Variant report

Variant	rs17101478
Chromosome Location	chr14:24613439-24613440
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	POLR2A	chr14:24613144-24613600	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:24613235-24613621	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:24612548-24613627	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:24611861-24613727	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:24613111-24613612	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24581290..24596396-chr14:24599989..24617678,100	MCF-7	breast:
2	chr14:24613270..24615073-chr14:24616528..24618160,2	K562	blood:

Variant related genes	Relation type
RNF31	TF binding region
PSME2	TF binding region
EMC9	TF binding region
ENSG00000129535	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000259371	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11848386	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs17101347	0.83[YRI][hapmap]
rs61744791	0.83[AFR][1000 genomes]
rs8012480	0.92[AFR][1000 genomes]
rs916154	0.81[AFR][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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	nsv974317	chr14:24612043-24614614	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA	25 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24611200-24614000	Weak transcription	Small Intestine	intestine
2	chr14:24611400-24614600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:24611400-24614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:24611400-24614600	Weak transcription	Ovary	ovary
5	chr14:24611400-24614600	Weak transcription	Right Atrium	heart
6	chr14:24611400-24615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:24611400-24615400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:24611600-24614200	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:24611600-24614200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:24611600-24614600	Weak transcription	Adipose Nuclei	Adipose
11	chr14:24611600-24614600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:24611600-24614600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:24611600-24614600	Weak transcription	Brain Germinal Matrix	brain
14	chr14:24611600-24614600	Genic enhancers	Fetal Intestine Small	intestine
15	chr14:24611600-24614600	Weak transcription	Right Ventricle	heart
16	chr14:24611600-24614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:24611600-24614600	Weak transcription	HUVEC	blood vessel
18	chr14:24611600-24614800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:24611600-24614800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:24611600-24614800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:24611600-24614800	Weak transcription	Brain Substantia Nigra	brain
22	chr14:24611600-24615000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:24611600-24615000	Weak transcription	Fetal Kidney	kidney
24	chr14:24611600-24615000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:24611600-24615000	Genic enhancers	Fetal Thymus	thymus
26	chr14:24611600-24615000	Weak transcription	HSMMtube	muscle
27	chr14:24611600-24615200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:24611800-24613800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr14:24611800-24614200	Strong transcription	Fetal Muscle Leg	muscle
30	chr14:24611800-24614200	Weak transcription	Left Ventricle	heart
31	chr14:24611800-24614200	Weak transcription	Pancreas	Pancrea
32	chr14:24611800-24614200	Genic enhancers	Dnd41	blood
33	chr14:24611800-24614400	Genic enhancers	HepG2	liver
34	chr14:24611800-24614600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:24611800-24614600	Genic enhancers	Primary T cells from cord blood	blood
36	chr14:24611800-24614600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr14:24611800-24614600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:24611800-24614600	Weak transcription	Esophagus	oesophagus
39	chr14:24611800-24614600	Genic enhancers	Fetal Intestine Large	intestine
40	chr14:24611800-24614600	Strong transcription	Placenta	Placenta
41	chr14:24611800-24614600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:24611800-24615000	Weak transcription	Fetal Brain Female	brain
43	chr14:24612000-24613800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:24612000-24614000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:24612000-24614200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:24612000-24614200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:24612000-24614200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:24612000-24614200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:24612000-24614200	Weak transcription	Fetal Heart	heart
50	chr14:24612000-24614200	Strong transcription	A549	lung

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