Variant report

Variant	rs223366
Chromosome Location	chr4:103765156-103765157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103756624..103759609-chr4:103761793..103765578,3	MCF-7	breast:
2	chr4:103764405..103765932-chr4:103779197..103781549,2	K562	blood:
3	chr4:103763663..103765375-chr4:103769517..103772269,2	K562	blood:
4	chr4:103758597..103760923-chr4:103762832..103765302,2	K562	blood:
5	chr4:103764361..103768086-chr4:103789621..103792929,5	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CISD2-1	chr4:103764481-103765232	ENSG00000246560

No data

Variant related genes	Relation type
ENSG00000145354	Chromatin interaction
ENSG00000252739	Chromatin interaction
ENSG00000238948	Chromatin interaction
ENSG00000109332	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10006474	0.89[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];0.93[YRI][hapmap]
rs10516495	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs10516496	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs11946020	0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];0.89[YRI][hapmap]
rs13150953	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs223331	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223361	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223374	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs223413	0.83[ASW][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs223471	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs223489	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs223490	0.90[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs34475639	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs4699048	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs6816370	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs6843738	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs7665026	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.82[MKK][hapmap]

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	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs223366	DKK2	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103750000-103770600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:103750600-103766400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:103750600-103767000	Weak transcription	Psoas Muscle	Psoas
4	chr4:103750600-103770400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:103750600-103771200	Weak transcription	Brain Angular Gyrus	brain
6	chr4:103750800-103765800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:103750800-103766000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:103750800-103766400	Weak transcription	Primary B cells from cord blood	blood
9	chr4:103750800-103766400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:103750800-103766600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:103750800-103771400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:103750800-103788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:103751000-103766400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:103751400-103766600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:103751600-103780200	Weak transcription	Dnd41	blood
16	chr4:103753600-103776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:103753800-103769600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:103754000-103766000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:103754000-103770800	Weak transcription	K562	blood
20	chr4:103754200-103768800	Weak transcription	Fetal Thymus	thymus
21	chr4:103755000-103767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:103755400-103769200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:103758200-103771200	Weak transcription	A549	lung
24	chr4:103760200-103772200	Weak transcription	Primary T cells from cord blood	blood
25	chr4:103761600-103779800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:103763400-103771400	Weak transcription	Fetal Stomach	stomach
27	chr4:103764400-103765600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:103764600-103765200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:103764600-103765800	Enhancers	HSMMtube	muscle
30	chr4:103764800-103765800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:103764800-103765800	Enhancers	NHDF-Ad	bronchial
32	chr4:103764800-103767200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:103765000-103765400	Strong transcription	Left Ventricle	heart
34	chr4:103765000-103765600	Enhancers	HSMM	muscle
35	chr4:103765000-103783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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