Variant report

Variant	rs2438145
Chromosome Location	chr4:95413759-95413760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95413064..95415456-chr4:95417034..95419841,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2433317	0.90[ASN][1000 genomes]
rs2433318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2438141	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2438142	0.90[ASN][1000 genomes]
rs2452554	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2452556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2452557	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2452558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452559	0.90[ASN][1000 genomes]
rs2452560	0.90[ASN][1000 genomes]
rs2452561	0.88[ASN][1000 genomes]
rs2452562	0.90[ASN][1000 genomes]
rs2452564	0.90[ASN][1000 genomes]
rs2452565	0.89[ASN][1000 genomes]
rs2452566	0.87[ASN][1000 genomes]
rs2510791	0.88[ASN][1000 genomes]
rs2510792	0.90[ASN][1000 genomes]
rs2510794	0.90[ASN][1000 genomes]
rs2510795	0.90[ASN][1000 genomes]
rs2510798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510803	0.89[ASN][1000 genomes]
rs2510804	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
7	chr4:95400400-95415200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:95400800-95440000	Weak transcription	Lung	lung
9	chr4:95401800-95420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:95402000-95416800	Weak transcription	Pancreas	Pancrea
11	chr4:95403000-95416600	Weak transcription	Left Ventricle	heart
12	chr4:95403800-95417800	Weak transcription	HepG2	liver
13	chr4:95404000-95415000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:95405000-95429000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:95406000-95419800	Weak transcription	GM12878-XiMat	blood
16	chr4:95407200-95428000	Weak transcription	Placenta	Placenta
17	chr4:95408000-95428000	Weak transcription	K562	blood
18	chr4:95408200-95422000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:95409000-95422000	Weak transcription	Ovary	ovary
20	chr4:95409400-95419000	Weak transcription	Aorta	Aorta
21	chr4:95410200-95415000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:95410200-95415000	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:95410200-95416000	Weak transcription	Fetal Intestine Large	intestine
24	chr4:95410200-95422000	Weak transcription	Right Atrium	heart
25	chr4:95410400-95415200	Weak transcription	Psoas Muscle	Psoas
26	chr4:95410600-95415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:95411000-95427800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:95411800-95413800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:95412000-95413800	Enhancers	Fetal Heart	heart
30	chr4:95412200-95413800	Enhancers	HMEC	breast
31	chr4:95412200-95416200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:95412400-95415000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:95412400-95416600	Weak transcription	Right Ventricle	heart
34	chr4:95412400-95422000	Weak transcription	Liver	Liver
35	chr4:95412400-95424600	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:95412800-95415000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:95412800-95426000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:95412800-95428400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:95413000-95415000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:95413000-95426200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:95413200-95413800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:95413200-95415000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:95413200-95417800	Weak transcription	Stomach Mucosa	stomach
44	chr4:95413200-95418200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:95413200-95427400	Weak transcription	A549	lung
46	chr4:95413200-95428000	Weak transcription	Hela-S3	cervix
47	chr4:95413400-95413800	Weak transcription	HSMM	muscle
48	chr4:95413400-95413800	Weak transcription	Osteobl	bone
49	chr4:95413400-95414200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:95413400-95414800	Weak transcription	HUVEC	blood vessel

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