Variant report

Variant	rs73519172
Chromosome Location	chr9:94663359-94663360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94656937..94658928-chr9:94660784..94663442,2	MCF-7	breast:
2	chr9:94658826..94661180-chr9:94661410..94663593,2	K562	blood:
3	chr9:94653069..94655970-chr9:94661069..94663824,3	K562	blood:
4	chr9:94661900..94664292-chr9:94705248..94709269,4	K562	blood:
5	chr9:94658208..94667163-chr9:94705322..94714120,17	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2049704	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2049705	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3858082	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6479381	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6479382	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7032998	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7046846	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7048052	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73519162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519164	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519181	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857164	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7857924	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7866188	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7872177	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7873326	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7875069	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7875147	0.96[EUR][1000 genomes];0.91[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	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94651200-94665000	Weak transcription	NHLF	lung
2	chr9:94658000-94663600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:94658000-94667400	Enhancers	Fetal Lung	lung
4	chr9:94658200-94666200	Enhancers	Fetal Kidney	kidney
5	chr9:94658400-94664400	Enhancers	Fetal Intestine Large	intestine
6	chr9:94658400-94664600	Enhancers	Fetal Intestine Small	intestine
7	chr9:94658400-94665800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr9:94658800-94663400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:94659200-94663400	Enhancers	Fetal Muscle Leg	muscle
10	chr9:94659200-94665400	Enhancers	Ovary	ovary
11	chr9:94659600-94665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:94659600-94668400	Enhancers	Colon Smooth Muscle	Colon
13	chr9:94659800-94663600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:94660200-94663400	Enhancers	Placenta	Placenta
15	chr9:94660200-94663800	Enhancers	Duodenum Mucosa	Duodenum
16	chr9:94660200-94666200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:94660400-94663400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:94661200-94666600	Enhancers	Fetal Stomach	stomach
19	chr9:94661600-94665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:94662000-94664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:94662200-94663400	Enhancers	Fetal Brain Male	brain
22	chr9:94662200-94665200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:94662200-94669400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr9:94662400-94663400	Enhancers	Adipose Nuclei	Adipose
25	chr9:94662400-94664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:94662400-94664200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr9:94662400-94664800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:94662400-94665400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:94662400-94665800	Enhancers	Fetal Heart	heart
30	chr9:94662600-94663800	Flanking Active TSS	K562	blood
31	chr9:94662600-94664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:94662800-94663400	Enhancers	Fetal Brain Female	brain
33	chr9:94662800-94663800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:94662800-94664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:94662800-94664600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr9:94662800-94666600	Weak transcription	Colonic Mucosa	Colon
37	chr9:94662800-94668000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:94662800-94668400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:94662800-94668400	Weak transcription	Spleen	Spleen
40	chr9:94663000-94663400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr9:94663000-94663400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr9:94663000-94663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:94663000-94664000	Weak transcription	Fetal Thymus	thymus
44	chr9:94663000-94664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:94663000-94664200	Weak transcription	Gastric	stomach
46	chr9:94663000-94664600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:94663000-94664600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:94663000-94664600	Weak transcription	Lung	lung
49	chr9:94663000-94664600	Enhancers	Stomach Smooth Muscle	stomach
50	chr9:94663000-94665600	Enhancers	Rectal Smooth Muscle	rectum

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