Variant report

Variant	rs7947973
Chromosome Location	chr11:72118847-72118848
allele	C/G
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	chr11:72118777-72118862	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72113681..72116356-chr11:72118762..72120337,2	K562	blood:
2	chr11:72117456..72119333-chr11:72145059..72147392,2	K562	blood:
3	chr11:72113346..72115251-chr11:72116984..72119752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256403	TF binding region
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55888146	0.84[AMR][1000 genomes]
rs55970551	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59755180	1.00[AMR][1000 genomes]
rs60127404	1.00[EUR][1000 genomes]
rs7115684	1.00[EUR][1000 genomes]
rs7122350	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73532651	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532653	1.00[EUR][1000 genomes]
rs73532655	1.00[EUR][1000 genomes]
rs73532669	0.91[EUR][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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72090400-72123000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:72091600-72119200	Weak transcription	Thymus	Thymus
3	chr11:72099200-72122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:72099600-72125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:72099600-72125000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:72103400-72120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:72105000-72122200	Weak transcription	GM12878-XiMat	blood
8	chr11:72105400-72124800	Weak transcription	A549	lung
9	chr11:72106200-72121200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:72106200-72121800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:72106800-72136800	Weak transcription	Esophagus	oesophagus
12	chr11:72106800-72136800	Weak transcription	NHLF	lung
13	chr11:72107000-72120000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:72107000-72121200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:72107200-72119000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:72107200-72119800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:72107200-72122400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:72107400-72122600	Weak transcription	Brain Germinal Matrix	brain
19	chr11:72107600-72119000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:72107600-72121200	Weak transcription	Brain Substantia Nigra	brain
21	chr11:72107600-72122600	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:72107600-72122800	Weak transcription	Fetal Brain Female	brain
23	chr11:72107600-72122800	Weak transcription	Right Ventricle	heart
24	chr11:72107600-72125000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:72107800-72122000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:72107800-72125000	Weak transcription	Fetal Heart	heart
27	chr11:72108000-72122600	Weak transcription	Fetal Lung	lung
28	chr11:72108600-72123600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:72109600-72121200	Weak transcription	Fetal Kidney	kidney
30	chr11:72109600-72137000	Weak transcription	Osteobl	bone
31	chr11:72109800-72139200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:72110000-72134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:72110600-72139000	Weak transcription	Colonic Mucosa	Colon
34	chr11:72111800-72138400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:72112000-72119800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:72112000-72122200	Weak transcription	Fetal Intestine Large	intestine
37	chr11:72112000-72124800	Weak transcription	HSMMtube	muscle
38	chr11:72113000-72119800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:72113000-72125000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:72113000-72125000	Weak transcription	HSMM	muscle
41	chr11:72113200-72121800	Weak transcription	K562	blood
42	chr11:72113200-72122000	Weak transcription	Fetal Intestine Small	intestine
43	chr11:72113200-72124800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:72113400-72122800	Weak transcription	Lung	lung
45	chr11:72113600-72122200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:72113800-72119000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:72114000-72119800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:72114000-72119800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:72114000-72121200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:72114000-72121400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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