Variant report

Variant	rs73426359
Chromosome Location	chr9:8486217-8486218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr9:8486156-8486458	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr9:8486193-8486366	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chr9:8486180-8486330	HEK293	kidney:	n/a	n/a
4	CTCF	chr9:8486140-8486290	HepG2	liver:	n/a	n/a
5	CTCF	chr9:8486140-8486290	GM12878	blood:	n/a	n/a
6	CTCF	chr9:8486200-8486350	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr9:8486198-8486333	LNCaP	prostate:	n/a	n/a
8	CTCF	chr9:8486166-8486372	Medullo	brain:	n/a	n/a
9	CTCF	chr9:8486100-8486250	NHDF-neo	bronchial:	n/a	n/a
10	RAD21	chr9:8486202-8486334	GM12878	blood:	n/a	n/a
11	RAD21	chr9:8486011-8486503	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr9:8485876-8486619	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr9:8486201-8486361	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr9:8486200-8486350	GM12873	blood:	n/a	n/a
15	CTCF	chr9:8486160-8486310	HAc	cerebellar:	n/a	n/a
16	CTCF	chr9:8486188-8486389	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr9:8486200-8486350	SK-N-SH_RA	brain:	n/a	n/a
18	RAD21	chr9:8485934-8486484	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr9:8486200-8486350	HMF	breast:	n/a	n/a
20	CTCF	chr9:8486160-8486310	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr9:8486038-8486545	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr9:8486160-8486310	NHLF	lung:	n/a	n/a
23	CTCF	chr9:8486160-8486310	HRE	kidney:	n/a	n/a
24	CTCF	chr9:8486182-8486390	Gliobla	brain:	n/a	n/a
25	CTCF	chr9:8486200-8486350	GM12868	blood:	n/a	n/a
26	CTCF	chr9:8486200-8486350	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr9:8486214-8486338	MCF-7	breast:	n/a	n/a
28	CTCF	chr9:8486200-8486357	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr9:8486160-8486310	RPTEC	kidney:	n/a	n/a
30	CTCF	chr9:8486180-8486330	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr9:8486065-8486466	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr9:8486058-8486467	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr9:8486183-8486388	NHEK	skin:	n/a	n/a
34	ZNF143	chr9:8486118-8486448	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr9:8486180-8486330	BE2_C	brain:	n/a	n/a
36	CTCF	chr9:8486160-8486310	AG09319	gingival:	n/a	n/a
37	CTCF	chr9:8486200-8486350	HRE	kidney:	n/a	n/a
38	CTCF	chr9:8486120-8486270	HL-60	blood:	n/a	n/a
39	CTCF	chr9:8486156-8486316	Lung_OC	lung:	n/a	n/a
40	MAX	chr9:8486200-8486498	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr9:8486200-8486350	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr9:8486044-8486457	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr9:8486160-8486310	Caco-2	colon:	n/a	n/a
44	CTCF	chr9:8486160-8486310	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr9:8486080-8486230	GM12871	blood:	n/a	n/a
46	MAX	chr9:8486194-8486534	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr9:8486011-8486495	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr9:8486180-8486330	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr9:8486140-8486290	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr9:8486200-8486350	NHEK	skin:	n/a	n/a

No data

Variant related genes	Relation type
PTPRD	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73424276	1.00[AFR][1000 genomes]
rs73424299	1.00[AFR][1000 genomes]
rs73426341	1.00[AFR][1000 genomes]
rs73426343	1.00[AFR][1000 genomes]
rs73426345	1.00[AFR][1000 genomes]
rs73426355	1.00[AFR][1000 genomes]
rs73426364	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv892226	chr9:8435525-8522326	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv892229	chr9:8485201-8520366	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
3	chr9:8442200-8522200	Weak transcription	Liver	Liver
4	chr9:8448000-8494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:8451400-8492000	Weak transcription	Psoas Muscle	Psoas
6	chr9:8464600-8494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:8473600-8491600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:8476800-8491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:8477000-8491600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:8478000-8487000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:8478200-8504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:8478400-8488800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:8479000-8491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:8479200-8504000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:8481200-8500800	Weak transcription	Fetal Intestine Small	intestine
16	chr9:8481600-8488200	Strong transcription	Fetal Lung	lung
17	chr9:8482200-8486400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:8482200-8487000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:8482400-8491800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:8483400-8486400	Strong transcription	Fetal Brain Male	brain
21	chr9:8483800-8486600	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr9:8483800-8487000	Strong transcription	Dnd41	blood
23	chr9:8483800-8524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:8484000-8486400	Strong transcription	Brain Angular Gyrus	brain
25	chr9:8484400-8492000	Weak transcription	Fetal Stomach	stomach
26	chr9:8484400-8492800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:8484400-8492800	Weak transcription	Brain Substantia Nigra	brain
28	chr9:8484800-8487000	Strong transcription	Brain Germinal Matrix	brain
29	chr9:8485000-8488800	Strong transcription	Fetal Brain Female	brain
30	chr9:8485200-8486400	Strong transcription	Brain Hippocampus Middle	brain
31	chr9:8485200-8486400	Strong transcription	Ovary	ovary
32	chr9:8485800-8486400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:8486000-8491600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:8486000-8491600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr9:8486000-8491800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:8486000-8493800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:8486000-8495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:8486000-8508400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:8486000-8519400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr9:8486000-8522200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:8486200-8491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:8486200-8492000	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:8486200-8492800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:8486200-8501800	Weak transcription	Fetal Heart	heart
45	chr9:8486200-8504600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:8486200-8509000	Weak transcription	Brain Anterior Caudate	brain
47	chr9:8486200-8517200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr9:8486200-8522800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:8486200-8523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:8486200-8531600	Weak transcription	Fetal Kidney	kidney

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