Variant report

Variant	rs4757510
Chromosome Location	chr11:17400287-17400288
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	POLR2A	chr11:17400237-17400452	HepG2	liver:	n/a	n/a
2	CBX3	chr11:17400027-17400343	K562	blood:	n/a	n/a
3	POLR2A	chr11:17400201-17401965	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:17399194-17402032	K562	blood:	n/a	n/a
5	ZNF143	chr11:17400072-17400299	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17399571..17401205-chr11:17403779..17406500,2	K562	blood:
2	chr11:17392236..17395328-chr11:17396635..17401653,4	K562	blood:

Variant related genes	Relation type
ENSG00000260196	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2355016	0.88[ASN][1000 genomes]
rs7118875	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17382400-17401200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17394200-17401600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:17394200-17401800	Strong transcription	HepG2	liver
4	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:17394400-17400800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:17394400-17402600	Weak transcription	HUVEC	blood vessel
7	chr11:17394400-17403600	Weak transcription	NHLF	lung
8	chr11:17394400-17405000	Weak transcription	Brain Angular Gyrus	brain
9	chr11:17394400-17410200	Weak transcription	A549	lung
10	chr11:17394600-17401600	Strong transcription	K562	blood
11	chr11:17395000-17401200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:17395000-17402600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:17395200-17402400	Weak transcription	NHDF-Ad	bronchial
14	chr11:17395200-17402600	Weak transcription	Osteobl	bone
15	chr11:17395200-17405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:17395200-17405800	Weak transcription	Gastric	stomach
17	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
18	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
19	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:17395800-17403600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:17395800-17405200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:17395800-17405400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:17395800-17405400	Weak transcription	Left Ventricle	heart
25	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:17396400-17402000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:17396600-17404600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:17397000-17401200	Strong transcription	Brain Anterior Caudate	brain
31	chr11:17397200-17404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:17397200-17407800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:17397400-17401000	Strong transcription	Aorta	Aorta
34	chr11:17397400-17402800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:17398400-17405400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
38	chr11:17399000-17400600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:17399000-17401600	ZNF genes & repeats	Dnd41	blood
40	chr11:17399000-17404600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr11:17399200-17400600	ZNF genes & repeats	NHEK	skin
42	chr11:17399200-17401200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:17399200-17404200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:17399400-17400800	ZNF genes & repeats	Fetal Brain Female	brain
45	chr11:17399600-17400600	ZNF genes & repeats	HMEC	breast
46	chr11:17399600-17401000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:17399600-17401200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:17399800-17401600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:17400000-17400400	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr11:17400000-17400600	ZNF genes & repeats	Brain Germinal Matrix	brain

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