Variant report

Variant	rs17046063
Chromosome Location	chr2:54864086-54864087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54848170..54851894-chr2:54862208..54864352,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17046066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271326	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796016	0.89[ASN][1000 genomes]
rs56115900	0.92[AFR][1000 genomes]
rs56695142	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs60939675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716759	0.83[AFR][1000 genomes]
rs72920540	0.89[ASN][1000 genomes]
rs73934495	0.80[AFR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr2:54846200-54864400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:54846600-54898000	Strong transcription	Dnd41	blood
12	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:54847400-54865800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:54848000-54868800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:54848600-54892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:54850600-54864200	Genic enhancers	Liver	Liver
17	chr2:54851800-54864200	Genic enhancers	Left Ventricle	heart
18	chr2:54857000-54869400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:54857000-54883400	Strong transcription	Hela-S3	cervix
20	chr2:54858600-54864200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:54859400-54873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:54859800-54864200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:54860200-54864400	Genic enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:54860400-54864200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr2:54860400-54865800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:54860400-54872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:54860600-54865800	Strong transcription	HepG2	liver
28	chr2:54860800-54864200	Genic enhancers	Brain Anterior Caudate	brain
29	chr2:54860800-54866400	Genic enhancers	Primary B cells from cord blood	blood
30	chr2:54861200-54864200	Enhancers	Brain Substantia Nigra	brain
31	chr2:54861200-54864600	Genic enhancers	Brain Angular Gyrus	brain
32	chr2:54861600-54864200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:54862000-54864200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:54862000-54865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:54862200-54865000	Weak transcription	Small Intestine	intestine
37	chr2:54862200-54867800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:54862400-54864400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:54862400-54865600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:54862400-54865800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:54862400-54892800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:54862600-54864400	Enhancers	Colon Smooth Muscle	Colon
44	chr2:54862600-54864800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:54862600-54865000	Enhancers	Fetal Heart	heart
46	chr2:54862600-54865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:54862600-54865800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:54862600-54866000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:54862600-54866800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:54862600-54869800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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