Variant report

Variant	rs12633553
Chromosome Location	chr3:150847966-150847967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150802574..150804801-chr3:150847603..150849880,2	MCF-7	breast:
2	chr3:150846331..150848398-chr3:150853442..150856842,3	MCF-7	breast:
3	chr3:150842359..150844988-chr3:150846770..150850038,3	K562	blood:

Variant related genes	Relation type
ENSG00000144893	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12631155	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12632109	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12632494	0.89[AFR][1000 genomes]
rs12633262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12635773	0.81[ASN][1000 genomes]
rs12636173	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12637362	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12638293	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16863151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16863248	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16863250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2060080	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2870415	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3773618	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3821666	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6440723	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6767615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6806896	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73155774	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915879	chr3:150607390-150860207	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv829756	chr3:150692636-150889738	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv877648	chr3:150792444-150895145	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:150826000-150855200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:150826400-150863600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:150826600-150851800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:150826600-150855000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:150827400-150873000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:150827600-150855000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:150830400-150863000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:150831200-150863000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:150833600-150852000	Weak transcription	Dnd41	blood
10	chr3:150840600-150853200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:150844000-150851800	Weak transcription	Fetal Thymus	thymus
12	chr3:150844600-150853400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:150844800-150863600	Weak transcription	Brain Angular Gyrus	brain
14	chr3:150844800-150863600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:150845600-150848400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:150845600-150851400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:150846200-150862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:150846400-150848000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:150846400-150850800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:150846400-150851000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:150846400-150852000	Weak transcription	Fetal Intestine Small	intestine
22	chr3:150846400-150863600	Weak transcription	Brain Anterior Caudate	brain
23	chr3:150846600-150848800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:150846600-150851200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:150846600-150853400	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:150846800-150848600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:150846800-150862600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:150847000-150855200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:150847200-150848400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:150847400-150849400	Enhancers	Placenta	Placenta
31	chr3:150847600-150848600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:150847600-150848600	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr3:150847600-150849400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:150847600-150849400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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