Variant report

Variant	rs4972385
Chromosome Location	chr2:149373947-149373948
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149372080..149375657-chr2:149400986..149403632,3	K562	blood:
2	chr2:149366286..149369702-chr2:149370979..149374487,6	K562	blood:
3	chr2:149262235..149263751-chr2:149373469..149375065,2	K562	blood:
4	chr2:149373185..149376135-chr2:149377268..149379383,2	K562	blood:

Variant related genes	Relation type
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12615627	0.80[EUR][1000 genomes]
rs12620020	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12622366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12691800	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12691802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13014625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13014829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1550858	0.93[EUR][1000 genomes]
rs16828718	0.87[CEU][hapmap]
rs1868396	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1868397	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1975596	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4609986	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972284	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4972376	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972379	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972382	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55933306	0.84[EUR][1000 genomes]
rs56797270	0.94[EUR][1000 genomes]
rs57835656	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6708007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005293	0.94[EUR][1000 genomes]
rs73005300	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73005302	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73007306	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73007314	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73007341	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73016733	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7579702	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7592968	0.87[CEU][hapmap]
rs7601936	0.87[CEU][hapmap]
rs9287418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs978509	0.88[CEU][hapmap]

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	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv1827161	chr2:149352353-149475737	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149371000-149374000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:149371000-149374600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:149371000-149374800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:149371200-149374800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:149371200-149374800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:149371200-149374800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:149371400-149374000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:149371400-149374000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:149371400-149374600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:149371600-149374400	Enhancers	Fetal Stomach	stomach
11	chr2:149371600-149375000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:149372000-149376600	Weak transcription	Aorta	Aorta
13	chr2:149372200-149374000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:149372800-149374000	Enhancers	Fetal Heart	heart
15	chr2:149372800-149377000	Weak transcription	Primary B cells from cord blood	blood
16	chr2:149373000-149374600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:149373400-149374200	Enhancers	Brain Hippocampus Middle	brain
18	chr2:149373400-149376600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:149373600-149374000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:149373600-149376000	Weak transcription	Placenta	Placenta
21	chr2:149373600-149376200	Weak transcription	Left Ventricle	heart
22	chr2:149373600-149376200	Weak transcription	Right Atrium	heart
23	chr2:149373600-149376200	Weak transcription	Right Ventricle	heart
24	chr2:149373600-149376600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:149373600-149377200	Weak transcription	GM12878-XiMat	blood
26	chr2:149373800-149374200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:149373800-149374400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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