Variant report

Variant	rs2444299
Chromosome Location	chr2:7148453-7148454
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:7057062..7058871-chr2:7146022..7148519,2	K562	blood:
2	chr2:7147550..7151799-chr2:7153014..7155237,5	MCF-7	breast:
3	chr2:7056133..7058290-chr2:7146268..7148776,3	K562	blood:
4	chr2:7148131..7149013-chr2:7157451..7158410,4	MCF-7	breast:
5	chr2:7148131..7149021-chr2:7157451..7158410,5	MCF-7	breast:
6	chr2:7062503..7063110-chr2:7147599..7148579,3	MCF-7	breast:
7	chr2:7142289..7144797-chr2:7147566..7149207,2	K562	blood:
8	chr2:7142289..7146091-chr2:7146579..7150616,5	K562	blood:
9	chr2:7006003..7009208-chr2:7148136..7150396,3	MCF-7	breast:
10	chr2:7055201..7058278-chr2:7146257..7149807,3	MCF-7	breast:
11	chr2:7143200..7144893-chr2:7148159..7150235,2	MCF-7	breast:
12	chr2:7145702..7149842-chr2:7151104..7154625,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134326	Chromatin interaction
ENSG00000228203	Chromatin interaction
ENSG00000151692	Chromatin interaction

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

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

rs_ID	r²[population]
rs2460401	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs309309	0.86[EUR][1000 genomes]
rs309316	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309318	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309320	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs309324	0.87[EUR][1000 genomes]
rs364891	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs388038	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs397865	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs407427	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs407798	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs436955	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs441766	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs443363	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs454213	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73141632	0.81[EUR][1000 genomes]
rs771273	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
3	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:7131400-7150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:7131400-7162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:7131600-7154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:7131600-7154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:7133800-7150800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:7137200-7149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:7137400-7160200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:7139600-7149800	Weak transcription	Ovary	ovary
14	chr2:7141800-7151200	Strong transcription	Primary T cells from cord blood	blood
15	chr2:7142600-7163000	Weak transcription	Small Intestine	intestine
16	chr2:7143600-7149200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:7143800-7149200	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:7143800-7150400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:7144200-7154600	Weak transcription	HepG2	liver
20	chr2:7144400-7150400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:7145000-7150600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:7145200-7156200	Enhancers	Brain Angular Gyrus	brain
23	chr2:7146400-7151200	Enhancers	Left Ventricle	heart
24	chr2:7146400-7153000	Enhancers	Right Ventricle	heart
25	chr2:7146600-7148600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:7146600-7148800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:7146600-7149000	Enhancers	Spleen	Spleen
28	chr2:7146600-7152800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:7146800-7149200	Enhancers	Lung	lung
30	chr2:7146800-7149400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:7146800-7150600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:7146800-7151200	Enhancers	Pancreas	Pancrea
33	chr2:7146800-7151200	Enhancers	Psoas Muscle	Psoas
34	chr2:7146800-7156000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:7147000-7148600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:7147000-7148600	Enhancers	Primary B cells from cord blood	blood
37	chr2:7147000-7148800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:7147000-7148800	Enhancers	Brain Germinal Matrix	brain
39	chr2:7147000-7149000	Enhancers	Fetal Lung	lung
40	chr2:7147000-7154800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:7147200-7158600	Enhancers	Colon Smooth Muscle	Colon
42	chr2:7147400-7148800	Enhancers	GM12878-XiMat	blood
43	chr2:7147400-7150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:7147400-7151000	Enhancers	Fetal Thymus	thymus
45	chr2:7147400-7151200	Enhancers	Fetal Muscle Trunk	muscle
46	chr2:7147400-7151800	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:7147400-7152200	Enhancers	NH-A	brain
48	chr2:7147400-7154000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:7147400-7156000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:7147400-7157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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