Variant report

Variant	rs36944
Chromosome Location	chr5:113696010-113696011
allele	A/C
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	MAX	chr5:113695943-113696433	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr5:113695904-113696201	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUN	chr5:113695938-113696182	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr5:113695995-113697202	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr5:113695946-113696289	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr5:113695715-113700201	H1-hESC	embryonic stem cell:	n/a	chr5:113698330-113698343 chr5:113695868-113695876
8	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
9	MYC	chr5:113695834-113696096	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:113695995-113698608	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
KCNN2	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10068757	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10519386	1.00[CHB][hapmap]
rs11241277	0.86[ASN][1000 genomes]
rs163207	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs163209	0.86[ASN][1000 genomes]
rs163306	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17136627	1.00[CHB][hapmap]
rs173991	1.00[ASN][1000 genomes]
rs1813839	1.00[CHB][hapmap]
rs337686	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs337688	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs337694	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs337696	0.86[ASN][1000 genomes]
rs337697	0.86[ASN][1000 genomes]
rs337698	0.86[ASN][1000 genomes]
rs337701	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs337702	0.86[ASN][1000 genomes]
rs337703	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs337706	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs337713	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs337715	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs337716	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs36937	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36940	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36941	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36943	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36948	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs402876	0.86[ASN][1000 genomes]
rs4705501	1.00[ASN][1000 genomes]
rs4705669	1.00[CHB][hapmap]
rs4705670	1.00[CHB][hapmap]
rs481248	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:37 , 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	chr5:113695600-113696200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:113695600-113698800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:113695600-113699200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr5:113695600-113700200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr5:113695600-113701000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:113695800-113696200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:113695800-113696200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:113695800-113696200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:113695800-113696400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:113695800-113696400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr5:113695800-113696600	Flanking Active TSS	Fetal Brain Female	brain
17	chr5:113695800-113697200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:113695800-113698800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:113695800-113700000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:113696000-113696200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:113696000-113696200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
22	chr5:113696000-113696200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:113696000-113696200	Enhancers	Brain Substantia Nigra	brain
24	chr5:113696000-113696200	Enhancers	Colon Smooth Muscle	Colon
25	chr5:113696000-113696200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:113696000-113696200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
27	chr5:113696000-113696400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:113696000-113696400	Enhancers	Liver	Liver
29	chr5:113696000-113696400	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr5:113696000-113696400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr5:113696000-113696400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:113696000-113696400	Bivalent Enhancer	HUVEC	blood vessel
33	chr5:113696000-113696600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr5:113696000-113696800	Enhancers	Fetal Heart	heart
35	chr5:113696000-113699000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:113696000-113699000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:113696000-113699600	Active TSS	Brain Anterior Caudate	brain

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