403-22899585	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv819205	chr19:22346403-23199700	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
12	nsv1064071	chr19:22359491-23153773	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv543957	chr19:22359491-23153773	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
14	nsv932157	chr19:22359492-23192975	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
15	esv3387241	chr19:22383621-23175441	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
16	nsv1059925	chr19:22408435-23083293	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
17	nsv1056393	chr19:22408435-23106126	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
18	esv3496801	chr19:22635989-23028182	Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
19	esv3496802	chr19:22635989-23028182	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
20	esv3529242	chr19:22650256-22863256	Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	esv3529243	chr19:22650256-22863256	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv978794	chr19:22815787-22837000	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22811400-22817200	Weak transcription	Spleen	Spleen
2	chr19:22815800-22817400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:22815800-22818000	Active TSS	Muscle Satellite Cultured Cells	--
4	chr19:22816200-22817200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:22816200-22817200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:22816200-22817400	Active TSS	Primary T cells from cord blood	blood
7	chr19:22816200-22817400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:22816200-22817400	Active TSS	Fetal Brain Female	brain
9	chr19:22816200-22817400	Active TSS	Stomach Smooth Muscle	stomach
10	chr19:22816200-22817800	Active TSS	Colonic Mucosa	Colon
11	chr19:22816200-22817800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr19:22816200-22818000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:22816200-22818400	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:22816200-22818400	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr19:22816400-22817200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:22816400-22817200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:22816400-22817200	Active TSS	Fetal Muscle Trunk	muscle
18	chr19:22816400-22817200	Active TSS	Placenta	Placenta
19	chr19:22816400-22817400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr19:22816400-22817400	Active TSS	Primary B cells from cord blood	blood
21	chr19:22816400-22817400	Active TSS	Primary T cells fromperipheralblood	blood
22	chr19:22816400-22817400	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr19:22816400-22817400	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr19:22816400-22817400	Active TSS	Brain Angular Gyrus	brain
25	chr19:22816400-22817400	Active TSS	Brain Germinal Matrix	brain
26	chr19:22816400-22817400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr19:22816400-22817400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr19:22816400-22817400	Active TSS	Fetal Brain Male	brain
29	chr19:22816400-22817400	Active TSS	Fetal Lung	lung
30	chr19:22816400-22817400	Active TSS	Fetal Muscle Leg	muscle
31	chr19:22816400-22817400	Active TSS	Fetal Stomach	stomach
32	chr19:22816400-22817400	Active TSS	Ovary	ovary
33	chr19:22816400-22817400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr19:22816400-22817400	Active TSS	Rectal Smooth Muscle	rectum
35	chr19:22816400-22817400	Active TSS	Right Atrium	heart
36	chr19:22816400-22817400	Active TSS	Thymus	Thymus
37	chr19:22816400-22817600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:22816400-22817600	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr19:22816400-22817600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr19:22816400-22817600	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr19:22816400-22817600	Active TSS	Brain Cingulate Gyrus	brain
42	chr19:22816400-22817600	Active TSS	Brain Hippocampus Middle	brain
43	chr19:22816400-22817600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr19:22816400-22817600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr19:22816400-22817800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:22816400-22817800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:22816400-22817800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr19:22816400-22817800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:22816400-22817800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:22816400-22817800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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