Variant report

Variant	rs2298977
Chromosome Location	chr4:110837573-110837574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110831685..110835620-chr4:110836473..110840110,4	K562	blood:

Variant related genes	Relation type
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10002971	0.85[EUR][1000 genomes]
rs10011112	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10014383	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10017261	0.91[EUR][1000 genomes]
rs10023272	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10029105	0.96[EUR][1000 genomes]
rs10029654	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10213531	0.95[EUR][1000 genomes]
rs1024600	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10470911	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10488881	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs11098056	0.91[EUR][1000 genomes]
rs11568903	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11568905	0.81[EUR][1000 genomes]
rs11568950	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11568972	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11568994	0.83[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs17238095	1.00[ASN][1000 genomes]
rs17253063	0.86[EUR][1000 genomes]
rs17316633	1.00[ASN][1000 genomes]
rs2024114	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067004	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2190909	0.94[EUR][1000 genomes]
rs2237041	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237045	0.95[EUR][1000 genomes]
rs2250616	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282785	0.96[EUR][1000 genomes]
rs2347136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28437404	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28535066	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28540029	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28564978	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28629923	0.95[EUR][1000 genomes]
rs28672708	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28734982	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764861	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3775967	0.98[EUR][1000 genomes]
rs3796945	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796946	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3822288	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4279279	0.93[EUR][1000 genomes]
rs4698755	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4698756	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs4698800	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4698801	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs62327602	1.00[ASN][1000 genomes]
rs62327604	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6533481	0.96[EUR][1000 genomes]
rs6837717	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6850557	0.80[JPT][hapmap]
rs7655579	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7668520	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7680062	0.80[EUR][1000 genomes]
rs881878	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307347	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9992755	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv1806286	chr4:110837287-110845707	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1811274	chr4:110837287-110845707	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1814770	chr4:110837287-110845707	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110833600-110838000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:110833800-110837600	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr4:110834000-110838400	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr4:110834400-110844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:110834600-110841800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:110835200-110842200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:110835800-110837600	Enhancers	Fetal Heart	heart
8	chr4:110836200-110837800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:110836200-110841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:110836400-110837800	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:110836400-110840000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:110836600-110839600	Weak transcription	Right Ventricle	heart
13	chr4:110836600-110842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:110836800-110837600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:110836800-110842400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:110836800-110842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:110836800-110849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:110837000-110837600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:110837000-110837800	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:110837000-110840400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:110837000-110842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:110837200-110837600	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr4:110837200-110837800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:110837200-110837800	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr4:110837200-110838000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:110837200-110839400	Weak transcription	Pancreas	Pancrea
27	chr4:110837200-110842000	Weak transcription	HSMMtube	muscle
28	chr4:110837400-110837600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:110837400-110837600	Enhancers	A549	lung
30	chr4:110837400-110837800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:110837400-110837800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:110837400-110837800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:110837400-110839600	Weak transcription	Psoas Muscle	Psoas
34	chr4:110837400-110842000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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