Variant report

Variant	rs73002551
Chromosome Location	chr11:76080206-76080207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr11:76080099-76080283	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76079303..76082514-chr11:76090617..76092781,5	K562	blood:

Variant related genes	Relation type
PRKRIR	TF binding region
ENSG00000137492	Chromatin interaction
ENSG00000179240	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17749447	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4320976	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56012153	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72998419	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73002532	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7948288	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9667145	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv521451	chr11:76053527-76087844	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76054600-76080600	Weak transcription	Psoas Muscle	Psoas
2	chr11:76056800-76080600	Weak transcription	Small Intestine	intestine
3	chr11:76059000-76082000	Weak transcription	HMEC	breast
4	chr11:76066200-76085800	Weak transcription	Esophagus	oesophagus
5	chr11:76066400-76089200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:76066400-76090000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:76066600-76080600	Weak transcription	Spleen	Spleen
8	chr11:76066600-76082000	Weak transcription	Right Ventricle	heart
9	chr11:76066600-76082000	Weak transcription	NH-A	brain
10	chr11:76066600-76090000	Weak transcription	Fetal Brain Female	brain
11	chr11:76066800-76082000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:76067400-76080600	Weak transcription	Right Atrium	heart
13	chr11:76067400-76082000	Weak transcription	NHLF	lung
14	chr11:76067600-76082000	Weak transcription	Aorta	Aorta
15	chr11:76067600-76082000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:76067600-76082000	Weak transcription	GM12878-XiMat	blood
17	chr11:76067600-76082000	Weak transcription	NHEK	skin
18	chr11:76067600-76082200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:76067600-76082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:76067600-76085800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:76067600-76090400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:76067600-76091000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:76067800-76080400	Weak transcription	Liver	Liver
24	chr11:76067800-76080400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:76067800-76082200	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:76067800-76087400	Weak transcription	Colonic Mucosa	Colon
27	chr11:76067800-76090000	Weak transcription	Lung	lung
28	chr11:76068200-76080400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:76068200-76082000	Weak transcription	HUVEC	blood vessel
30	chr11:76068400-76080600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:76071200-76082000	Weak transcription	A549	lung
32	chr11:76071400-76082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:76071800-76080600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:76071800-76082200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:76071800-76082400	Weak transcription	Primary T cells from cord blood	blood
36	chr11:76072200-76090400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:76072400-76082000	Weak transcription	Hela-S3	cervix
38	chr11:76072600-76082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:76073200-76082000	Weak transcription	Adipose Nuclei	Adipose
40	chr11:76073400-76082000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:76073400-76082000	Weak transcription	NHDF-Ad	bronchial
42	chr11:76073600-76082000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:76073600-76090000	Weak transcription	Primary B cells from cord blood	blood
44	chr11:76073800-76082200	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:76074800-76082000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:76075800-76080600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:76075800-76082000	Weak transcription	Osteobl	bone
48	chr11:76076000-76087400	Weak transcription	Dnd41	blood
49	chr11:76076400-76089800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:76076600-76080800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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