Variant report

Variant	rs4493449
Chromosome Location	chr3:160969268-160969269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160951586..160954326-chr3:160968656..160971619,2	K562	blood:
2	chr3:160968713..160970320-chr3:160973701..160975272,2	MCF-7	breast:
3	chr3:160946584..160950136-chr3:160968989..160972696,3	MCF-7	breast:
4	chr3:160966881..160969999-chr3:161088010..161091164,3	MCF-7	breast:
5	chr3:160938087..160941385-chr3:160967882..160971966,4	MCF-7	breast:
6	chr3:160962204..160965974-chr3:160967847..160971324,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271052	Chromatin interaction
ENSG00000169251	Chromatin interaction
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1037888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1154701	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs13083229	0.82[CEU][hapmap]
rs1382427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1478565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1478568	0.82[CEU][hapmap]
rs1599374	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs163327	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs163328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs189270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1993891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs336541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs336543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs336567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs336570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs336572	0.96[CEU][hapmap]
rs336577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs336580	0.96[CEU][hapmap]
rs336583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs336585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs336586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs336589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs336590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs336591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs336593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339101	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3849524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4273380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4290817	0.83[CEU][hapmap]
rs4370045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4414866	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs456611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4597724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs460508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs462514	0.85[CEU][hapmap]
rs463928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs464766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4856714	0.83[CEU][hapmap]
rs4856767	0.83[CEU][hapmap]
rs6441373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6762645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6765269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6774276	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs6775627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6789388	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6791213	0.82[CEU][hapmap]
rs6794601	1.00[CEU][hapmap]
rs7611367	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs7613358	0.83[CEU][hapmap]
rs7615592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7622047	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7623206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7631479	0.88[CEU][hapmap]
rs7632797	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs7633186	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs7652267	0.82[CEU][hapmap]
rs7653361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs898680	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs898681	1.00[CHB][hapmap]
rs9290065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs980975	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs980976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9815222	0.83[CEU][hapmap]
rs9821201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9850455	1.00[CEU][hapmap]
rs9870059	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9872514	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1015063	chr3:160918307-161024070	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv965228	chr3:160968916-160969759	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160939800-160995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:160940000-160971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:160940000-160977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:160941000-160969600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:160941000-160970200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:160941000-160974800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:160941000-160983000	Weak transcription	Spleen	Spleen
8	chr3:160941000-160984600	Weak transcription	Small Intestine	intestine
9	chr3:160941000-160993400	Weak transcription	Pancreas	Pancrea
10	chr3:160941200-160969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:160941200-160973400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:160941400-160971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:160941600-160969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:160941600-160975400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:160941800-160975200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:160942200-160973200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:160942400-160975200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:160942600-160971800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:160942600-160972600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:160942600-160973400	Strong transcription	Fetal Thymus	thymus
21	chr3:160942600-160975000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:160942600-160976600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:160942800-160971800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:160942800-160973800	Strong transcription	NH-A	brain
25	chr3:160942800-160978000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:160943600-160977200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:160946400-160972800	Strong transcription	HSMM	muscle
28	chr3:160947200-160972600	Weak transcription	Stomach Mucosa	stomach
29	chr3:160947400-160973600	Strong transcription	HUVEC	blood vessel
30	chr3:160948800-160971600	Weak transcription	Aorta	Aorta
31	chr3:160948800-160978000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:160949200-160971200	Weak transcription	Brain Substantia Nigra	brain
33	chr3:160949800-160971200	Weak transcription	Fetal Heart	heart
34	chr3:160950000-160969600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:160950000-160978000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:160950200-160976600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:160950600-160972800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:160950800-160971200	Strong transcription	NHDF-Ad	bronchial
39	chr3:160951000-160976600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:160951400-160970400	Strong transcription	Hela-S3	cervix
41	chr3:160951400-160973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:160951400-160975200	Strong transcription	Osteobl	bone
43	chr3:160951600-160975000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr3:160951600-160976600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:160952800-160969600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:160955000-160975400	Strong transcription	Fetal Intestine Large	intestine
47	chr3:160955600-160969800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:160955800-160971800	Strong transcription	Placenta	Placenta
49	chr3:160955800-160972800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr3:160955800-160973400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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