Variant report

Variant	rs58213273
Chromosome Location	chr3:45711482-45711483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:45581238..45584462-chr3:45709021..45711737,3	K562	blood:
2	chr3:45668147..45669846-chr3:45709201..45711497,2	K562	blood:
3	chr3:45709772..45712086-chr3:45729830..45732192,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011376	Chromatin interaction
ENSG00000211456	Chromatin interaction
ENSG00000230530	Chromatin interaction

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

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

rs_ID	r²[population]
rs13316599	0.83[AMR][1000 genomes]
rs28401433	0.85[AMR][1000 genomes]
rs56404048	0.83[AMR][1000 genomes]
rs57013034	0.83[AMR][1000 genomes]
rs61603235	0.85[AMR][1000 genomes]
rs6778381	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6780893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6786791	0.85[AMR][1000 genomes]
rs72882544	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830443	0.83[AMR][1000 genomes]
rs73830458	0.85[AMR][1000 genomes]
rs73830463	0.83[AMR][1000 genomes]
rs9811206	0.85[AMR][1000 genomes]
rs9823820	0.85[AMR][1000 genomes]
rs9827350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9850601	1.00[AFR][1000 genomes];1.00[AMR][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	esv34130	chr3:45609075-45796657	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45694200-45713800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:45702200-45714000	Weak transcription	Ovary	ovary
3	chr3:45706400-45712600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:45706600-45714200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:45706600-45729800	Weak transcription	Small Intestine	intestine
6	chr3:45706800-45716600	Strong transcription	Primary B cells from cord blood	blood
7	chr3:45706800-45721200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:45707000-45714600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:45707000-45717400	Strong transcription	Dnd41	blood
10	chr3:45707000-45717600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr3:45707200-45714000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:45707200-45716400	Strong transcription	HepG2	liver
13	chr3:45707200-45716800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:45707200-45716800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr3:45707400-45712800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr3:45707400-45714600	Strong transcription	Fetal Intestine Large	intestine
17	chr3:45707400-45716600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:45707400-45716600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:45707400-45716600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:45707400-45717200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr3:45707400-45717600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:45707400-45717600	Strong transcription	Liver	Liver
23	chr3:45707400-45717800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:45707400-45718000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:45707600-45713400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:45707600-45714000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:45707600-45714200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:45707600-45716600	Strong transcription	Primary T cells from cord blood	blood
29	chr3:45707600-45717000	Strong transcription	Thymus	Thymus
30	chr3:45707600-45717400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:45707800-45717600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:45707800-45729600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:45708000-45713800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:45708000-45713800	Weak transcription	Esophagus	oesophagus
35	chr3:45708000-45716600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr3:45708200-45712600	Weak transcription	Gastric	stomach
37	chr3:45708200-45713800	Weak transcription	Aorta	Aorta
38	chr3:45708200-45714000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:45708200-45714200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:45708200-45715600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr3:45708400-45712600	Weak transcription	Spleen	Spleen
42	chr3:45708400-45713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:45708400-45713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:45708400-45714200	Weak transcription	Stomach Mucosa	stomach
45	chr3:45708400-45714600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:45708400-45717600	Strong transcription	Fetal Intestine Small	intestine
47	chr3:45708600-45712600	Weak transcription	Lung	lung
48	chr3:45708800-45713800	Weak transcription	Colonic Mucosa	Colon
49	chr3:45709000-45713600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:45709000-45714000	Weak transcription	Right Ventricle	heart

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