Variant report

Variant	rs13424241
Chromosome Location	chr2:33594737-33594738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33294968..33295923-chr2:33594558..33595514,5	MCF-7	breast:
2	chr2:33416981..33417792-chr2:33594508..33595116,3	MCF-7	breast:
3	chr2:33295016..33295604-chr2:33594643..33595514,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1017677	0.84[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10495787	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11885449	0.80[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs11891105	0.80[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11899010	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs13009128	0.96[ASN][1000 genomes]
rs13385066	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012911	0.90[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs17012917	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs17012922	0.96[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1869449	0.80[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2015189	0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2305502	0.82[JPT][hapmap]
rs3769550	0.84[JPT][hapmap]
rs3820909	0.88[ASN][1000 genomes]
rs58804388	0.82[ASN][1000 genomes]
rs59136259	0.95[ASN][1000 genomes]
rs59877056	0.95[ASN][1000 genomes]
rs60514603	0.94[ASN][1000 genomes]
rs6711211	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6719824	0.90[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7566302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
3	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
5	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:33588400-33624400	Weak transcription	Gastric	stomach
8	chr2:33588800-33596000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:33589200-33598000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:33589400-33594800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:33589600-33595000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:33589600-33597600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:33590000-33595200	Weak transcription	K562	blood
15	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:33590800-33595000	Weak transcription	Left Ventricle	heart
18	chr2:33590800-33596000	Weak transcription	Esophagus	oesophagus
19	chr2:33590800-33612600	Weak transcription	Ovary	ovary
20	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:33591800-33595800	Weak transcription	Brain Substantia Nigra	brain
22	chr2:33591800-33595800	Weak transcription	Fetal Lung	lung
23	chr2:33591800-33596000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:33591800-33601800	Weak transcription	NHLF	lung
25	chr2:33592000-33595000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:33592000-33595400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:33592000-33595600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:33592000-33595600	Weak transcription	Fetal Heart	heart
29	chr2:33592000-33595600	Weak transcription	NHDF-Ad	bronchial
30	chr2:33592000-33595800	Weak transcription	Brain Anterior Caudate	brain
31	chr2:33592000-33595800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:33592000-33596200	Weak transcription	Brain Angular Gyrus	brain
33	chr2:33592000-33597000	Strong transcription	Osteobl	bone
34	chr2:33592000-33600200	Weak transcription	Psoas Muscle	Psoas
35	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:33592400-33594800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:33592400-33595200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:33592400-33601600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:33592600-33595400	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:33593000-33595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:33593800-33598400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:33594400-33596400	Strong transcription	Liver	Liver
43	chr2:33594400-33596600	Strong transcription	NH-A	brain
44	chr2:33594400-33597200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:33594600-33596200	Strong transcription	Aorta	Aorta

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