Variant report

Variant	rs2063448
Chromosome Location	chr4:26328848-26328849
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	chr4:26328721..26330790-chr4:26341132..26343403,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1397729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1567545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1967281	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2667064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2725321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2725326	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788855	0.93[AMR][1000 genomes]
rs2788856	0.90[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788859	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788862	1.00[EUR][1000 genomes]
rs3109831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3109840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3109846	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3109847	1.00[AMR][1000 genomes]
rs3109853	0.93[AMR][1000 genomes]
rs3109854	0.93[AMR][1000 genomes]
rs3113014	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3113027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3113028	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3113030	0.86[AMR][1000 genomes]
rs57899161	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6856923	0.86[AMR][1000 genomes]
rs7665261	0.85[AMR][1000 genomes]
rs7689471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs907273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv829889	chr4:26169954-26338313	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26323800-26330200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:26323800-26332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:26323800-26333000	Weak transcription	Small Intestine	intestine
4	chr4:26323800-26374400	Weak transcription	Lung	lung
5	chr4:26324000-26332600	Weak transcription	Left Ventricle	heart
6	chr4:26324000-26332600	Weak transcription	Psoas Muscle	Psoas
7	chr4:26324000-26332800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:26324000-26332800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:26324000-26332800	Weak transcription	Pancreas	Pancrea
10	chr4:26324000-26332800	Weak transcription	Spleen	Spleen
11	chr4:26324200-26332600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:26324200-26332800	Weak transcription	Right Ventricle	heart
13	chr4:26324400-26332200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:26324400-26332200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:26324600-26333200	Weak transcription	Thymus	Thymus
16	chr4:26324800-26331600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:26324800-26332000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:26325000-26329400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:26325000-26331600	Weak transcription	Primary B cells from cord blood	blood
20	chr4:26325000-26334200	Weak transcription	Fetal Intestine Small	intestine
21	chr4:26325000-26338000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:26325000-26374200	Weak transcription	Fetal Intestine Large	intestine
23	chr4:26325400-26332600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:26325600-26332000	Weak transcription	Brain Germinal Matrix	brain
25	chr4:26325600-26343600	Weak transcription	Primary T cells from cord blood	blood
26	chr4:26325800-26329200	Enhancers	HSMM	muscle
27	chr4:26325800-26331800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:26325800-26332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:26325800-26332000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:26325800-26332000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:26325800-26333200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:26325800-26343000	Weak transcription	Fetal Stomach	stomach
33	chr4:26326000-26329800	Enhancers	HSMMtube	muscle
34	chr4:26326000-26330400	Enhancers	Osteobl	bone
35	chr4:26326000-26332200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:26326000-26332200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:26326000-26332200	Weak transcription	Liver	Liver
38	chr4:26326000-26332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:26326000-26341600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:26326000-26344200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:26326200-26330600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:26326400-26329000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:26326400-26330400	Weak transcription	Ovary	ovary
44	chr4:26326400-26332200	Weak transcription	Fetal Brain Male	brain
45	chr4:26326400-26332600	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:26326600-26339600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:26326800-26329000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:26326800-26332000	Weak transcription	HepG2	liver
49	chr4:26326800-26332200	Weak transcription	Adipose Nuclei	Adipose
50	chr4:26327000-26330200	Weak transcription	Colon Smooth Muscle	Colon

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