Variant report

Variant	rs34444151
Chromosome Location	chr2:149528738-149528739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149402113..149404005-chr2:149526018..149528921,2	K562	blood:
2	chr2:149401934..149404743-chr2:149527223..149529947,2	MCF-7	breast:
3	chr2:149523970..149526023-chr2:149527670..149529973,2	K562	blood:

Variant related genes	Relation type
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28703820	1.00[AMR][1000 genomes]
rs58527922	1.00[AMR][1000 genomes]
rs7588725	1.00[AMR][1000 genomes]
rs7600923	1.00[AMR][1000 genomes]
rs7606119	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149495200-149542000	Weak transcription	Right Atrium	heart
2	chr2:149500200-149541200	Weak transcription	HUVEC	blood vessel
3	chr2:149508400-149545400	Weak transcription	Stomach Mucosa	stomach
4	chr2:149510200-149541000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:149510200-149541400	Weak transcription	Fetal Heart	heart
6	chr2:149510800-149542200	Weak transcription	Aorta	Aorta
7	chr2:149511800-149541200	Weak transcription	Brain Germinal Matrix	brain
8	chr2:149512400-149534200	Weak transcription	Fetal Stomach	stomach
9	chr2:149512400-149542200	Weak transcription	Psoas Muscle	Psoas
10	chr2:149515600-149542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:149517600-149531600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:149517600-149531800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:149518200-149535600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:149518200-149540400	Weak transcription	Hela-S3	cervix
15	chr2:149518600-149531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:149519800-149542200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:149520200-149531200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:149520600-149559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:149522000-149532200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:149522000-149541200	Weak transcription	Pancreas	Pancrea
21	chr2:149522400-149529400	Strong transcription	Liver	Liver
22	chr2:149522600-149528800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:149522600-149530600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:149522800-149546400	Weak transcription	Right Ventricle	heart
25	chr2:149523000-149531000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:149523000-149542000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:149523200-149529800	Strong transcription	Fetal Intestine Large	intestine
28	chr2:149523200-149530400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:149523400-149529400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:149523400-149530400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:149523400-149530600	Strong transcription	Fetal Thymus	thymus
32	chr2:149523800-149530200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:149523800-149532000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:149524000-149529200	Strong transcription	Thymus	Thymus
35	chr2:149524000-149529200	Strong transcription	HepG2	liver
36	chr2:149524000-149529400	Strong transcription	Primary T cells from cord blood	blood
37	chr2:149524000-149529400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:149524000-149529400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:149524000-149529400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:149524000-149529400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:149524000-149529400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:149524000-149529600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:149524000-149529800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:149524000-149530600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:149524000-149531000	Strong transcription	Dnd41	blood
46	chr2:149524200-149529400	Strong transcription	Primary B cells from cord blood	blood
47	chr2:149524200-149529400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:149524200-149529600	Strong transcription	Left Ventricle	heart
49	chr2:149524600-149529200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:149524600-149529600	Strong transcription	Adipose Nuclei	Adipose

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