Variant report

Variant	rs4647513
Chromosome Location	chr9:97888708-97888709
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97809551..97811519-chr9:97887911..97889998,2	MCF-7	breast:
2	chr9:97315606..97318346-chr9:97888439..97891401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231806	Chromatin interaction
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs173339	0.89[YRI][hapmap]
rs242448	0.91[YRI][hapmap]
rs2765817	0.91[YRI][hapmap]
rs356660	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs356661	0.91[YRI][hapmap]
rs356663	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs356671	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs356685	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs356686	0.91[YRI][hapmap]
rs4647379	1.00[MKK][hapmap];0.80[YRI][hapmap]
rs4647551	0.82[ASW][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap]
rs475413	1.00[MKK][hapmap];0.83[YRI][hapmap]
rs648615	0.83[AFR][1000 genomes]
rs651009	1.00[MKK][hapmap];0.91[YRI][hapmap]
rs7033294	1.00[YRI][hapmap]
rs7049188	0.90[YRI][hapmap]
rs7866396	0.82[YRI][hapmap]

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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4647513	MIR23B	cis	lymphoblastoid	seeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97844000-97898400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr9:97861200-97889800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:97866000-97889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:97866200-97889600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:97868600-97889400	Weak transcription	Fetal Heart	heart
6	chr9:97869800-97889800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr9:97870400-97889600	Weak transcription	Fetal Thymus	thymus
8	chr9:97870600-97889800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:97874600-97889400	Weak transcription	Colonic Mucosa	Colon
10	chr9:97875000-97889800	Weak transcription	Hela-S3	cervix
11	chr9:97875200-97889600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:97875200-97889600	Weak transcription	HSMMtube	muscle
13	chr9:97875400-97889400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:97875400-97889400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:97875400-97895400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:97875400-97900400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:97875600-97889400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:97875600-97889600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:97875600-97889600	Weak transcription	Adipose Nuclei	Adipose
20	chr9:97875600-97900000	Weak transcription	Spleen	Spleen
21	chr9:97875600-97906000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:97875800-97888800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:97875800-97892200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:97876800-97889600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:97877000-97889600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:97877000-97889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:97877000-97892000	Weak transcription	Gastric	stomach
28	chr9:97877000-97896400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:97879000-97889200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:97879200-97888800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:97879200-97889400	Weak transcription	HSMM	muscle
32	chr9:97879200-97889600	Weak transcription	Right Atrium	heart
33	chr9:97879400-97889400	Weak transcription	Left Ventricle	heart
34	chr9:97879400-97889400	Weak transcription	Pancreas	Pancrea
35	chr9:97879600-97889200	Weak transcription	Brain Substantia Nigra	brain
36	chr9:97879600-97889400	Weak transcription	Brain Angular Gyrus	brain
37	chr9:97879600-97889600	Weak transcription	Ovary	ovary
38	chr9:97879600-97890600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:97879800-97889200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:97879800-97889600	Weak transcription	GM12878-XiMat	blood
41	chr9:97880200-97889600	Strong transcription	Liver	Liver
42	chr9:97881400-97889000	Weak transcription	Aorta	Aorta
43	chr9:97881400-97889600	Weak transcription	Fetal Brain Male	brain
44	chr9:97881400-97889600	Weak transcription	Fetal Brain Female	brain
45	chr9:97883800-97889400	Weak transcription	Colon Smooth Muscle	Colon
46	chr9:97884000-97889200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:97884000-97889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:97884000-97889400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr9:97884000-97889600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:97884000-97889600	Weak transcription	Fetal Lung	lung

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