Variant report

Variant	rs12350621
Chromosome Location	chr9:92760245-92760246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:92753705..92756579-chr9:92759778..92762031,2	MCF-7	breast:
2	chr9:92758301..92760371-chr9:92760953..92763123,2	MCF-7	breast:
3	chr9:92739296..92741808-chr9:92758775..92761522,2	MCF-7	breast:
4	chr9:92216749..92221414-chr9:92756839..92763409,10	MCF-7	breast:
5	chr9:92748187..92750208-chr9:92758862..92760801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130222	Chromatin interaction
ENSG00000237626	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1036699	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993587	0.96[ASN][1000 genomes]
rs12339520	0.87[EUR][1000 genomes]
rs16906012	0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs16906019	0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs16906030	0.96[ASN][1000 genomes]
rs16906038	0.96[ASN][1000 genomes]
rs16906046	0.96[ASN][1000 genomes]
rs2099918	0.96[ASN][1000 genomes]
rs2119293	0.96[ASN][1000 genomes]
rs2890110	0.96[ASN][1000 genomes]
rs57835569	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58400952	0.95[ASN][1000 genomes]
rs60994320	0.96[ASN][1000 genomes]
rs61344087	0.96[ASN][1000 genomes]
rs652913	0.87[GIH][hapmap];0.87[TSI][hapmap]
rs72755008	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755011	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755015	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755016	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893561	chr9:92732368-92802101	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv482303	chr9:92752928-92890226	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12350621	ROR2	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92752400-92761600	Weak transcription	Aorta	Aorta
2	chr9:92753600-92765400	Enhancers	Fetal Intestine Large	intestine
3	chr9:92754000-92765400	Enhancers	Fetal Intestine Small	intestine
4	chr9:92755000-92762000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:92756000-92761800	Weak transcription	Brain Substantia Nigra	brain
6	chr9:92756200-92761800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr9:92756800-92760600	Weak transcription	NHDF-Ad	bronchial
8	chr9:92756800-92761600	Weak transcription	Psoas Muscle	Psoas
9	chr9:92757000-92761000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:92757000-92761200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:92757200-92761200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:92757200-92761800	Weak transcription	Hela-S3	cervix
13	chr9:92757200-92762400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr9:92757400-92760800	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:92757400-92761600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:92757400-92761600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:92757400-92761600	Weak transcription	A549	lung
18	chr9:92757400-92761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:92757400-92770000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:92757600-92761600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:92757600-92761800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:92757600-92762000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:92757600-92762200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:92757600-92764200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:92757600-92770000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:92757800-92760400	Enhancers	Esophagus	oesophagus
27	chr9:92757800-92760800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:92757800-92761000	Weak transcription	Primary B cells from cord blood	blood
29	chr9:92757800-92761000	Weak transcription	Pancreas	Pancrea
30	chr9:92757800-92762200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:92758000-92761200	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:92758000-92761600	Weak transcription	Left Ventricle	heart
33	chr9:92758000-92761600	Weak transcription	Right Ventricle	heart
34	chr9:92758000-92761800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:92758000-92762200	Weak transcription	Fetal Kidney	kidney
36	chr9:92758200-92760800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:92758200-92761000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:92758200-92761000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:92758200-92761000	Weak transcription	Fetal Lung	lung
40	chr9:92758200-92761600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:92758200-92761600	Weak transcription	Ovary	ovary
42	chr9:92758200-92761600	Weak transcription	Spleen	Spleen
43	chr9:92758200-92761800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:92758200-92762200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:92758400-92761200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:92758600-92761000	Weak transcription	Fetal Heart	heart
47	chr9:92758600-92761400	Weak transcription	Adipose Nuclei	Adipose
48	chr9:92758600-92761600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:92758600-92761800	Enhancers	Stomach Mucosa	stomach
50	chr9:92758800-92760800	Weak transcription	Colonic Mucosa	Colon

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