Variant report

Variant	rs34218488
Chromosome Location	chr2:233925406-233925407
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1141328	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994169	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28773607	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28854328	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35140857	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973063	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585583	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
2	chr2:233917000-233925800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233917400-233926000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:233922400-233926200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:233923000-233927800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:233924400-233925600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:233924400-233926800	Enhancers	K562	blood
8	chr2:233924400-233927200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr2:233924400-233927200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:233924400-233928800	Active TSS	Brain Hippocampus Middle	brain
11	chr2:233924600-233925600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:233924600-233925600	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr2:233924600-233926200	Active TSS	Left Ventricle	heart
14	chr2:233924600-233927000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:233924600-233927000	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:233924600-233928000	Active TSS	Brain Anterior Caudate	brain
17	chr2:233924600-233929200	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:233924800-233926000	Active TSS	Psoas Muscle	Psoas
19	chr2:233924800-233926000	Active TSS	Right Atrium	heart
20	chr2:233924800-233926400	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr2:233924800-233926400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr2:233924800-233926800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:233924800-233927000	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr2:233924800-233927000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:233924800-233927200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:233924800-233927200	Active TSS	Brain Cingulate Gyrus	brain
27	chr2:233924800-233927200	Active TSS	Small Intestine	intestine
28	chr2:233924800-233927400	Active TSS	Liver	Liver
29	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr2:233924800-233927400	Flanking Active TSS	HUVEC	blood vessel
32	chr2:233924800-233927600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr2:233924800-233929800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr2:233925000-233925600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
35	chr2:233925000-233925600	Active TSS	Fetal Kidney	kidney
36	chr2:233925000-233925800	Active TSS	Primary T cells from cord blood	blood
37	chr2:233925000-233925800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:233925000-233925800	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:233925000-233925800	Active TSS	Placenta	Placenta
40	chr2:233925000-233926000	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr2:233925000-233926000	Flanking Active TSS	Spleen	Spleen
42	chr2:233925000-233926200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:233925000-233926200	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr2:233925000-233926200	Active TSS	Thymus	Thymus
45	chr2:233925000-233926200	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:233925000-233926400	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr2:233925000-233926400	Active TSS	Primary B cells from peripheral blood	blood
48	chr2:233925000-233926400	Flanking Active TSS	Fetal Stomach	stomach
49	chr2:233925000-233926400	Active TSS	Gastric	stomach
50	chr2:233925000-233926600	Active TSS	GM12878-XiMat	blood

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