Variant report

Variant	rs74052462
Chromosome Location	chr11:4627503-4627504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4625479..4627156-chr11:4627233..4629279,2	K562	blood:
2	chr11:4620058..4622735-chr11:4626222..4629091,3	K562	blood:
3	chr11:4619365..4621558-chr11:4626252..4629277,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10768113	0.88[EUR][1000 genomes]
rs10768130	0.85[EUR][1000 genomes]
rs11033015	0.88[EUR][1000 genomes]
rs11033044	0.88[EUR][1000 genomes]
rs11033047	0.88[EUR][1000 genomes]
rs11033082	0.90[EUR][1000 genomes]
rs16917882	0.95[EUR][1000 genomes]
rs17221921	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2231978	0.90[EUR][1000 genomes]
rs3844036	0.90[EUR][1000 genomes]
rs3861787	0.85[EUR][1000 genomes]
rs3861788	0.85[EUR][1000 genomes]
rs3861789	0.85[EUR][1000 genomes]
rs4622249	0.90[EUR][1000 genomes]
rs56113312	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61218021	0.95[EUR][1000 genomes]
rs61997187	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61997192	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62622512	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74052453	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74052458	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74052459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74052461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74052463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74052479	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7950390	0.88[EUR][1000 genomes]
rs7951206	0.95[EUR][1000 genomes]
rs986537	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1047344	chr11:4524493-4630740	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1054705	chr11:4582150-4687238	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv896914	chr11:4587940-4631352	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv553173	chr11:4587940-4689742	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1054801	chr11:4590126-4689520	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv540923	chr11:4590126-4689520	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv553174	chr11:4592718-4682376	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1041836	chr11:4594628-4685732	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv540924	chr11:4594628-4685732	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv1047741	chr11:4598125-4689520	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv540925	chr11:4598125-4689520	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv540926	chr11:4621196-4639254	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4618000-4628000	Weak transcription	K562	blood
2	chr11:4618400-4627600	Weak transcription	Fetal Heart	heart
3	chr11:4618600-4627800	Strong transcription	Fetal Muscle Leg	muscle
4	chr11:4618600-4628400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:4619400-4628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:4620200-4628000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:4620600-4628400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:4620800-4628000	Weak transcription	NH-A	brain
9	chr11:4622600-4628000	Weak transcription	NHEK	skin
10	chr11:4622600-4628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:4622600-4628600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:4622800-4628200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:4623000-4628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:4623200-4627800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:4623200-4628000	Weak transcription	Small Intestine	intestine
16	chr11:4623400-4628200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:4623400-4628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:4623400-4628400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:4623600-4628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:4623800-4628000	Weak transcription	Colonic Mucosa	Colon
21	chr11:4623800-4628400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:4624200-4628000	Weak transcription	Brain Germinal Matrix	brain
23	chr11:4624200-4628600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:4624400-4627600	Weak transcription	Fetal Kidney	kidney
25	chr11:4624400-4627800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:4624400-4628200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:4624600-4627600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:4624800-4627600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:4624800-4627800	Weak transcription	Fetal Brain Female	brain
30	chr11:4624800-4628000	Weak transcription	Right Ventricle	heart
31	chr11:4625000-4627600	Weak transcription	HUVEC	blood vessel
32	chr11:4625000-4628200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:4625600-4627800	Weak transcription	Fetal Thymus	thymus
34	chr11:4626000-4627600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:4626000-4628200	Weak transcription	Fetal Brain Male	brain
36	chr11:4626200-4627600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:4626200-4627600	Weak transcription	Osteobl	bone
38	chr11:4626200-4627800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:4626200-4628000	Weak transcription	HSMM	muscle
40	chr11:4626400-4627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:4626400-4627600	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:4626400-4627600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:4626400-4627600	Weak transcription	GM12878-XiMat	blood
44	chr11:4626400-4627600	Weak transcription	HMEC	breast
45	chr11:4626400-4628000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:4626400-4628200	Weak transcription	HSMMtube	muscle
47	chr11:4626400-4628400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:4626600-4627600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:4626600-4627600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:4626600-4627600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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