Variant report

Variant	rs11743721
Chromosome Location	chr5:177635084-177635085
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177545145..177547766-chr5:177633548..177635586,2	K562	blood:
2	chr5:177632239..177635165-chr5:179247019..179248858,2	K562	blood:
3	chr5:177633748..177635466-chr5:177877015..177878524,2	K562	blood:
4	chr5:177634469..177636914-chr5:178050072..178052973,2	K562	blood:
5	chr17:75282717..75283709-chr5:177635068..177635900,2	Hela-S3	cervix:
6	chr5:177561649..177563413-chr5:177634433..177636302,2	K562	blood:

Variant related genes	Relation type
ENSG00000161011	Chromatin interaction
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1134369	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11750481	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17080447	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17577590	0.85[ASN][1000 genomes]
rs17639362	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55653122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58591737	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72817294	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72819004	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7705559	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7705704	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers 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	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177632400-177635200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:177632600-177635200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr5:177632600-177635200	Transcr. at gene 5' and 3'	Hela-S3	cervix
4	chr5:177632600-177635400	Transcr. at gene 5' and 3'	A549	lung
5	chr5:177632600-177635600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
6	chr5:177632600-177636200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
7	chr5:177632600-177636600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr5:177633000-177635200	Genic enhancers	Spleen	Spleen
9	chr5:177633000-177643000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:177633200-177635200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:177633200-177635200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
12	chr5:177633400-177636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:177633400-177636200	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr5:177633400-177636600	Genic enhancers	Gastric	stomach
15	chr5:177633600-177635200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:177633600-177635200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:177633600-177635200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:177633600-177635200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:177633600-177635200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:177633600-177635200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:177633600-177635200	Genic enhancers	Liver	Liver
22	chr5:177633600-177635200	Genic enhancers	Brain Substantia Nigra	brain
23	chr5:177633600-177635200	Genic enhancers	Left Ventricle	heart
24	chr5:177633600-177635200	Genic enhancers	Lung	lung
25	chr5:177633600-177635200	Genic enhancers	Pancreas	Pancrea
26	chr5:177633600-177635200	Genic enhancers	Right Ventricle	heart
27	chr5:177633600-177635200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
28	chr5:177633600-177635200	Genic enhancers	HepG2	liver
29	chr5:177633600-177635200	Genic enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:177633600-177635400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:177633600-177635400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:177633600-177635400	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr5:177633600-177635600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:177633600-177635800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr5:177633600-177635800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:177633600-177636000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:177633600-177636200	Genic enhancers	Fetal Muscle Leg	muscle
38	chr5:177633600-177639600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:177633600-177643200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr5:177633600-177644000	Genic enhancers	Fetal Intestine Large	intestine
41	chr5:177633800-177635200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:177633800-177635200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:177633800-177635200	Genic enhancers	Esophagus	oesophagus
44	chr5:177633800-177635200	Genic enhancers	Fetal Heart	heart
45	chr5:177633800-177635200	Genic enhancers	Fetal Thymus	thymus
46	chr5:177633800-177635200	Genic enhancers	NHEK	skin
47	chr5:177633800-177635400	Genic enhancers	Primary hematopoietic stem cells	blood
48	chr5:177633800-177635400	Genic enhancers	Psoas Muscle	Psoas
49	chr5:177633800-177635800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:177633800-177635800	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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