Variant report

Variant	rs73643120
Chromosome Location	chr9:26975424-26975425
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:26975262-26976234	A549	lung:	n/a	n/a
2	REST	chr9:26975209-26976501	H1-neurons	neurons:	n/a	n/a
3	ATF2	chr9:26975411-26976863	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr9:26974944-26976904	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr9:26975299-26976032	K562	blood:	n/a	n/a
6	POLR2A	chr9:26974800-26976880	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr9:26975402-26976110	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr9:26974571-26976914	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr9:26975163-26976501	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF7	chr9:26974953-26976824	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:26974808-26976775	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr9:26974646-26976893	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr9:26975064-26976910	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr9:26974882-26976431	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr9:26974918-26975435	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:26946590..26949297-chr9:26972934..26975757,2	MCF-7	breast:
2	chr9:26744400..26745007-chr9:26975049..26975918,2	MCF-7	breast:
3	chr9:26945881..26949167-chr9:26974909..26976838,3	MCF-7	breast:
4	chr9:26863059..26863690-chr9:26975381..26976202,2	MCF-7	breast:
5	chr9:26723206..26723920-chr9:26975181..26975897,2	K562	blood:
6	chr9:26892948..26894662-chr9:26974221..26975842,2	K562	blood:

No data

Variant related genes	Relation type
IFT74	TF binding region
ENSG00000096872	Chromatin interaction
ENSG00000137055	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10283643	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1048949	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967595	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967624	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967634	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967638	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967639	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967640	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967644	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11999015	0.94[ASN][1000 genomes]
rs12001845	0.94[ASN][1000 genomes]
rs12002068	0.94[ASN][1000 genomes]
rs12003612	0.94[ASN][1000 genomes]
rs12338678	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12338827	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12339063	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345094	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12349359	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16910832	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16910834	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17694121	0.94[ASN][1000 genomes]
rs17694140	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694300	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694306	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694549	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17755887	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17755911	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17756221	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28525632	0.86[EUR][1000 genomes]
rs41271173	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41272237	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41272239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55902149	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59478807	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59757728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61331313	0.94[ASN][1000 genomes]
rs7037860	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433963	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73643117	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73643128	1.00[AMR][1000 genomes];0.86[EUR][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	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26957000-26980800	Weak transcription	Lung	lung
2	chr9:26957000-26983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:26957000-26984400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:26957000-27024000	Weak transcription	Esophagus	oesophagus
5	chr9:26957200-26976000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:26957200-26980800	Weak transcription	Fetal Intestine Large	intestine
7	chr9:26957200-26980800	Weak transcription	Fetal Stomach	stomach
8	chr9:26957200-26982600	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:26957200-26982600	Weak transcription	Left Ventricle	heart
10	chr9:26957200-26983200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:26957200-26983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:26957200-26984400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:26957200-26984400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr9:26957200-26984600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:26957200-26984800	Weak transcription	Primary B cells from cord blood	blood
16	chr9:26957200-26984800	Weak transcription	Fetal Thymus	thymus
17	chr9:26957200-27026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:26957200-27040000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr9:26957400-26978200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr9:26957400-26980800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:26957400-26982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:26957400-26983200	Weak transcription	Brain Anterior Caudate	brain
23	chr9:26957400-26983400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:26957400-26984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr9:26957600-26979400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:26957600-26982800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:26957600-26983200	Weak transcription	Fetal Kidney	kidney
28	chr9:26957600-26983400	Weak transcription	Brain Angular Gyrus	brain
29	chr9:26957600-26984800	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:26957800-26975600	Weak transcription	Fetal Intestine Small	intestine
31	chr9:26957800-26976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:26957800-26984600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:26958600-26981000	Weak transcription	Ovary	ovary
34	chr9:26960000-26976200	Weak transcription	NHEK	skin
35	chr9:26960000-26976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:26962200-26981600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr9:26962200-26986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:26962400-26984600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:26962400-26985000	Weak transcription	Brain Substantia Nigra	brain
40	chr9:26962600-26977400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:26962600-26977600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:26962600-26984600	Weak transcription	HSMM	muscle
43	chr9:26963800-26983200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:26966400-26984600	Weak transcription	Fetal Brain Male	brain
45	chr9:26969000-26991200	Weak transcription	NHDF-Ad	bronchial
46	chr9:26969600-26975800	Weak transcription	Hela-S3	cervix
47	chr9:26969600-26986600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:26970200-26975600	Weak transcription	Adipose Nuclei	Adipose
49	chr9:26970400-26982600	Weak transcription	Fetal Lung	lung
50	chr9:26970400-26983200	Weak transcription	Primary T cells from cord blood	blood

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