Variant report

Variant	rs17516460
Chromosome Location	chr9:94651792-94651793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:94651462-94651813	K562	blood:	n/a	n/a
2	RAD21	chr9:94651397-94651805	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr9:94651463-94651797	HepG2	liver:	n/a	n/a
4	CTCF	chr9:94651407-94651816	K562	blood:	n/a	n/a
5	CTCF	chr9:94651397-94651862	K562	blood:	n/a	n/a
6	CTCF	chr9:94651417-94651827	K562	blood:	n/a	n/a
7	CTCF	chr9:94651355-94651808	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94650894..94652826-chr9:94665751..94669153,3	K562	blood:
2	chr9:94537420..94538338-chr9:94651419..94651987,2	MCF-7	breast:
3	chr9:94641817..94643317-chr9:94650910..94653000,2	K562	blood:

No data

Variant related genes	Relation type
ROR2	TF binding region
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11792371	1.00[AFR][1000 genomes]
rs11794240	1.00[AFR][1000 genomes]
rs11795340	0.91[AMR][1000 genomes]
rs1569141	1.00[AFR][1000 genomes]
rs16907784	1.00[AFR][1000 genomes]
rs16907863	1.00[AFR][1000 genomes]
rs56119295	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59845812	0.83[AMR][1000 genomes]
rs59903414	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7032536	1.00[AFR][1000 genomes]
rs7853430	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94646000-94652600	Enhancers	Ovary	ovary
2	chr9:94646000-94654800	Enhancers	Fetal Lung	lung
3	chr9:94646600-94654600	Enhancers	Fetal Stomach	stomach
4	chr9:94646600-94658200	Weak transcription	Fetal Heart	heart
5	chr9:94647200-94652600	Enhancers	Fetal Intestine Large	intestine
6	chr9:94647800-94652200	Weak transcription	Brain Substantia Nigra	brain
7	chr9:94648800-94653200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:94648800-94658400	Weak transcription	Pancreas	Pancrea
9	chr9:94648800-94661000	Weak transcription	Spleen	Spleen
10	chr9:94649400-94663200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:94649800-94658400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:94650000-94653400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:94650000-94662400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr9:94650400-94653600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr9:94650600-94652200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr9:94650600-94654600	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:94650800-94651800	Enhancers	Esophagus	oesophagus
18	chr9:94650800-94652000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:94650800-94652000	Enhancers	Colonic Mucosa	Colon
20	chr9:94650800-94652000	Enhancers	Lung	lung
21	chr9:94650800-94652000	Enhancers	Right Atrium	heart
22	chr9:94650800-94652600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr9:94651000-94651800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:94651000-94652200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:94651000-94652400	Bivalent Enhancer	Placenta	Placenta
26	chr9:94651000-94652800	Weak transcription	Fetal Kidney	kidney
27	chr9:94651200-94653200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:94651200-94659200	Enhancers	Colon Smooth Muscle	Colon
29	chr9:94651200-94665000	Weak transcription	NHLF	lung
30	chr9:94651400-94651800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr9:94651400-94651800	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr9:94651400-94652400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr9:94651600-94652600	Genic enhancers	Fetal Intestine Small	intestine
34	chr9:94651600-94653200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:94651600-94653800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:94651600-94656400	Weak transcription	K562	blood
37	chr9:94651600-94660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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