Variant report

Variant	rs73646758
Chromosome Location	chr9:71321323-71321324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71319577..71321555-chr9:71393458..71395334,2	MCF-7	breast:
2	chr9:71318506..71320929-chr9:71321155..71324459,4	K562	blood:
3	chr9:71318947..71321633-chr9:71353997..71355633,2	MCF-7	breast:
4	chr9:71318773..71321660-chr9:71357020..71360216,3	K562	blood:

Variant related genes	Relation type
ENSG00000107242	Chromatin interaction
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10869147	1.00[EUR][1000 genomes]
rs1107109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12001744	1.00[EUR][1000 genomes]
rs12002970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12003362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12004348	1.00[EUR][1000 genomes]
rs12340677	1.00[EUR][1000 genomes]
rs17052441	1.00[EUR][1000 genomes]
rs17057813	1.00[EUR][1000 genomes]
rs17058128	1.00[EUR][1000 genomes]
rs2065388	1.00[EUR][1000 genomes]
rs55931741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56173513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56822677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56885985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57085507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57105289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57442310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58120494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58282494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58870473	1.00[EUR][1000 genomes]
rs59646983	1.00[EUR][1000 genomes]
rs60175722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60300145	1.00[EUR][1000 genomes]
rs60809779	1.00[EUR][1000 genomes]
rs6560256	1.00[EUR][1000 genomes]
rs7021335	1.00[EUR][1000 genomes]
rs7048378	1.00[EUR][1000 genomes]
rs73449521	1.00[AMR][1000 genomes]
rs73646709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646711	1.00[EUR][1000 genomes]
rs73646712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646756	1.00[EUR][1000 genomes]
rs73646775	1.00[EUR][1000 genomes]
rs7866754	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2752385	chr9:71304465-71332240	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71319000-71321800	Active TSS	Fetal Heart	heart
2	chr9:71319000-71322400	Active TSS	Fetal Intestine Large	intestine
3	chr9:71319200-71321600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr9:71319200-71321800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr9:71319200-71322000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:71319200-71323400	Active TSS	Rectal Smooth Muscle	rectum
7	chr9:71319400-71321600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:71319400-71321600	Active TSS	Colonic Mucosa	Colon
9	chr9:71319400-71322000	Active TSS	Aorta	Aorta
10	chr9:71319400-71322400	Active TSS	Stomach Mucosa	stomach
11	chr9:71319600-71321400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr9:71319600-71321400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:71319600-71321400	Active TSS	K562	blood
14	chr9:71319600-71321600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:71319600-71321600	Active TSS	Psoas Muscle	Psoas
16	chr9:71319600-71321800	Active TSS	Brain Angular Gyrus	brain
17	chr9:71319600-71322600	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr9:71319600-71323200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:71319800-71321400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:71319800-71321400	Active TSS	Brain Cingulate Gyrus	brain
21	chr9:71319800-71321400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr9:71319800-71321400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr9:71319800-71321600	Active TSS	Duodenum Mucosa	Duodenum
24	chr9:71319800-71321600	Active TSS	GM12878-XiMat	blood
25	chr9:71319800-71321800	Active TSS	Gastric	stomach
26	chr9:71319800-71322000	Active TSS	Pancreas	Pancrea
27	chr9:71319800-71322000	Active TSS	Small Intestine	intestine
28	chr9:71319800-71322400	Active TSS	Right Atrium	heart
29	chr9:71319800-71322400	Active TSS	Right Ventricle	heart
30	chr9:71319800-71322600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr9:71320000-71321400	Active TSS	Primary B cells from peripheral blood	blood
32	chr9:71320000-71322200	Active TSS	Left Ventricle	heart
33	chr9:71320400-71321400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr9:71320600-71321400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr9:71320600-71321400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr9:71320600-71321400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr9:71320600-71321400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:71320600-71321400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
39	chr9:71320600-71321400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr9:71320600-71321400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr9:71320600-71321400	Flanking Active TSS	Placenta	Placenta
42	chr9:71320600-71321600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
43	chr9:71320600-71321600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr9:71320600-71321600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr9:71320600-71321800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:71320600-71321800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr9:71320800-71321400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:71320800-71321400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr9:71320800-71321400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:71320800-71321400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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