Variant report

Variant	rs73534113
Chromosome Location	chr9:97559033-97559034
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:97559020-97559170	HAc	cerebellar:	n/a	n/a
2	CTCF	chr9:97559020-97559170	AG10803	skin:	n/a	n/a
3	CTCF	chr9:97559020-97559170	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr9:97558980-97559130	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr9:97558880-97559130	HPF	lung:	n/a	n/a
6	CTCF	chr9:97559000-97559150	HCM	heart:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97558614..97561241-chr9:97564364..97566468,2	K562	blood:
2	chr9:97557152..97559081-chr9:97564321..97566954,3	MCF-7	breast:
3	chr9:97556450..97557959-chr9:97558838..97560681,2	MCF-7	breast:
4	chr9:97554587..97559344-chr9:97560802..97565429,6	MCF-7	breast:
5	chr9:97557777..97559684-chr9:97600038..97601628,2	MCF-7	breast:
6	chr9:97558473..97564935-chr9:97678907..97687123,11	MCF-7	breast:

No data

Variant related genes	Relation type
C9orf3	TF binding region
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12553916	0.82[AFR][1000 genomes]
rs1382411	0.86[AFR][1000 genomes]
rs1382412	0.86[AFR][1000 genomes]
rs191654	0.82[AFR][1000 genomes]
rs2675168	0.82[AFR][1000 genomes]
rs356149	0.82[AFR][1000 genomes]
rs365465	0.82[AFR][1000 genomes]
rs3887267	0.82[AFR][1000 genomes]
rs397783	0.82[AFR][1000 genomes]
rs397806	0.82[AFR][1000 genomes]
rs41316526	0.86[AFR][1000 genomes]
rs422502	0.82[AFR][1000 genomes]
rs448899	0.82[AFR][1000 genomes]
rs58281499	0.82[AFR][1000 genomes]
rs58676982	1.00[AMR][1000 genomes]
rs58889952	1.00[AMR][1000 genomes]
rs59596055	1.00[AMR][1000 genomes]
rs60120	0.82[AFR][1000 genomes]
rs60553517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60856972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61086657	0.82[AFR][1000 genomes]
rs66642068	0.86[AFR][1000 genomes]
rs66710673	0.82[AFR][1000 genomes]
rs66863985	0.86[AFR][1000 genomes]
rs67208365	0.82[AFR][1000 genomes]
rs68091393	0.82[AFR][1000 genomes]
rs7037239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521196	1.00[AMR][1000 genomes]
rs73521201	1.00[AMR][1000 genomes]
rs73523253	1.00[AMR][1000 genomes]
rs73523261	1.00[AMR][1000 genomes]
rs73523275	1.00[AMR][1000 genomes]
rs73523277	1.00[AMR][1000 genomes]
rs73523285	1.00[AMR][1000 genomes]
rs73523301	1.00[AMR][1000 genomes]
rs73524810	1.00[AMR][1000 genomes]
rs73530354	1.00[AMR][1000 genomes]
rs73532323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532355	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73534109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73534154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73534159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536067	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537487	1.00[AMR][1000 genomes]
rs73538140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73538152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73538177	0.86[AFR][1000 genomes]
rs73539427	1.00[AMR][1000 genomes]
rs73539428	1.00[AMR][1000 genomes]
rs73540059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540077	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540089	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7858775	1.00[AMR][1000 genomes]
rs9409805	0.82[AFR][1000 genomes]
rs9696490	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97523400-97563800	Weak transcription	Fetal Kidney	kidney
2	chr9:97530200-97563000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:97531600-97563000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:97531600-97563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:97545400-97567200	Weak transcription	Small Intestine	intestine
6	chr9:97545800-97560600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:97545800-97562200	Weak transcription	Ovary	ovary
8	chr9:97545800-97562200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:97545800-97563000	Weak transcription	Adipose Nuclei	Adipose
10	chr9:97545800-97563000	Weak transcription	Gastric	stomach
11	chr9:97545800-97563000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:97545800-97563000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:97545800-97563200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:97545800-97567000	Weak transcription	Fetal Brain Female	brain
15	chr9:97546000-97560400	Weak transcription	Pancreas	Pancrea
16	chr9:97546000-97561400	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:97546000-97562400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:97548000-97563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:97548200-97562200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:97548200-97563600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:97548200-97564800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:97548400-97563200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr9:97548600-97570400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:97549200-97567800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:97549600-97562600	Weak transcription	Fetal Thymus	thymus
26	chr9:97549600-97562800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr9:97549800-97561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:97550200-97571200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr9:97551400-97562200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:97551400-97563000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:97553400-97563000	Weak transcription	Dnd41	blood
32	chr9:97555000-97563000	Weak transcription	Left Ventricle	heart
33	chr9:97555000-97563200	Weak transcription	Right Ventricle	heart
34	chr9:97555200-97560400	Weak transcription	Stomach Mucosa	stomach
35	chr9:97555200-97562200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr9:97555200-97562200	Weak transcription	HSMMtube	muscle
37	chr9:97555200-97562600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:97555200-97563000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:97555200-97563000	Weak transcription	Lung	lung
40	chr9:97555200-97563000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr9:97555400-97561800	Weak transcription	NHEK	skin
42	chr9:97555400-97563000	Weak transcription	Spleen	Spleen
43	chr9:97555800-97563000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:97556400-97562600	Weak transcription	Brain Angular Gyrus	brain
45	chr9:97556400-97562600	Weak transcription	Brain Germinal Matrix	brain
46	chr9:97556600-97559400	Weak transcription	Fetal Intestine Small	intestine
47	chr9:97556600-97559800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:97556600-97560200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:97556600-97563000	Weak transcription	Fetal Stomach	stomach
50	chr9:97556600-97563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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