Variant report

Variant	rs531153998
Chromosome Location	chr19:22235052-22235053
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	MXI1	chr19:22234820-22235864	SK-N-SH	brain:	n/a	n/a
2	CBX3	chr19:22234952-22235406	K562	blood:	n/a	n/a
3	NFYA	chr19:22235024-22235377	K562	blood:	n/a	chr19:22235229-22235243
4	ELF1	chr19:22235036-22235514	K562	blood:	n/a	chr19:22235265-22235278 chr19:22235502-22235514 chr19:22235266-22235277 chr19:22235266-22235277 chr19:22235267-22235276
5	ELF1	chr19:22234999-22235563	MCF-7	breast:	n/a	chr19:22235265-22235278 chr19:22235502-22235514 chr19:22235266-22235277 chr19:22235266-22235277 chr19:22235267-22235276
6	ELF1	chr19:22234960-22235593	MCF-7	breast:	n/a	chr19:22235265-22235278 chr19:22235502-22235514 chr19:22235266-22235277 chr19:22235266-22235277 chr19:22235267-22235276
7	PBX3	chr19:22234937-22235335	SK-N-SH	brain:	n/a	chr19:22235164-22235173
8	PBX3	chr19:22234973-22235426	SK-N-SH	brain:	n/a	chr19:22235164-22235173
9	POLR2A	chr19:22234949-22235456	K562	blood:	n/a	n/a
10	NFYB	chr19:22235030-22235443	K562	blood:	n/a	chr19:22235229-22235243
11	POLR2A	chr19:22235043-22235674	MCF-7	breast:	n/a	n/a
12	MAX	chr19:22234955-22235644	MCF-7	breast:	n/a	n/a
13	POLR2A	chr19:22234962-22235536	K562	blood:	n/a	n/a
14	GABPA	chr19:22235040-22235417	K562	blood:	n/a	n/a
15	ATF1	chr19:22235032-22235378	K562	blood:	n/a	n/a
16	ELF1	chr19:22234960-22235560	SK-N-SH	brain:	n/a	chr19:22235265-22235278 chr19:22235502-22235514 chr19:22235266-22235277 chr19:22235266-22235277 chr19:22235267-22235276
17	POLR2A	chr19:22234996-22235816	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr19:22235002-22235306	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22235022-22235072	AG04450	lung:	fetal
2	chr19:22235022-22235072	SK-N-SH	brain:	n/a
3	chr19:22235022-22235072	HCPEpiC	choroid plexus:	n/a
4	chr19:22235022-22235072	AoSMC	blood vessel:	n/a
5	chr19:22235022-22235072	SKMC	muscle:	n/a
6	chr19:22235022-22235072	HPAEpiC	pulmonary alveolar:	n/a
7	chr19:22235022-22235072	Jurkat	blood:	n/a
8	chr19:22235022-22235072	H1-hESC	embryonic stem cell:	embryo
9	chr19:22235022-22235072	T-47D	breast:	n/a
10	chr19:22235022-22235072	BE2_C	brain:	n/a
11	chr19:22235022-22235072	BJ	skin:	n/a
12	chr19:22235022-22235072	HCT-116	colon:	n/a
13	chr19:22235022-22235072	HEK293	kidney:	embryo
14	chr19:22235022-22235072	LNCaP	prostate:	n/a
15	chr19:22235022-22235072	IMR90	lung:	fetal
16	chr19:22235022-22235072	PrEC	prostate:	n/a
17	chr19:22235022-22235072	U87	brain:	n/a
18	chr19:22235022-22235072	HL-60	blood:	n/a
19	chr19:22235022-22235072	HCF	heart:	n/a
20	chr19:22235022-22235072	ECC-1	luminal epithelium:	n/a
21	chr19:22235022-22235072	HUVEC	blood vessel:	n/a
22	chr19:22235022-22235072	HRPEpiC	eye:	n/a
23	chr19:22235022-22235072	HCM	heart:	n/a
24	chr19:22235022-22235072	AG10803	skin:	n/a
25	chr19:22235022-22235072	HIPEpiC	eye:	n/a
26	chr19:22235022-22235072	NB4	blood:	n/a
27	chr19:22235022-22235072	GM19239	blood:	n/a
28	chr19:22235022-22235072	MCF10A-Er-Src	breast:	n/a
29	chr19:22235022-22235072	HEEpiC	esophagus:	n/a
30	chr19:22235022-22235072	SAEC	small airway:	n/a
31	chr19:22235022-22235072	GM12891	blood:	n/a
32	chr19:22235022-22235072	MCF-7	breast:	n/a
33	chr19:22235022-22235072	NHBE	bronchial:	n/a
34	chr19:22235022-22235072	HMEC	breast:	n/a
35	chr19:22235022-22235072	Caco-2	colon:	n/a
36	chr19:22235022-22235072	NH-A	brain:	n/a
37	chr19:22235022-22235072	AG04449	skin:	fetal
38	chr19:22235022-22235072	SK-N-MC	brain:	n/a
39	chr19:22235022-22235072	K562	blood:	n/a
40	chr19:22235022-22235072	GM06990	blood:	n/a
41	chr19:22235022-22235072	AG09309	skin:	n/a
42	chr19:22235022-22235072	NHDF-neo	bronchial:	n/a
43	chr19:22235022-22235072	HAEpiC	amniotic membrane:	n/a
44	chr19:22235022-22235072	ProgFib	skin:	n/a
45	chr19:22235022-22235072	SK-N-SH_RA	brain:	n/a
46	chr19:22235022-22235072	Hepatocyte	liver:	n/a
47	chr19:22235022-22235072	PANC-1	pancreas:	n/a
48	chr19:22235022-22235072	ovcar-3	ovarian:	n/a
49	chr19:22235022-22235072	AG09319	gingival:	n/a
50	chr19:22235022-22235072	Hela-S3	cervix:	n/a

Variant related genes	Relation type
ZNF257	TF binding region
ENSG00000269199	TF binding region
ZNF257	CpG island
ENSG00000269199	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv833785	chr19:22082143-22263312	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1058678	chr19:22084265-22288686	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1059225	chr19:22084265-22301003	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2754060	chr19:22086241-22567144	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv432039	chr19:22086260-22704860	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	esv3384540	chr19:22089182-22316805	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv3326382	chr19:22112592-22509135	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv3392637	chr19:22135121-22332040	ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv961196	chr19:22142802-22258858	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3514246	chr19:22145480-22348690	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv3514247	chr19:22145480-22348690	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv3495704	chr19:22149379-22352547	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	esv3495705	chr19:22149379-22352547	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv469674	chr19:22154515-22344992	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv436253	chr19:22188479-22385212	ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	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
20	esv3507723	chr19:22209960-22315161	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	esv3507724	chr19:22209960-22315161	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	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
23	nsv911434	chr19:22215457-22438069	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	esv3424104	chr19:22223429-22436512	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1064904	chr19:22229835-22408495	Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv543951	chr19:22229835-22408495	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	nsv911435	chr19:22233509-22317148	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22234200-22236600	Active TSS	K562	blood
2	chr19:22234400-22235200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr19:22234600-22235200	Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:22234600-22235600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:22234600-22235800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:22234600-22236000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:22234600-22236200	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr19:22234600-22236200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr19:22234800-22235200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr19:22234800-22235200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:22234800-22235200	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr19:22234800-22235400	Active TSS	Adipose Nuclei	Adipose
13	chr19:22234800-22235400	ZNF genes & repeats	Fetal Brain Female	brain
14	chr19:22234800-22235400	Active TSS	Placenta	Placenta
15	chr19:22234800-22235800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:22234800-22235800	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr19:22234800-22235800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:22234800-22235800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:22234800-22235800	Active TSS	Brain Substantia Nigra	brain
20	chr19:22234800-22235800	Active TSS	Psoas Muscle	Psoas
21	chr19:22234800-22235800	Active TSS	Rectal Smooth Muscle	rectum
22	chr19:22234800-22235800	Active TSS	HUVEC	blood vessel
23	chr19:22234800-22235800	Active TSS	Osteobl	bone
24	chr19:22234800-22236000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:22234800-22236000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:22234800-22236000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr19:22234800-22236000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr19:22234800-22236000	Active TSS	Fetal Intestine Large	intestine
29	chr19:22234800-22236000	Active TSS	Fetal Intestine Small	intestine
30	chr19:22234800-22236000	Active TSS	Fetal Kidney	kidney
31	chr19:22234800-22236000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr19:22234800-22236000	ZNF genes & repeats	Fetal Stomach	stomach
33	chr19:22234800-22236000	Active TSS	Left Ventricle	heart
34	chr19:22234800-22236000	Active TSS	Pancreas	Pancrea
35	chr19:22234800-22236000	Active TSS	Stomach Smooth Muscle	stomach
36	chr19:22234800-22236000	Active TSS	Thymus	Thymus
37	chr19:22234800-22236000	Active TSS	NHLF	lung
38	chr19:22234800-22236200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr19:22234800-22236200	Active TSS	Primary T cells from cord blood	blood
40	chr19:22234800-22236200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:22234800-22236200	Active TSS	Brain Angular Gyrus	brain
42	chr19:22234800-22236200	Active TSS	Brain Cingulate Gyrus	brain
43	chr19:22234800-22236200	Active TSS	Brain Hippocampus Middle	brain
44	chr19:22234800-22236200	Active TSS	Ovary	ovary
45	chr19:22234800-22236200	Active TSS	Right Atrium	heart
46	chr19:22234800-22236200	Active TSS	Right Ventricle	heart
47	chr19:22234800-22236400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:22234800-22236400	Active TSS	Brain Anterior Caudate	brain
49	chr19:22234800-22236400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr19:22234800-22236400	Active TSS	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links