Variant report

Variant	rs58024914
Chromosome Location	chr11:9789517-9789518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9780866..9785648-chr11:9787509..9790769,4	K562	blood:
2	chr11:9780268..9785648-chr11:9787366..9790238,5	K562	blood:

Variant related genes	Relation type
ENSG00000245522	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11821145	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822070	1.00[AMR][1000 genomes]
rs11823024	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823620	1.00[AMR][1000 genomes]
rs11824133	1.00[AMR][1000 genomes]
rs11824944	1.00[AMR][1000 genomes]
rs11826573	1.00[AMR][1000 genomes]
rs55805230	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56004091	1.00[AMR][1000 genomes]
rs57233768	1.00[AMR][1000 genomes]
rs57297566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57735272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57948595	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58717942	1.00[AMR][1000 genomes]
rs58982478	1.00[AMR][1000 genomes]
rs73402415	1.00[AMR][1000 genomes]
rs73412193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414129	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416199	1.00[AMR][1000 genomes]
rs73418575	1.00[AMR][1000 genomes]
rs73418583	1.00[AMR][1000 genomes]
rs73418601	1.00[AMR][1000 genomes]
rs73420636	1.00[AMR][1000 genomes]
rs73420638	1.00[AMR][1000 genomes]
rs73420639	1.00[AMR][1000 genomes]
rs73420640	1.00[AMR][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
2	chr11:9780800-9794200	Enhancers	Fetal Muscle Leg	muscle
3	chr11:9781400-9795200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:9781400-9800800	Weak transcription	Fetal Brain Female	brain
5	chr11:9781600-9798200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9781600-9801000	Weak transcription	Primary T cells from cord blood	blood
7	chr11:9781600-9809000	Weak transcription	Fetal Brain Male	brain
8	chr11:9781800-9790800	Enhancers	NHDF-Ad	bronchial
9	chr11:9781800-9799200	Weak transcription	Primary B cells from cord blood	blood
10	chr11:9781800-9799200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:9781800-9801200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:9781800-9801600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr11:9782000-9798000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:9782200-9796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:9782400-9791600	Weak transcription	A549	lung
16	chr11:9782400-9799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:9782600-9797800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:9784000-9797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:9784000-9801200	Weak transcription	Gastric	stomach
20	chr11:9784400-9797000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:9787000-9790000	Enhancers	HSMM	muscle
22	chr11:9787400-9790800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:9787400-9792600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:9787400-9796200	Weak transcription	Esophagus	oesophagus
25	chr11:9787400-9796200	Weak transcription	Psoas Muscle	Psoas
26	chr11:9787400-9796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:9787400-9799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:9787400-9801000	Weak transcription	Aorta	Aorta
29	chr11:9787600-9792400	Weak transcription	Fetal Intestine Small	intestine
30	chr11:9787600-9796000	Weak transcription	Hela-S3	cervix
31	chr11:9787600-9797600	Weak transcription	Fetal Intestine Large	intestine
32	chr11:9787600-9799200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:9787600-9799200	Weak transcription	Fetal Lung	lung
34	chr11:9787800-9789800	Weak transcription	Adipose Nuclei	Adipose
35	chr11:9787800-9795800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:9787800-9796200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:9787800-9801000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:9787800-9805200	Weak transcription	Colonic Mucosa	Colon
39	chr11:9788000-9791200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:9788000-9792600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:9788000-9796000	Weak transcription	Ovary	ovary
42	chr11:9788000-9796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:9788000-9796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:9788000-9796200	Weak transcription	Right Atrium	heart
45	chr11:9788000-9796600	Weak transcription	Pancreas	Pancrea
46	chr11:9788000-9801000	Weak transcription	Lung	lung
47	chr11:9788200-9789600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:9788200-9790000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:9788200-9795400	Weak transcription	Osteobl	bone
50	chr11:9788200-9796200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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