Variant report

Variant	rs67093290
Chromosome Location	chr2:10129395-10129396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10128576..10131028-chr2:10174515..10176191,2	MCF-7	breast:
2	chr2:10128808..10130812-chr2:10181556..10183702,2	K562	blood:
3	chr2:10128526..10131575-chr2:10133695..10136149,3	K562	blood:

Variant related genes	Relation type
ENSG00000172059	Chromatin interaction
ENSG00000134317	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	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690988	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883961	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886114	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886486	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887890	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889061	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902236	0.94[ASN][1000 genomes]
rs11902932	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401891	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867262	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867266	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17455130	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897164	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003911	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012320	0.87[AMR][1000 genomes];0.99[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	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791764	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828262	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41264205	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482455	0.82[ASN][1000 genomes]
rs4635506	0.82[ASN][1000 genomes]
rs59345896	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66920316	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711126	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716765	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721359	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67223835	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725087	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735737	0.82[ASN][1000 genomes]
rs6739827	0.94[ASN][1000 genomes]
rs6749296	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750565	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750946	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784430	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72784434	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784441	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784463	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730922	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162262	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162264	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73913937	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73913938	0.97[AMR][1000 genomes];1.00[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:57 , 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	chr2:10120400-10131800	Weak transcription	Dnd41	blood
10	chr2:10124000-10136400	Weak transcription	Hela-S3	cervix
11	chr2:10124400-10139200	Weak transcription	Gastric	stomach
12	chr2:10124800-10130600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:10124800-10131800	Weak transcription	Fetal Kidney	kidney
14	chr2:10124800-10143200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
16	chr2:10125000-10130800	Weak transcription	Left Ventricle	heart
17	chr2:10125000-10132600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:10125000-10134200	Weak transcription	Right Ventricle	heart
19	chr2:10125000-10140600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:10125000-10147600	Weak transcription	K562	blood
21	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
22	chr2:10125200-10130800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:10125200-10134000	Weak transcription	Stomach Mucosa	stomach
24	chr2:10125200-10139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:10125200-10139200	Weak transcription	Pancreas	Pancrea
26	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:10125400-10131400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:10125600-10131800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:10125800-10130800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:10125800-10130800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:10125800-10130800	Weak transcription	Fetal Intestine Large	intestine
32	chr2:10125800-10132200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:10126000-10130600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:10126000-10130800	Weak transcription	HSMM	muscle
35	chr2:10126000-10130800	Weak transcription	Osteobl	bone
36	chr2:10126000-10132400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:10126000-10144000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:10126200-10130800	Weak transcription	NHDF-Ad	bronchial
39	chr2:10126200-10132000	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:10126200-10133400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:10126200-10139200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:10126400-10130800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:10126400-10130800	Weak transcription	Adipose Nuclei	Adipose
44	chr2:10126400-10133400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:10126400-10133600	Weak transcription	Small Intestine	intestine
46	chr2:10126400-10141200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:10127800-10130800	Weak transcription	Lung	lung
48	chr2:10128000-10131000	Weak transcription	Fetal Intestine Small	intestine
49	chr2:10128000-10142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:10128000-10146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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