Variant report

Variant	rs1220996
Chromosome Location	chr3:150929865-150929866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150869768..150872209-chr3:150929310..150930894,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10513390	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1221001	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1221005	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12497969	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12634353	0.82[CEU][hapmap]
rs1554121	0.91[ASW][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2048229	0.91[ASW][hapmap];0.89[CEU][hapmap];0.81[TSI][hapmap]
rs2567322	0.83[ASW][hapmap];0.89[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2700471	0.92[CHD][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2700473	0.91[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2700474	0.85[CHD][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs35995638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7629773	0.83[ASW][hapmap];0.85[CEU][hapmap]
rs891666	0.81[ASW][hapmap];0.89[CEU][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs977423	0.92[AMR][1000 genomes];0.90[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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
2	chr3:150908800-150933200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:150917000-150931600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:150919800-150933400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:150928200-150936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:150928800-150933600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:150928800-150943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:150928800-150946200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:150928800-150952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:150928800-150953000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:150929000-150931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:150929000-150933400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:150929000-150933600	Weak transcription	Adipose Nuclei	Adipose
14	chr3:150929000-150934000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:150929000-150934400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:150929000-150935000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:150929000-150938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:150929000-150943200	Weak transcription	Psoas Muscle	Psoas
19	chr3:150929000-150945200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:150929200-150931200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:150929200-150931600	Weak transcription	Dnd41	blood
22	chr3:150929200-150931800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:150929200-150932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:150929200-150932200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:150929200-150933600	Weak transcription	Fetal Heart	heart
26	chr3:150929200-150935000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:150929200-150938000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:150929200-150945400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:150929400-150930000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:150929400-150932000	Weak transcription	HepG2	liver
31	chr3:150929600-150931600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:150929600-150934200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:150929600-150939200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:150929800-150935200	Weak transcription	Liver	Liver

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