Variant report

Variant	rs34593991
Chromosome Location	chr9:110077723-110077724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110045249..110048106-chr9:110077151..110079767,3	MCF-7	breast:
2	chr9:110044399..110049612-chr9:110071012..110080286,12	K562	blood:

Variant related genes	Relation type
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573607	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573662	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573665	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573703	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573709	1.00[ASN][1000 genomes]
rs11573711	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11573721	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12379885	1.00[ASN][1000 genomes]
rs12379895	1.00[ASN][1000 genomes]
rs13287251	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805331	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34731486	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34745099	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218924	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35494237	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35626978	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35827173	1.00[ASN][1000 genomes]
rs35865856	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35967129	1.00[ASN][1000 genomes]
rs36016101	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36089467	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161943	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66495692	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66539130	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67630898	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71495992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716004	1.00[ASN][1000 genomes]

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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv519266	chr9:110049477-110085255	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110051600-110079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110057200-110079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:110058600-110098600	Weak transcription	Small Intestine	intestine
4	chr9:110061400-110094600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:110062000-110078000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:110062400-110077800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:110062400-110078600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:110062600-110078800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr9:110063000-110078200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr9:110063000-110079200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:110063200-110077800	Strong transcription	Placenta	Placenta
12	chr9:110063400-110077800	Strong transcription	Fetal Lung	lung
13	chr9:110063600-110078600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:110063800-110079200	Strong transcription	Osteobl	bone
15	chr9:110063800-110079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:110064000-110085000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:110065200-110089200	Strong transcription	Fetal Thymus	thymus
18	chr9:110065400-110077800	Strong transcription	Primary B cells from cord blood	blood
19	chr9:110065600-110098600	Strong transcription	Dnd41	blood
20	chr9:110067000-110077800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr9:110070200-110104400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr9:110070400-110085000	Weak transcription	Colonic Mucosa	Colon
23	chr9:110070400-110099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:110070600-110079400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr9:110071400-110084000	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:110071400-110103000	Weak transcription	Stomach Mucosa	stomach
27	chr9:110071800-110079800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:110071800-110084400	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:110072600-110077800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:110072800-110077800	Strong transcription	Liver	Liver
31	chr9:110072800-110078400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:110073800-110080000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:110074000-110077800	Strong transcription	Fetal Kidney	kidney
34	chr9:110074000-110078400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:110074200-110082600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:110074200-110083000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr9:110074200-110083200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:110074200-110088200	Strong transcription	Fetal Intestine Large	intestine
39	chr9:110074600-110077800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:110075000-110077800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr9:110075000-110077800	Strong transcription	NHDF-Ad	bronchial
42	chr9:110075000-110079000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:110075000-110079200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:110075000-110079200	Strong transcription	HSMM	muscle
45	chr9:110075000-110079200	Weak transcription	HSMMtube	muscle
46	chr9:110075000-110080200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:110075000-110084800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:110075000-110088000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:110075200-110077800	Strong transcription	Adipose Nuclei	Adipose
50	chr9:110075200-110078000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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