Variant report

Variant	rs73213638
Chromosome Location	chr4:6772561-6772562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6771876..6773951-chr4:6775064..6776789,2	MCF-7	breast:
2	chr4:6722286..6724198-chr4:6771696..6774583,2	K562	blood:
3	chr4:6769673..6773832-chr4:6782147..6785150,6	MCF-7	breast:
4	chr4:6758944..6760940-chr4:6772466..6774263,2	MCF-7	breast:
5	chr4:6771636..6774569-chr4:6777418..6780380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170871	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60588582	0.92[EUR][1000 genomes]
rs73213629	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73213630	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73213634	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73213636	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73213637	1.00[AMR][1000 genomes];1.00[EUR][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	nsv461190	chr4:6755324-6833794	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv593525	chr4:6755324-6833794	Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1010710	chr4:6771456-6810920	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6763600-6773000	Enhancers	Fetal Thymus	thymus
2	chr4:6765600-6781400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:6765800-6773800	Weak transcription	Hela-S3	cervix
4	chr4:6767600-6773200	Enhancers	Fetal Intestine Small	intestine
5	chr4:6767800-6776200	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:6768800-6772800	Enhancers	Fetal Intestine Large	intestine
7	chr4:6769600-6772800	Weak transcription	Fetal Heart	heart
8	chr4:6769800-6772800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr4:6769800-6775800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:6770200-6777400	Enhancers	Placenta	Placenta
11	chr4:6770400-6772600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:6770400-6772600	Weak transcription	Adipose Nuclei	Adipose
13	chr4:6770400-6772600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:6770600-6772600	Weak transcription	Pancreas	Pancrea
15	chr4:6770600-6772800	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:6770600-6774000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:6770600-6774200	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:6770600-6774400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:6770600-6781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:6770800-6772600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:6770800-6772600	Weak transcription	NHDF-Ad	bronchial
22	chr4:6770800-6773400	Weak transcription	Aorta	Aorta
23	chr4:6770800-6773400	Enhancers	Colonic Mucosa	Colon
24	chr4:6770800-6773800	Weak transcription	Right Atrium	heart
25	chr4:6770800-6774200	Weak transcription	A549	lung
26	chr4:6770800-6774600	Weak transcription	Brain Substantia Nigra	brain
27	chr4:6770800-6778800	Weak transcription	K562	blood
28	chr4:6770800-6779400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:6771200-6775400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:6771200-6775600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr4:6771400-6773000	Enhancers	HepG2	liver
32	chr4:6771400-6775600	Weak transcription	Small Intestine	intestine
33	chr4:6771800-6775800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:6771800-6776800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:6771800-6778600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:6771800-6778600	Weak transcription	Spleen	Spleen
37	chr4:6772000-6775200	Enhancers	Left Ventricle	heart
38	chr4:6772000-6775400	Enhancers	HSMM	muscle
39	chr4:6772000-6777000	Weak transcription	Primary T cells from cord blood	blood
40	chr4:6772000-6778800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:6772200-6772600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:6772200-6773000	Enhancers	Right Ventricle	heart
43	chr4:6772200-6775400	Enhancers	HSMMtube	muscle
44	chr4:6772200-6775800	Enhancers	Esophagus	oesophagus
45	chr4:6772400-6772800	Enhancers	Lung	lung
46	chr4:6772400-6772800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr4:6772400-6773000	Enhancers	Ovary	ovary
48	chr4:6772400-6773400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr4:6772400-6773400	Enhancers	Osteobl	bone
50	chr4:6772400-6773600	Enhancers	Muscle Satellite Cultured Cells	--

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