Variant report

Variant	rs11126384
Chromosome Location	chr2:73048648-73048649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73047022..73050173-chr2:73051630..73054545,3	MCF-7	breast:
2	chr2:73042920..73049725-chr2:73049916..73055202,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144036	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11126381	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11686536	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11693376	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11886503	0.87[ASN][1000 genomes]
rs12476137	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12479094	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12614041	0.87[ASN][1000 genomes]
rs12615163	0.90[ASN][1000 genomes]
rs12615875	0.87[ASN][1000 genomes]
rs12994646	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13008515	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1396107	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1508060	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1532970	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1876489	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1876490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2135982	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2420882	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35666345	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4852896	0.90[ASN][1000 genomes]
rs56181835	0.87[ASN][1000 genomes]
rs56711961	0.87[ASN][1000 genomes]
rs6546787	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6727086	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6744758	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6758539	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6758802	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7577528	0.82[ASN][1000 genomes]
rs7583914	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7586886	0.90[ASN][1000 genomes]
rs7600718	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73034000-73049600	Weak transcription	Right Atrium	heart
2	chr2:73034400-73051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:73036200-73050000	Weak transcription	Esophagus	oesophagus
4	chr2:73036200-73050600	Weak transcription	Left Ventricle	heart
5	chr2:73036400-73050800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:73036400-73051400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:73036600-73051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73037200-73051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:73038200-73051200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:73038400-73051200	Weak transcription	Fetal Stomach	stomach
11	chr2:73038400-73052000	Weak transcription	Aorta	Aorta
12	chr2:73041000-73049400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:73041400-73049800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:73041400-73051400	Weak transcription	HSMM	muscle
15	chr2:73041600-73049200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:73041600-73049400	Weak transcription	HMEC	breast
17	chr2:73041600-73049800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:73041600-73050800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:73041600-73051200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:73041600-73051200	Weak transcription	NHDF-Ad	bronchial
21	chr2:73041600-73051400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:73041600-73051600	Weak transcription	HSMMtube	muscle
23	chr2:73041800-73048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:73041800-73049600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:73041800-73051400	Weak transcription	Fetal Intestine Large	intestine
26	chr2:73042600-73050000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:73042600-73051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:73043600-73051000	Weak transcription	Hela-S3	cervix
29	chr2:73043800-73051400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:73044800-73049800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:73045000-73049400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:73045000-73049400	Weak transcription	Right Ventricle	heart
33	chr2:73045000-73051200	Weak transcription	Ovary	ovary
34	chr2:73045200-73049600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:73045200-73051800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:73045800-73051200	Weak transcription	Lung	lung
37	chr2:73046000-73051200	Weak transcription	Gastric	stomach
38	chr2:73046200-73049400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:73046200-73051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:73046400-73051600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:73046800-73051600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:73047000-73051000	Weak transcription	HepG2	liver
43	chr2:73047000-73051200	Weak transcription	Small Intestine	intestine
44	chr2:73047200-73051400	Weak transcription	A549	lung
45	chr2:73047400-73050000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:73047600-73049800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:73047800-73051200	Weak transcription	Fetal Lung	lung
48	chr2:73048000-73051200	Weak transcription	Stomach Mucosa	stomach
49	chr2:73048200-73048800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:73048200-73048800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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