Variant report

Variant	rs4982366
Chromosome Location	chr14:21272236-21272237
allele	C/G
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	GATA1	chr14:21271521-21272428	PBDE	blood:	n/a	chr14:21271670-21271677 chr14:21271671-21271688 chr14:21271666-21271682 chr14:21271663-21271684 chr14:21271670-21271677 chr14:21271667-21271677 chr14:21271670-21271677

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21271784..21274543-chr14:21277067..21280059,3	K562	blood:

Variant related genes	Relation type
RNASE1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17096637	1.00[EUR][1000 genomes]
rs17096638	1.00[EUR][1000 genomes]
rs2245824	1.00[EUR][1000 genomes]
rs2741728	1.00[EUR][1000 genomes]
rs2771328	1.00[EUR][1000 genomes]
rs2771330	1.00[EUR][1000 genomes]
rs2771331	1.00[EUR][1000 genomes]
rs2771333	1.00[EUR][1000 genomes]
rs2783783	1.00[EUR][1000 genomes]
rs2783790	1.00[EUR][1000 genomes]
rs35226165	1.00[EUR][1000 genomes]
rs56928205	1.00[EUR][1000 genomes]
rs57459416	1.00[EUR][1000 genomes]
rs57763153	1.00[EUR][1000 genomes]
rs58418541	1.00[EUR][1000 genomes]
rs58984932	1.00[EUR][1000 genomes]
rs59183792	1.00[EUR][1000 genomes]
rs59793479	1.00[EUR][1000 genomes]
rs59845330	1.00[EUR][1000 genomes]
rs60909508	1.00[EUR][1000 genomes]
rs73574048	1.00[EUR][1000 genomes]
rs73574054	1.00[EUR][1000 genomes]
rs73576004	1.00[EUR][1000 genomes]
rs73582001	1.00[EUR][1000 genomes]
rs74034604	1.00[EUR][1000 genomes]
rs74034609	1.00[EUR][1000 genomes]

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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21268600-21272600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr14:21268600-21274000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:21268600-21274000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:21268600-21279800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:21270000-21278000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:21270400-21279800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:21270800-21272800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:21271000-21272600	Weak transcription	Spleen	Spleen
9	chr14:21271000-21274000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr14:21271000-21275200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:21271000-21280200	Weak transcription	Gastric	stomach
12	chr14:21271200-21275600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:21271400-21272400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:21271400-21273200	Enhancers	K562	blood
15	chr14:21271400-21273400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:21271400-21273800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:21271400-21275600	Weak transcription	Fetal Lung	lung
18	chr14:21271400-21276400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:21271400-21277200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:21271400-21277200	Enhancers	Stomach Mucosa	stomach
21	chr14:21271400-21278000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:21271400-21279000	Weak transcription	Placenta	Placenta
23	chr14:21271600-21272400	Weak transcription	Lung	lung
24	chr14:21271600-21272600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:21271600-21273000	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:21271600-21273600	Enhancers	Brain Hippocampus Middle	brain
27	chr14:21271600-21273800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:21271600-21274600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:21271600-21275200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:21271600-21275400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:21271600-21275400	Weak transcription	Fetal Intestine Large	intestine
32	chr14:21271600-21275600	Weak transcription	Colonic Mucosa	Colon
33	chr14:21271600-21276800	Weak transcription	Adipose Nuclei	Adipose
34	chr14:21271600-21277600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:21271600-21278000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:21271600-21280200	Weak transcription	Right Ventricle	heart
37	chr14:21271800-21273000	Enhancers	Brain Substantia Nigra	brain
38	chr14:21271800-21275400	Weak transcription	Fetal Intestine Small	intestine
39	chr14:21272000-21274400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:21272000-21274400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:21272000-21275800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:21272000-21276800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:21272200-21272400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:21272200-21273000	Enhancers	Pancreas	Pancrea
45	chr14:21272200-21275400	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links