Variant report

Variant	rs397841638
Chromosome Location	chr19:51142031-51142032
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51142008-51142058	SAEC	small airway:	n/a
2	chr19:51142008-51142058	MCF10A-Er-Src	breast:	n/a
3	chr19:51142008-51142058	GM12878	blood:	n/a
4	chr19:51142008-51142058	K562	blood:	n/a
5	chr19:51142008-51142058	ovcar-3	ovarian:	n/a
6	chr19:51142008-51142058	AoSMC	blood vessel:	n/a
7	chr19:51142008-51142058	AG04450	lung:	fetal
8	chr19:51142008-51142058	HNPCEpiC	eye:	n/a
9	chr19:51142008-51142058	RPTEC	kidney:	n/a
10	chr19:51142008-51142058	ProgFib	skin:	n/a
11	chr19:51142008-51142058	BE2_C	brain:	n/a
12	chr19:51142008-51142058	HAEpiC	amniotic membrane:	n/a
13	chr19:51142008-51142058	GM12891	blood:	n/a
14	chr19:51142008-51142058	HMEC	breast:	n/a
15	chr19:51142008-51142058	PFSK-1	brain:	n/a
16	chr19:51142008-51142058	NH-A	brain:	n/a
17	chr19:51142008-51142058	HRE	kidney:	n/a
18	chr19:51142008-51142058	CMK	blood:	n/a
19	chr19:51142008-51142058	GM19239	blood:	n/a
20	chr19:51142008-51142058	PrEC	prostate:	n/a
21	chr19:51142008-51142058	HEK293	kidney:	embryo
22	chr19:51142008-51142058	T-47D	breast:	n/a
23	chr19:51142008-51142058	HL-60	blood:	n/a
24	chr19:51142008-51142058	HEEpiC	esophagus:	n/a
25	chr19:51142008-51142058	HCT-116	colon:	n/a
26	chr19:51142008-51142058	SKMC	muscle:	n/a
27	chr19:51142008-51142058	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:51142008-51142058	A549	lung:	n/a
29	chr19:51142008-51142058	NHBE	bronchial:	n/a
30	chr19:51142008-51142058	MCF-7	breast:	n/a
31	chr19:51142008-51142058	NHDF-neo	bronchial:	n/a
32	chr19:51142008-51142058	AG09319	gingival:	n/a
33	chr19:51142008-51142058	HRCEpiC	kidney:	n/a
34	chr19:51142008-51142058	U87	brain:	n/a
35	chr19:51142008-51142058	NT2-D1	testis:	n/a
36	chr19:51142008-51142058	GM06990	blood:	n/a
37	chr19:51142008-51142058	PANC-1	pancreas:	n/a
38	chr19:51142008-51142058	SK-N-SH_RA	brain:	n/a
39	chr19:51142008-51142058	Caco-2	colon:	n/a
40	chr19:51142008-51142058	AG04449	skin:	fetal
41	chr19:51142008-51142058	HCF	heart:	n/a
42	chr19:51142008-51142058	Hela-S3	cervix:	n/a
43	chr19:51142008-51142058	BJ	skin:	n/a
44	chr19:51142008-51142058	HCPEpiC	choroid plexus:	n/a
45	chr19:51142008-51142058	GM12892	blood:	n/a
46	chr19:51142008-51142058	AG09309	skin:	n/a
47	chr19:51142008-51142058	IMR90	lung:	fetal
48	chr19:51142008-51142058	HRPEpiC	eye:	n/a
49	chr19:51142008-51142058	HUVEC	blood vessel:	n/a
50	chr19:51142008-51142058	H1-hESC	embryonic stem cell:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51141748..51145368-chr19:51159075..51162375,5	MCF-7	breast:
2	chr19:51141693..51144819-chr19:51159818..51163424,3	K562	blood:
3	chr19:51140689..51143199-chr19:51151505..51153507,2	K562	blood:

No data

Variant related genes	Relation type
SYT3	CpG island
ENSG00000235034	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1062281	chr19:51053340-51230844	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1062548	chr19:51081358-51230844	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv828582	chr19:51140749-51142731	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv828583	chr19:51140752-51249837	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv912285	chr19:51141486-51236834	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv1433537	chr19:51142030-51142031	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51140000-51142200	Weak transcription	Pancreas	Pancrea
2	chr19:51141000-51143600	Active TSS	Brain Angular Gyrus	brain
3	chr19:51141200-51143600	Active TSS	Brain Cingulate Gyrus	brain
4	chr19:51141400-51142200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:51141400-51142200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:51141400-51142200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:51141400-51143600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr19:51141600-51143600	Active TSS	Brain Anterior Caudate	brain
9	chr19:51141600-51143800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:51141800-51142200	Bivalent/Poised TSS	Fetal Brain Male	brain
11	chr19:51141800-51142600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:51141800-51142600	Bivalent Enhancer	K562	blood
13	chr19:51141800-51143000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:51141800-51143000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr19:51142000-51142200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr19:51142000-51142200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:51142000-51142200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr19:51142000-51142200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:51142000-51142200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:51142000-51142200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
21	chr19:51142000-51142400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:51142000-51142400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:51142000-51142400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:51142000-51142400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:51142000-51142400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
26	chr19:51142000-51142400	Bivalent Enhancer	A549	lung
27	chr19:51142000-51142600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:51142000-51142600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr19:51142000-51142600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr19:51142000-51143400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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