Variant report

Variant	rs530437324
Chromosome Location	chr19:39810745-39810746
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	ZBTB7A	chr19:39810478-39810911	K562	blood:	n/a	n/a
2	MXI1	chr19:39809950-39811697	SK-N-SH	brain:	n/a	n/a
3	YY1	chr19:39810579-39811652	K562	blood:	n/a	chr19:39811177-39811191 chr19:39810836-39810847
4	REST	chr19:39808605-39811614	PANC-1	pancreas:	n/a	chr19:39808983-39808996 chr19:39809350-39809364 chr19:39808986-39808999 chr19:39810047-39810057 chr19:39808979-39808999 chr19:39808979-39808999
5	MAX	chr19:39810691-39811550	K562	blood:	n/a	chr19:39810741-39810751 chr19:39810809-39810818
6	TCF12	chr19:39810657-39811360	A549	lung:	n/a	chr19:39811097-39811104
7	YY1	chr19:39810675-39810904	K562	blood:	n/a	chr19:39810836-39810847
8	ZBTB7A	chr19:39810552-39812252	ECC-1	luminal epithelium:	n/a	n/a
9	MAZ	chr19:39810645-39812178	IMR90	lung:	n/a	chr19:39810741-39810751 chr19:39810809-39810818
10	YY1	chr19:39810645-39810921	SK-N-SH_RA	brain:	n/a	chr19:39810836-39810847
11	MAX	chr19:39810658-39811676	A549	lung:	n/a	chr19:39810741-39810751 chr19:39810809-39810818
12	SIN3AK20	chr19:39808138-39811714	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39803732..39806747-chr19:39808288..39811295,3	MCF-7	breast:
2	chr19:39341602..39344396-chr19:39810637..39813386,2	K562	blood:
3	chr19:39684826..39687710-chr19:39809011..39811329,2	K562	blood:
4	chr19:39809900..39813494-chr19:39831059..39834441,3	MCF-7	breast:

Variant related genes	Relation type
LRFN1	TF binding region
ENSG00000130755	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000188505	Chromatin interaction
ENSG00000269246	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000128011	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	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv3373441	chr19:39810537-39813085	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3429395	chr19:39810562-39812810	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39798600-39810800	Weak transcription	Right Atrium	heart
2	chr19:39800600-39811000	Weak transcription	Small Intestine	intestine
3	chr19:39802600-39810800	Weak transcription	Right Ventricle	heart
4	chr19:39805800-39810800	Weak transcription	Liver	Liver
5	chr19:39806000-39810800	Weak transcription	Esophagus	oesophagus
6	chr19:39809600-39811000	Enhancers	Spleen	Spleen
7	chr19:39809600-39811200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:39809600-39811200	Enhancers	Fetal Heart	heart
9	chr19:39809800-39810800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:39809800-39810800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:39809800-39810800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr19:39809800-39810800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr19:39809800-39810800	Enhancers	Gastric	stomach
14	chr19:39809800-39810800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:39809800-39811200	Flanking Active TSS	Dnd41	blood
16	chr19:39809800-39812000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:39809800-39812200	Active TSS	Brain Cingulate Gyrus	brain
18	chr19:39810000-39810800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr19:39810000-39810800	Active TSS	Duodenum Mucosa	Duodenum
20	chr19:39810000-39811000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:39810000-39812000	Active TSS	Brain Anterior Caudate	brain
22	chr19:39810200-39810800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr19:39810200-39810800	Enhancers	Primary T cells from cord blood	blood
24	chr19:39810200-39810800	Enhancers	Colon Smooth Muscle	Colon
25	chr19:39810200-39810800	Enhancers	Fetal Brain Male	brain
26	chr19:39810200-39810800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr19:39810200-39810800	Enhancers	Fetal Thymus	thymus
28	chr19:39810200-39811000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr19:39810200-39811000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr19:39810200-39811000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr19:39810200-39811200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:39810200-39811200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr19:39810200-39811200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:39810200-39811200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:39810200-39811200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr19:39810200-39811200	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr19:39810200-39811200	Enhancers	Fetal Lung	lung
38	chr19:39810200-39812200	Active TSS	Fetal Kidney	kidney
39	chr19:39810400-39810800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:39810400-39810800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:39810400-39810800	Enhancers	Brain Substantia Nigra	brain
42	chr19:39810400-39810800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
43	chr19:39810400-39810800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr19:39810400-39810800	Active TSS	HUVEC	blood vessel
45	chr19:39810400-39811000	Flanking Active TSS	A549	lung
46	chr19:39810400-39811200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr19:39810400-39811200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr19:39810400-39811200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:39810400-39811200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:39810400-39811200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links