Variant report

Variant	rs2072337
Chromosome Location	chr17:19843005-19843006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19840864..19845443-chr17:19846835..19853734,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11204422	0.89[JPT][hapmap]
rs11870381	0.90[JPT][hapmap]
rs12451841	0.90[JPT][hapmap]
rs12947713	0.90[JPT][hapmap]
rs1638526	1.00[JPT][hapmap]
rs17686798	0.90[JPT][hapmap]
rs17759959	0.90[JPT][hapmap]
rs28424266	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4141185	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4924808	0.90[JPT][hapmap]
rs4925075	0.90[JPT][hapmap]
rs4925082	0.90[JPT][hapmap]
rs59294806	0.89[ASN][1000 genomes]
rs6587207	0.90[JPT][hapmap]
rs7207459	0.90[JPT][hapmap]
rs7209653	1.00[JPT][hapmap]
rs7215803	0.90[JPT][hapmap]
rs7224875	0.90[JPT][hapmap]
rs73303979	1.00[ASN][1000 genomes]
rs8065122	0.85[ASN][1000 genomes]
rs8068484	0.90[JPT][hapmap]
rs8075343	0.90[JPT][hapmap]
rs8080190	0.90[JPT][hapmap]
rs888424	0.90[JPT][hapmap]
rs9893296	0.90[ASN][1000 genomes]
rs9901294	1.00[JPT][hapmap]
rs9915039	0.90[JPT][hapmap]

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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19802800-19844400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:19802800-19846400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:19802800-19852400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr17:19803000-19851800	Strong transcription	Fetal Thymus	thymus
5	chr17:19803600-19845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:19803600-19848000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:19804000-19844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr17:19804000-19853000	Strong transcription	Dnd41	blood
9	chr17:19806200-19844000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:19806200-19844600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr17:19806400-19846200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:19807800-19843800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:19812200-19845400	Strong transcription	Liver	Liver
14	chr17:19816800-19844400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:19817800-19844200	Weak transcription	Stomach Mucosa	stomach
16	chr17:19819600-19844600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:19824800-19844200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:19824800-19845800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:19825000-19843600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:19825000-19845200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:19825200-19848400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:19825200-19851800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:19827600-19851600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr17:19827600-19852800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr17:19830000-19843200	Strong transcription	Fetal Stomach	stomach
26	chr17:19830000-19843400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:19830600-19851200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:19831600-19843400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:19831600-19851400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr17:19831800-19843800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:19832000-19844200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:19832000-19845200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:19832000-19845400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr17:19832200-19844400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:19836200-19845200	Strong transcription	Thymus	Thymus
36	chr17:19836600-19845200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:19837400-19843600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr17:19837400-19843600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr17:19837400-19844800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr17:19837600-19844800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr17:19837800-19846400	Strong transcription	Primary T cells from cord blood	blood
42	chr17:19838000-19843600	Strong transcription	Colon Smooth Muscle	Colon
43	chr17:19838000-19844600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:19838600-19851600	Weak transcription	Psoas Muscle	Psoas
45	chr17:19839000-19843200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr17:19839800-19844200	Weak transcription	Fetal Heart	heart
47	chr17:19839800-19844200	Genic enhancers	A549	lung
48	chr17:19839800-19846000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr17:19839800-19849800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr17:19840000-19844000	Weak transcription	NH-A	brain

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