Variant report

Variant	rs17046066
Chromosome Location	chr2:54867466-54867467
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54864735..54867892-chr2:54868332..54870818,3	K562	blood:
2	chr2:54843777..54846738-chr2:54866756..54869146,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17046063	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]
rs56695142	0.89[ASN][1000 genomes]
rs60939675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72920540	0.89[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	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	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54846600-54898000	Strong transcription	Dnd41	blood
9	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:54848000-54868800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:54848600-54892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:54857000-54869400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:54857000-54883400	Strong transcription	Hela-S3	cervix
14	chr2:54859400-54873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:54860400-54872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:54862200-54867800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:54862400-54892800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:54862600-54869800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:54862600-54892400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:54862600-54892400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:54862600-54893400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:54862600-54898400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:54863000-54868200	Strong transcription	Fetal Intestine Large	intestine
26	chr2:54863000-54892000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr2:54863000-54892200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:54863000-54892400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:54863000-54895000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
32	chr2:54863200-54867800	Strong transcription	Brain Germinal Matrix	brain
33	chr2:54863200-54886200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:54863400-54867600	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr2:54863600-54868000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:54863600-54868600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:54863600-54879400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:54863600-54897000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:54863800-54868200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:54863800-54897400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:54863800-54898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:54864000-54868000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:54864200-54869000	Weak transcription	Aorta	Aorta
44	chr2:54864200-54871400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:54864200-54885400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:54864200-54885400	Strong transcription	NH-A	brain
47	chr2:54864200-54893600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:54864400-54868200	Strong transcription	Osteobl	bone
49	chr2:54865200-54879400	Strong transcription	Thymus	Thymus
50	chr2:54865400-54868800	Genic enhancers	Brain Anterior Caudate	brain

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