Variant report

Variant	rs73530456
Chromosome Location	chr9:97894574-97894575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr9:97891395-97896324	SK-N-SH	brain:	n/a	chr9:97893273-97893287 chr9:97892295-97892305 chr9:97892880-97892890 chr9:97893965-97893974 chr9:97892511-97892525 chr9:97895405-97895419 chr9:97894136-97894150 chr9:97893991-97894005 chr9:97892431-97892441
2	MXI1	chr9:97892853-97897300	SK-N-SH	brain:	n/a	chr9:97896347-97896356 chr9:97897064-97897073
3	RAD21	chr9:97893309-97896265	SK-N-SH	brain:	n/a	chr9:97894351-97894361 chr9:97894428-97894442 chr9:97893806-97893825 chr9:97893618-97893630 chr9:97893620-97893630

No.	Distal block	Cell Line	Cell type
1	chr9:97678927..97686235-chr9:97889117..97896057,11	MCF-7	breast:
2	chr9:97681630..97683454-chr9:97893075..97894960,2	MCF-7	breast:
3	chr9:97544700..97548107-chr9:97891004..97896251,5	MCF-7	breast:
4	chr9:97393391..97395196-chr9:97892426..97894999,2	MCF-7	breast:
5	chr9:97459238..97460937-chr9:97893388..97895358,2	MCF-7	breast:
6	chr9:97892364..97896798-chr9:97897558..97901820,5	K562	blood:
7	chr9:97441827..97444404-chr9:97892662..97894704,2	MCF-7	breast:

Variant related genes	Relation type
FANCC	TF binding region
ENSG00000148120	Chromatin interaction
ENSG00000158169	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12000012	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16912035	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73534897	0.82[AMR][1000 genomes]

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

No data

Chromatin state (count:74 , 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	chr9:97875400-97895400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:97875400-97900400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:97875600-97900000	Weak transcription	Spleen	Spleen
5	chr9:97875600-97906000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:97877000-97896400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:97887400-97916400	Weak transcription	Thymus	Thymus
8	chr9:97888000-97900000	Weak transcription	Primary T cells from cord blood	blood
9	chr9:97890000-97894600	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:97890000-97894600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:97890000-97895200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:97890000-97898600	Weak transcription	Left Ventricle	heart
13	chr9:97890000-97898600	Weak transcription	Right Atrium	heart
14	chr9:97890000-97900000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:97890000-97906600	Weak transcription	Right Ventricle	heart
16	chr9:97890000-97919600	Weak transcription	Hela-S3	cervix
17	chr9:97890000-97928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:97890200-97895200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:97890200-97898400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:97890200-97900400	Weak transcription	Esophagus	oesophagus
21	chr9:97890400-97895800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:97890400-97896200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:97890400-97897000	Weak transcription	Colonic Mucosa	Colon
24	chr9:97890400-97902800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:97890600-97900000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr9:97890600-97900000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:97891400-97896000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:97891600-97896000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:97891800-97898200	Enhancers	Liver	Liver
30	chr9:97892000-97894600	Enhancers	Fetal Lung	lung
31	chr9:97892200-97896800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:97892400-97896200	Weak transcription	Small Intestine	intestine
33	chr9:97892600-97896400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:97892600-97900400	Weak transcription	Brain Germinal Matrix	brain
35	chr9:97892800-97896400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:97893200-97894600	Enhancers	Fetal Stomach	stomach
37	chr9:97893200-97894800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:97893200-97901600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr9:97893400-97894600	Enhancers	Stomach Smooth Muscle	stomach
40	chr9:97893400-97895600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr9:97893400-97896600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:97893400-97898200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:97893600-97895000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr9:97893600-97895400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:97893600-97895800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr9:97893600-97896200	Enhancers	Fetal Kidney	kidney
47	chr9:97893800-97895400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:97893800-97895400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr9:97893800-97895400	Weak transcription	Fetal Intestine Small	intestine
50	chr9:97893800-97895800	Weak transcription	Fetal Intestine Large	intestine

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