Variant report

Variant	rs6859991
Chromosome Location	chr5:75909926-75909927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75906209..75908634-chr5:75909482..75912617,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2069676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2069679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2069682	0.98[ASN][1000 genomes]
rs2069683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2069697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75879000-75913600	Weak transcription	Colonic Mucosa	Colon
2	chr5:75879000-75917600	Weak transcription	Fetal Thymus	thymus
3	chr5:75879000-75934000	Weak transcription	Small Intestine	intestine
4	chr5:75879200-75919000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:75880200-75933400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
7	chr5:75884000-75914600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr5:75884400-75919200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:75884400-75919400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:75891000-75911800	Weak transcription	Thymus	Thymus
11	chr5:75891200-75911800	Strong transcription	Liver	Liver
12	chr5:75892000-75910400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:75895200-75912800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:75896800-75913800	Weak transcription	Pancreas	Pancrea
15	chr5:75901200-75911200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:75901200-75917000	Weak transcription	HUVEC	blood vessel
17	chr5:75901400-75912400	Weak transcription	Fetal Intestine Large	intestine
18	chr5:75902600-75919200	Strong transcription	Primary T cells from cord blood	blood
19	chr5:75903600-75914800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:75903600-75917800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:75903800-75910000	Weak transcription	Osteobl	bone
22	chr5:75903800-75910600	Weak transcription	Ovary	ovary
23	chr5:75903800-75910800	Weak transcription	NHDF-Ad	bronchial
24	chr5:75903800-75913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:75903800-75914400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:75903800-75916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:75903800-75916000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:75903800-75917800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:75903800-75918800	Weak transcription	Fetal Kidney	kidney
30	chr5:75903800-75918800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:75903800-75936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:75903800-75943600	Weak transcription	Spleen	Spleen
33	chr5:75904000-75911400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:75904000-75911400	Weak transcription	Fetal Lung	lung
35	chr5:75904000-75911800	Weak transcription	NHLF	lung
36	chr5:75905000-75911800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:75905000-75915600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:75905200-75911400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:75905200-75912600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:75905200-75913000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:75905200-75919000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:75906200-75911000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:75906200-75915800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:75906600-75910200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:75906800-75910400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:75906800-75910400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr5:75906800-75912000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:75906800-75915600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:75907000-75910200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:75907000-75911200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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