Variant report

Variant	rs72906474
Chromosome Location	chr3:47817007-47817008
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47809807..47812260-chr3:47814251..47817184,2	K562	blood:
2	chr3:47809506..47818715-chr3:47820075..47824996,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173473	Chromatin interaction
ENSG00000266457	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11708849	0.85[ASN][1000 genomes]
rs11714942	0.82[ASN][1000 genomes]
rs13064183	0.82[ASN][1000 genomes]
rs13086149	0.85[ASN][1000 genomes]
rs13091913	0.84[ASN][1000 genomes]
rs13098128	0.82[ASN][1000 genomes]
rs1486915	0.86[ASN][1000 genomes]
rs17079785	0.82[ASN][1000 genomes]
rs34906469	0.85[ASN][1000 genomes]
rs35148469	0.82[ASN][1000 genomes]
rs35698005	0.81[ASN][1000 genomes]
rs4858857	0.85[ASN][1000 genomes]
rs61181421	0.82[ASN][1000 genomes]
rs6442082	0.82[ASN][1000 genomes]
rs6442083	0.82[ASN][1000 genomes]
rs6777632	0.81[ASN][1000 genomes]
rs6792350	0.81[ASN][1000 genomes]
rs6792737	0.81[ASN][1000 genomes]
rs72906488	0.84[ASN][1000 genomes]
rs7612219	0.82[ASN][1000 genomes]
rs7637372	0.81[ASN][1000 genomes]
rs7637950	0.81[ASN][1000 genomes]
rs9757517	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	nsv876759	chr3:47725315-47830741	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
5	nsv590233	chr3:47798700-47829277	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv965333	chr3:47815622-47845296	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47701600-47819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:47727600-47819400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:47769800-47817800	Weak transcription	Pancreas	Pancrea
4	chr3:47772800-47821000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:47774200-47820600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:47777000-47817600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:47777200-47819000	Weak transcription	Fetal Brain Male	brain
8	chr3:47777200-47819800	Weak transcription	Small Intestine	intestine
9	chr3:47777400-47819800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:47777400-47821000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:47777400-47821000	Weak transcription	Brain Substantia Nigra	brain
12	chr3:47777400-47821800	Weak transcription	Right Ventricle	heart
13	chr3:47777600-47820600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:47777600-47820800	Weak transcription	NHLF	lung
15	chr3:47784800-47820800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:47787400-47820800	Weak transcription	Brain Angular Gyrus	brain
17	chr3:47793000-47818000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:47794800-47819400	Weak transcription	Right Atrium	heart
19	chr3:47798800-47821000	Weak transcription	Brain Anterior Caudate	brain
20	chr3:47800000-47820800	Weak transcription	HSMMtube	muscle
21	chr3:47802800-47822000	Weak transcription	Aorta	Aorta
22	chr3:47804200-47819000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:47805200-47819000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:47805600-47820800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:47806200-47820800	Weak transcription	Colonic Mucosa	Colon
26	chr3:47806200-47821600	Weak transcription	Esophagus	oesophagus
27	chr3:47806600-47820400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:47808200-47820800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:47809800-47820800	Weak transcription	HMEC	breast
30	chr3:47811200-47821000	Weak transcription	Stomach Mucosa	stomach
31	chr3:47812000-47821000	Weak transcription	HSMM	muscle
32	chr3:47812200-47820600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:47813200-47819000	Weak transcription	Left Ventricle	heart
34	chr3:47813200-47821000	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:47813800-47821000	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:47814000-47819800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:47814000-47819800	Weak transcription	Gastric	stomach
38	chr3:47814000-47819800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:47814000-47820200	Weak transcription	Brain Germinal Matrix	brain
40	chr3:47814000-47820200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:47814200-47819400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:47814200-47820200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:47814200-47820600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:47814200-47820800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:47814200-47820800	Weak transcription	Fetal Kidney	kidney
46	chr3:47814400-47817200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:47814400-47817600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:47814400-47819000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:47814400-47819000	Weak transcription	Spleen	Spleen
50	chr3:47814400-47819400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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