Variant report

Variant	rs555901219
Chromosome Location	chr19:19650979-19650980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr19:19650975-19651663	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr19:19650840-19651531	K562	blood:	n/a	n/a
3	MAX	chr19:19650788-19652305	ECC-1	luminal epithelium:	n/a	n/a
4	E2F6	chr19:19650689-19651436	H1-hESC	embryonic stem cell:	n/a	n/a
5	HMGN3	chr19:19650944-19651268	K562	blood:	n/a	n/a
6	E2F6	chr19:19650931-19651562	K562	blood:	n/a	n/a
7	GABPA	chr19:19650943-19651403	K562	blood:	n/a	n/a
8	MAX	chr19:19650965-19651405	K562	blood:	n/a	n/a
9	MAX	chr19:19650872-19652461	HCT-116	colon:	n/a	n/a
10	MAX	chr19:19650806-19651494	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr19:19650937-19651489	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr19:19650798-19651425	K562	blood:	n/a	n/a
13	CBX3	chr19:19650843-19651726	K562	blood:	n/a	n/a
14	E2F6	chr19:19650799-19651508	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr19:19650942-19652854	SK-N-SH	brain:	n/a	chr19:19652356-19652365
16	MAX	chr19:19650883-19652275	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19650978-19651028	HMEC	breast:	n/a
2	chr19:19650978-19651028	HAEpiC	amniotic membrane:	n/a
3	chr19:19650978-19651028	AG09319	gingival:	n/a
4	chr19:19650978-19651028	ECC-1	luminal epithelium:	n/a
5	chr19:19650978-19651028	ovcar-3	ovarian:	n/a
6	chr19:19650978-19651028	AG04449	skin:	fetal
7	chr19:19650978-19651028	PFSK-1	brain:	n/a
8	chr19:19650978-19651028	U87	brain:	n/a
9	chr19:19650978-19651028	GM12878	blood:	n/a
10	chr19:19650978-19651028	NT2-D1	testis:	n/a
11	chr19:19650978-19651028	GM12891	blood:	n/a
12	chr19:19650978-19651028	NHBE	bronchial:	n/a
13	chr19:19650978-19651028	GM12892	blood:	n/a
14	chr19:19650978-19651028	HRE	kidney:	n/a
15	chr19:19650978-19651028	HL-60	blood:	n/a
16	chr19:19650978-19651028	T-47D	breast:	n/a
17	chr19:19650978-19651028	NHDF-neo	bronchial:	n/a
18	chr19:19650978-19651028	HCT-116	colon:	n/a
19	chr19:19650978-19651028	AoSMC	blood vessel:	n/a
20	chr19:19650978-19651028	H1-hESC	embryonic stem cell:	embryo
21	chr19:19650978-19651028	ProgFib	skin:	n/a
22	chr19:19650978-19651028	LNCaP	prostate:	n/a
23	chr19:19650978-19651028	HIPEpiC	eye:	n/a
24	chr19:19650978-19651028	Jurkat	blood:	n/a
25	chr19:19650978-19651028	HepG2	liver:	n/a
26	chr19:19650978-19651028	SKMC	muscle:	n/a
27	chr19:19650978-19651028	Hela-S3	cervix:	n/a
28	chr19:19650978-19651028	HCM	heart:	n/a
29	chr19:19650978-19651028	AG09309	skin:	n/a
30	chr19:19650978-19651028	SK-N-SH	brain:	n/a
31	chr19:19650978-19651028	HCF	heart:	n/a
32	chr19:19650978-19651028	SK-N-MC	brain:	n/a
33	chr19:19650978-19651028	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:19650978-19651028	Caco-2	colon:	n/a
35	chr19:19650978-19651028	NB4	blood:	n/a
36	chr19:19650978-19651028	HUVEC	blood vessel:	n/a
37	chr19:19650978-19651028	BE2_C	brain:	n/a
38	chr19:19650978-19651028	HRPEpiC	eye:	n/a
39	chr19:19650978-19651028	RPTEC	kidney:	n/a
40	chr19:19650978-19651028	HEEpiC	esophagus:	n/a
41	chr19:19650978-19651028	GM19239	blood:	n/a
42	chr19:19650978-19651028	BJ	skin:	n/a
43	chr19:19650978-19651028	SK-N-SH_RA	brain:	n/a
44	chr19:19650978-19651028	MCF10A-Er-Src	breast:	n/a
45	chr19:19650978-19651028	AG10803	skin:	n/a
46	chr19:19650978-19651028	PANC-1	pancreas:	n/a
47	chr19:19650978-19651028	HNPCEpiC	eye:	n/a
48	chr19:19650978-19651028	A549	lung:	n/a
49	chr19:19650978-19651028	K562	blood:	n/a
50	chr19:19650978-19651028	SAEC	small airway:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19650831..19653075-chr19:20010995..20012617,3	K562	blood:
2	chr19:19649974..19652165-chr19:19739340..19740963,2	MCF-7	breast:
3	chr19:19650697..19653588-chr19:19753029..19754860,3	K562	blood:
4	chr19:19625369..19628375-chr19:19648780..19652325,4	MCF-7	breast:
5	chr19:19649331..19652417-chr19:19771491..19776120,6	K562	blood:
6	chr19:19649879..19653588-chr19:19753029..19755939,4	K562	blood:
7	chr19:19649600..19655493-chr19:19770960..19774805,7	K562	blood:

No data

Variant related genes	Relation type
CILP2	TF binding region
CILP2	CpG island
ENSG00000186010	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000184635	Chromatin interaction
ENSG00000267268	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000089639	Chromatin interaction
ENSG00000064547	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv911307	chr19:19631655-19657143	Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911308	chr19:19631655-19663850	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1807343	chr19:19639345-19669570	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	nsv543928	chr19:19649839-19664043	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19630600-19651800	Weak transcription	A549	lung
2	chr19:19643600-19675400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19648200-19651400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr19:19648200-19651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr19:19648400-19651400	Bivalent Enhancer	Fetal Stomach	stomach
6	chr19:19649200-19651400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:19649600-19651400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr19:19649600-19651400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:19649600-19651400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
10	chr19:19649600-19651400	Weak transcription	GM12878-XiMat	blood
11	chr19:19649800-19651000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:19649800-19651400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:19649800-19651400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr19:19649800-19651400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:19649800-19651400	Weak transcription	Brain Angular Gyrus	brain
16	chr19:19649800-19651600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:19649800-19651600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:19650000-19651000	Weak transcription	Right Ventricle	heart
19	chr19:19650000-19651400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:19650000-19651400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:19650000-19651400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:19650000-19651600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:19650000-19651600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:19650200-19651600	Bivalent Enhancer	Primary B cells from cord blood	blood
25	chr19:19650400-19651200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr19:19650400-19651400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:19650400-19651400	ZNF genes & repeats	Lung	lung
28	chr19:19650400-19651600	ZNF genes & repeats	Spleen	Spleen
29	chr19:19650400-19653000	Bivalent Enhancer	Placenta	Placenta
30	chr19:19650600-19651000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr19:19650600-19651200	Enhancers	Ovary	ovary
32	chr19:19650600-19651600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr19:19650600-19652600	Enhancers	Gastric	stomach
34	chr19:19650800-19651000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr19:19650800-19651000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:19650800-19651000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr19:19650800-19651000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:19650800-19651000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:19650800-19651000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:19650800-19651000	Bivalent Enhancer	Psoas Muscle	Psoas
41	chr19:19650800-19651000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr19:19650800-19651200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:19650800-19651200	Enhancers	Right Atrium	heart
44	chr19:19650800-19651200	Bivalent/Poised TSS	Thymus	Thymus
45	chr19:19650800-19651400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr19:19650800-19651400	Enhancers	Primary hematopoietic stem cells	blood
47	chr19:19650800-19651400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr19:19650800-19651400	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr19:19650800-19651400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr19:19650800-19651600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links