Variant report

Variant	rs72948104
Chromosome Location	chr11:36318762-36318763
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	STAT3	chr11:36318449-36319182	MCF10A-Er-Src	breast:	n/a	chr11:36318988-36318996 chr11:36318967-36318975 chr11:36318947-36318955 chr11:36318871-36318879
2	USF2	chr11:36318513-36319440	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr11:36318568-36319299	IMR90	lung:	n/a	n/a
4	CHD2	chr11:36318347-36319201	Hela-S3	cervix:	n/a	n/a
5	RCOR1	chr11:36318188-36319279	Hela-S3	cervix:	n/a	n/a
6	TBP	chr11:36318250-36319203	Hela-S3	cervix:	n/a	n/a
7	MYC	chr11:36318376-36319178	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr11:36318231-36319429	Hela-S3	cervix:	n/a	n/a
9	TCF7L2	chr11:36318331-36319517	Hela-S3	cervix:	n/a	n/a
10	JUND	chr11:36318166-36319288	Hela-S3	cervix:	n/a	n/a
11	EP300	chr11:36318222-36319247	Hela-S3	cervix:	n/a	chr11:36318761-36318777
12	MAX	chr11:36318396-36319160	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr11:36318219-36319227	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr11:36318310-36319257	Hela-S3	cervix:	n/a	n/a
15	GTF2F1	chr11:36318301-36319386	Hela-S3	cervix:	n/a	n/a
16	JUN	chr11:36318314-36319305	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr11:36318171-36319770	Hela-S3	cervix:	n/a	chr11:36318945-36318956 chr11:36318986-36318997
18	SMC3	chr11:36318276-36319174	Hela-S3	cervix:	n/a	chr11:36318770-36318778
19	STAT3	chr11:36318260-36319233	Hela-S3	cervix:	n/a	chr11:36318988-36318996 chr11:36318967-36318975 chr11:36318947-36318955 chr11:36318871-36318879
20	FOS	chr11:36318426-36319205	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr11:36318555-36319189	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr11:36318588-36319191	A549	lung:	n/a	chr11:36318945-36318956 chr11:36318986-36318997
23	STAT3	chr11:36318687-36319189	MCF10A-Er-Src	breast:	n/a	chr11:36318988-36318996 chr11:36318967-36318975 chr11:36318947-36318955 chr11:36318871-36318879
24	FOS	chr11:36318623-36319209	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr11:36318249-36319256	Hela-S3	cervix:	n/a	n/a
26	MAFK	chr11:36318282-36319520	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:36318537-36319427	MCF10A-Er-Src	breast:	n/a	n/a
28	PRDM1	chr11:36318264-36319585	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PRR5L	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10768205	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11033540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4534558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4543964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948105	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36311400-36322600	Weak transcription	Spleen	Spleen
2	chr11:36311400-36331400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:36311600-36325800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:36311800-36321800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:36314200-36321200	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:36316400-36320400	Enhancers	Adipose Nuclei	Adipose
7	chr11:36316800-36319000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:36317600-36319400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr11:36317600-36319600	Active TSS	Brain Angular Gyrus	brain
10	chr11:36317600-36319600	Active TSS	Brain Cingulate Gyrus	brain
11	chr11:36317600-36320600	Enhancers	Fetal Intestine Small	intestine
12	chr11:36317600-36320800	Enhancers	Fetal Intestine Large	intestine
13	chr11:36317800-36319000	Active TSS	Brain Hippocampus Middle	brain
14	chr11:36317800-36319200	Active TSS	Brain Anterior Caudate	brain
15	chr11:36317800-36319200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:36317800-36319400	Enhancers	Colonic Mucosa	Colon
17	chr11:36317800-36319800	Active TSS	Brain Substantia Nigra	brain
18	chr11:36318000-36319000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:36318000-36319600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:36318000-36321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:36318200-36318800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:36318200-36318800	Enhancers	NHLF	lung
23	chr11:36318200-36319200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:36318200-36319200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:36318200-36319400	Enhancers	Osteobl	bone
26	chr11:36318200-36319600	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:36318200-36322400	Weak transcription	Placenta	Placenta
28	chr11:36318400-36318800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:36318400-36318800	Enhancers	Fetal Lung	lung
30	chr11:36318400-36319400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:36318400-36319600	Flanking Active TSS	Hela-S3	cervix
32	chr11:36318400-36319800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:36318400-36319800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:36318600-36319200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:36318600-36319200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:36318600-36319400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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