Variant report

Variant	rs17012887
Chromosome Location	chr2:33594357-33594358
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33585442..33588123-chr2:33592838..33594363,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12105119	1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12105747	0.83[EUR][1000 genomes]
rs12105856	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12105947	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012864	1.00[JPT][hapmap]
rs17012919	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs17644939	1.00[JPT][hapmap]
rs1869451	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3731573	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3769551	1.00[ASN][1000 genomes]
rs55766721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284019	1.00[ASN][1000 genomes]
rs6719824	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs72802025	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802036	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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:47 , 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	chr2:33581400-33594400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
6	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:33588400-33624400	Weak transcription	Gastric	stomach
9	chr2:33588800-33596000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:33589200-33598000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:33589400-33594800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:33589600-33595000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:33589600-33597600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:33590000-33595200	Weak transcription	K562	blood
16	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:33590800-33594400	Weak transcription	Liver	Liver
19	chr2:33590800-33594600	Weak transcription	Aorta	Aorta
20	chr2:33590800-33595000	Weak transcription	Left Ventricle	heart
21	chr2:33590800-33596000	Weak transcription	Esophagus	oesophagus
22	chr2:33590800-33612600	Weak transcription	Ovary	ovary
23	chr2:33591200-33594400	Weak transcription	NH-A	brain
24	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:33591800-33594400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:33591800-33594400	Weak transcription	HMEC	breast
27	chr2:33591800-33595800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:33591800-33595800	Weak transcription	Fetal Lung	lung
29	chr2:33591800-33596000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:33591800-33601800	Weak transcription	NHLF	lung
31	chr2:33592000-33595000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:33592000-33595400	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:33592000-33595600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:33592000-33595600	Weak transcription	Fetal Heart	heart
35	chr2:33592000-33595600	Weak transcription	NHDF-Ad	bronchial
36	chr2:33592000-33595800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:33592000-33595800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:33592000-33596200	Weak transcription	Brain Angular Gyrus	brain
39	chr2:33592000-33597000	Strong transcription	Osteobl	bone
40	chr2:33592000-33600200	Weak transcription	Psoas Muscle	Psoas
41	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:33592400-33594800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:33592400-33595200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:33592400-33601600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:33592600-33595400	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:33593000-33595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:33593800-33598400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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