Variant report

Variant	rs62381464
Chromosome Location	chr5:113696292-113696293
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	POLR2A	chr5:113695647-113697149	H1-neurons	neurons:	n/a	n/a
2	TBP	chr5:113696191-113696383	GM12878	blood:	n/a	n/a
3	YY1	chr5:113696143-113696911	H1-hESC	embryonic stem cell:	n/a	chr5:113696877-113696886 chr5:113696803-113696817 chr5:113696800-113696814
4	MAX	chr5:113695943-113696433	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:113696260-113698569	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr5:113696230-113696759	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTBP2	chr5:113696255-113699679	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr5:113695995-113697202	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr5:113696071-113698416	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr5:113696258-113696884	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr5:113695715-113700201	H1-hESC	embryonic stem cell:	n/a	chr5:113698330-113698343 chr5:113695868-113695876
12	REST	chr5:113695933-113698778	H1-neurons	neurons:	n/a	chr5:113698339-113698352 chr5:113697478-113697491 chr5:113697917-113697935 chr5:113696694-113696707 chr5:113698335-113698355 chr5:113697283-113697296 chr5:113698339-113698352 chr5:113697371-113697384 chr5:113698091-113698104
13	CHD1	chr5:113696281-113697150	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr5:113696208-113696883	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr5:113696230-113696759	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr5:113696044-113696603	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:113695995-113698608	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP1	chr5:113696106-113696948	H1-hESC	embryonic stem cell:	n/a	chr5:113696874-113696883 chr5:113696872-113696884 chr5:113696872-113696884 chr5:113696547-113696554
19	SMC3	chr5:113696284-113697028	GM12878	blood:	n/a	chr5:113696885-113696895

Variant related genes	Relation type
KCNN2	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs35301607	0.83[EUR][1000 genomes]
rs62378430	0.84[EUR][1000 genomes]
rs62379173	0.84[EUR][1000 genomes]
rs62379175	0.83[EUR][1000 genomes]
rs62381467	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62381469	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72799674	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72799694	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72801807	0.84[EUR][1000 genomes]
rs72801830	0.83[EUR][1000 genomes]
rs72801831	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882728	chr5:113651694-113731423	Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113695200-113698000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:113695200-113698400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:113695200-113698800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:113695200-113699400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr5:113695400-113699400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:113695600-113698800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:113695600-113699200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:113695600-113700200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:113695600-113701000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:113695800-113696400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:113695800-113696400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr5:113695800-113696600	Flanking Active TSS	Fetal Brain Female	brain
13	chr5:113695800-113697200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:113695800-113698800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr5:113695800-113700000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:113696000-113696400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:113696000-113696400	Enhancers	Liver	Liver
18	chr5:113696000-113696400	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr5:113696000-113696400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr5:113696000-113696400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:113696000-113696400	Bivalent Enhancer	HUVEC	blood vessel
22	chr5:113696000-113696600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr5:113696000-113696800	Enhancers	Fetal Heart	heart
24	chr5:113696000-113699000	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:113696000-113699000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:113696000-113699600	Active TSS	Brain Anterior Caudate	brain
27	chr5:113696200-113696400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:113696200-113696400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:113696200-113696400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:113696200-113696400	Active TSS	Brain Cingulate Gyrus	brain
31	chr5:113696200-113696400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr5:113696200-113696400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr5:113696200-113696400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr5:113696200-113696400	Active TSS	Fetal Brain Male	brain
35	chr5:113696200-113696400	Enhancers	Pancreas	Pancrea
36	chr5:113696200-113696400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
37	chr5:113696200-113696400	Bivalent Enhancer	Small Intestine	intestine
38	chr5:113696200-113696600	Bivalent Enhancer	Fetal Lung	lung
39	chr5:113696200-113697000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:113696200-113697600	Active TSS	Colon Smooth Muscle	Colon
41	chr5:113696200-113698400	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr5:113696200-113698600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:113696200-113698800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:113696200-113698800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:113696200-113698800	Active TSS	Right Ventricle	heart
46	chr5:113696200-113699200	Active TSS	Brain Substantia Nigra	brain
47	chr5:113696200-113699800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:113696200-113700200	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links