Variant report

Variant	rs4993283
Chromosome Location	chr2:173310331-173310332
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	chr2:173305610..173308515-chr2:173310023..173312671,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10171775	0.86[ASN][1000 genomes]
rs10175670	0.85[ASN][1000 genomes]
rs10184567	0.92[EUR][1000 genomes]
rs10195932	0.85[ASN][1000 genomes]
rs10197251	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10497381	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1076595	0.92[EUR][1000 genomes]
rs12469875	0.85[ASN][1000 genomes]
rs12622044	0.85[ASN][1000 genomes]
rs16860377	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3762619	0.87[ASN][1000 genomes]
rs3934627	0.85[ASN][1000 genomes]
rs4281870	0.89[ASN][1000 genomes]
rs4480959	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4993282	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9711634	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173304200-173311400	Weak transcription	Liver	Liver
2	chr2:173304600-173310400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:173305000-173310400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:173305000-173316800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:173306200-173310400	Weak transcription	Fetal Lung	lung
6	chr2:173306200-173311200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:173306800-173311400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:173306800-173316400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:173307000-173310600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:173307200-173318600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:173307400-173310400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:173307400-173310400	Weak transcription	Gastric	stomach
13	chr2:173307400-173310400	Weak transcription	Spleen	Spleen
14	chr2:173307400-173310400	Weak transcription	NHLF	lung
15	chr2:173307400-173310600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:173307400-173312800	Weak transcription	Fetal Kidney	kidney
17	chr2:173307400-173313600	Weak transcription	Placenta	Placenta
18	chr2:173307400-173322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:173307600-173310400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:173307600-173310400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:173307600-173310400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:173307600-173310400	Weak transcription	Fetal Thymus	thymus
23	chr2:173307600-173310400	Weak transcription	Left Ventricle	heart
24	chr2:173307600-173310400	Weak transcription	Lung	lung
25	chr2:173307600-173310400	Weak transcription	Pancreas	Pancrea
26	chr2:173307600-173310400	Weak transcription	Right Atrium	heart
27	chr2:173307600-173310400	Weak transcription	HUVEC	blood vessel
28	chr2:173307600-173310600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:173307600-173310600	Genic enhancers	NHEK	skin
30	chr2:173307600-173312400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:173307600-173312400	Weak transcription	Colonic Mucosa	Colon
32	chr2:173307600-173312600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:173307600-173312600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:173307600-173312600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:173307600-173313400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:173307600-173313600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:173307600-173313800	Weak transcription	Right Ventricle	heart
38	chr2:173307600-173314000	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:173307600-173314600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:173307600-173314800	Weak transcription	Esophagus	oesophagus
41	chr2:173307600-173315600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr2:173307600-173321000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:173307800-173310600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:173307800-173310600	Weak transcription	NH-A	brain
45	chr2:173307800-173310800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:173307800-173312400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:173308000-173310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:173308000-173312000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:173308000-173312600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:173308000-173313800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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