Variant report

Variant	rs1097591
Chromosome Location	chr5:40838928-40838929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40753675..40755258-chr5:40838374..40840873,3	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1631660	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs188933	0.84[EUR][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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40835800-40841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:40836000-40841200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:40836000-40841200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:40836000-40843600	Weak transcription	Spleen	Spleen
5	chr5:40836000-40852600	Weak transcription	Small Intestine	intestine
6	chr5:40836200-40840800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:40836200-40841000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:40836200-40841000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:40836200-40841200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:40836400-40839200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:40836400-40840800	Weak transcription	Primary T cells from cord blood	blood
12	chr5:40836400-40840800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:40836400-40841000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:40836400-40841000	Weak transcription	Right Ventricle	heart
15	chr5:40836400-40841200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:40836400-40841200	Weak transcription	Fetal Thymus	thymus
17	chr5:40836400-40841200	Weak transcription	Left Ventricle	heart
18	chr5:40836400-40841200	Weak transcription	Pancreas	Pancrea
19	chr5:40836400-40841400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:40836600-40840800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:40836600-40840800	Weak transcription	A549	lung
22	chr5:40836600-40840800	Weak transcription	HUVEC	blood vessel
23	chr5:40836600-40840800	Weak transcription	NHLF	lung
24	chr5:40836600-40841000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:40836600-40841000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:40836600-40841000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:40836600-40841000	Weak transcription	Fetal Lung	lung
28	chr5:40836600-40841000	Weak transcription	Placenta	Placenta
29	chr5:40836600-40841000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:40836600-40841000	Weak transcription	GM12878-XiMat	blood
31	chr5:40836600-40841200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:40836600-40841200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:40836600-40841200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:40836600-40841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:40836600-40841200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:40836600-40841200	Weak transcription	Fetal Intestine Small	intestine
37	chr5:40836600-40841200	Weak transcription	HSMMtube	muscle
38	chr5:40836600-40841200	Weak transcription	NH-A	brain
39	chr5:40836800-40840800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:40836800-40841000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:40836800-40841000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:40836800-40841000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:40836800-40841000	Weak transcription	Liver	Liver
44	chr5:40836800-40841000	Weak transcription	Osteobl	bone
45	chr5:40836800-40841200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:40836800-40841200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:40836800-40841200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:40836800-40841200	Weak transcription	HSMM	muscle
49	chr5:40837000-40841000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:40837000-40841000	Weak transcription	HMEC	breast

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