Variant report

Variant	rs730922
Chromosome Location	chr2:10125002-10125003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10091162..10093272-chr2:10122977..10125313,2	MCF-7	breast:
2	chr2:10124031..10125985-chr2:10182385..10183963,2	MCF-7	breast:
3	chr2:10118579..10121922-chr2:10122054..10125273,3	K562	blood:
4	chr2:10123969..10126357-chr2:10126821..10128999,2	MCF-7	breast:
5	chr2:10124029..10125034-chr2:10188472..10189404,3	MCF-7	breast:
6	chr2:10124646..10126167-chr2:10126263..10128790,2	K562	blood:
7	chr2:10111585..10113356-chr2:10123202..10126710,3	K562	blood:
8	chr2:10119057..10121922-chr2:10123491..10126489,3	K562	blood:
9	chr2:10124756..10127578-chr2:10133279..10134788,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11674576	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690988	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883961	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11886114	1.00[ASN][1000 genomes]
rs11886486	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887890	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889061	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11902236	0.94[ASN][1000 genomes]
rs11902932	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401891	0.92[ASN][1000 genomes]
rs16867262	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16867266	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17455130	1.00[ASN][1000 genomes]
rs1897164	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2003911	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012320	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2116014	0.94[ASN][1000 genomes]
rs2116015	0.94[ASN][1000 genomes]
rs2163336	0.94[ASN][1000 genomes]
rs3791761	0.91[ASN][1000 genomes]
rs3791763	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3791764	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3828262	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs41264205	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482455	0.82[ASN][1000 genomes]
rs4635506	0.82[ASN][1000 genomes]
rs59345896	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66920316	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67093290	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711126	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716765	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721359	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67223835	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6725087	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735737	0.82[ASN][1000 genomes]
rs6739827	0.94[ASN][1000 genomes]
rs6749296	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750565	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750946	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784430	0.93[ASN][1000 genomes]
rs72784434	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72784441	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784463	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162262	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162264	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73913937	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73913938	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891499	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:10113400-10130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:10116800-10126200	Weak transcription	Esophagus	oesophagus
10	chr2:10119400-10126000	Enhancers	Osteobl	bone
11	chr2:10119600-10125800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:10119600-10126400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:10120400-10131800	Weak transcription	Dnd41	blood
14	chr2:10120600-10125800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:10121200-10128000	Weak transcription	Fetal Brain Male	brain
16	chr2:10121600-10127000	Weak transcription	HepG2	liver
17	chr2:10122200-10126000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:10122600-10125200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:10122600-10126200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:10122600-10126400	Enhancers	Adipose Nuclei	Adipose
21	chr2:10122800-10126000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:10123000-10126400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:10123200-10125200	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:10123400-10126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:10123400-10126200	Enhancers	NHDF-Ad	bronchial
26	chr2:10123400-10126400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:10124000-10125400	Enhancers	Placenta	Placenta
28	chr2:10124000-10136400	Weak transcription	Hela-S3	cervix
29	chr2:10124200-10125200	Enhancers	Brain Hippocampus Middle	brain
30	chr2:10124200-10125200	Enhancers	Lung	lung
31	chr2:10124200-10125200	Enhancers	Pancreas	Pancrea
32	chr2:10124200-10125600	Enhancers	NHEK	skin
33	chr2:10124200-10125800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:10124200-10126000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:10124200-10126200	Enhancers	Colon Smooth Muscle	Colon
36	chr2:10124400-10125200	Enhancers	Stomach Mucosa	stomach
37	chr2:10124400-10125400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:10124400-10125800	Enhancers	Liver	Liver
39	chr2:10124400-10125800	Enhancers	Fetal Intestine Large	intestine
40	chr2:10124400-10125800	Enhancers	NH-A	brain
41	chr2:10124400-10126400	Enhancers	HSMMtube	muscle
42	chr2:10124400-10139200	Weak transcription	Gastric	stomach
43	chr2:10124600-10125200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:10124600-10125200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:10124600-10125200	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr2:10124600-10125200	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr2:10124600-10125400	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:10124600-10126000	Enhancers	HSMM	muscle
49	chr2:10124600-10128800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:10124800-10126400	Enhancers	Rectal Smooth Muscle	rectum

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