Variant report

Variant	rs73850321
Chromosome Location	chr4:129306211-129306212
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128981232..128984176-chr4:129305294..129307414,2	MCF-7	breast:
2	chr4:129299568..129302114-chr4:129305690..129309933,3	MCF-7	breast:
3	chr4:129305151..129309192-chr4:129309393..129314281,5	K562	blood:
4	chr4:129305678..129308286-chr4:129449274..129450923,2	MCF-7	breast:
5	chr4:129206931..129210316-chr4:129305166..129310955,10	MCF-7	breast:
6	chr4:129304978..129307825-chr4:129445122..129446888,2	MCF-7	breast:
7	chr4:129299802..129301379-chr4:129304409..129306421,2	K562	blood:
8	chr4:129277469..129279928-chr4:129306182..129308893,2	MCF-7	breast:
9	chr4:129242195..129245805-chr4:129305506..129308663,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11940440	1.00[AMR][1000 genomes]
rs11942008	1.00[AMR][1000 genomes]
rs11942823	1.00[AMR][1000 genomes]
rs11944086	1.00[AMR][1000 genomes]
rs11947006	1.00[AMR][1000 genomes]
rs17013071	1.00[AMR][1000 genomes]
rs28522396	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28633478	0.92[AFR][1000 genomes]
rs34883691	1.00[AMR][1000 genomes]
rs56095603	1.00[AMR][1000 genomes]
rs56317429	1.00[AMR][1000 genomes]
rs59874564	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850310	1.00[AMR][1000 genomes]
rs73850312	1.00[AMR][1000 genomes]
rs73850313	1.00[AMR][1000 genomes]
rs73850314	1.00[AMR][1000 genomes]
rs73850315	1.00[AMR][1000 genomes]
rs73850318	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 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	chr4:129292800-129306600	Weak transcription	Psoas Muscle	Psoas
2	chr4:129298600-129307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:129298800-129307400	Weak transcription	Fetal Intestine Small	intestine
4	chr4:129299000-129307400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:129300000-129306400	Weak transcription	Aorta	Aorta
6	chr4:129301600-129306400	Weak transcription	Hela-S3	cervix
7	chr4:129301800-129306400	Weak transcription	Adipose Nuclei	Adipose
8	chr4:129301800-129306400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:129301800-129314000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:129302000-129306400	Weak transcription	HMEC	breast
11	chr4:129303800-129306400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:129303800-129306400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:129304000-129306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:129304000-129306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:129304000-129306600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:129304000-129306600	Weak transcription	NHEK	skin
17	chr4:129304200-129310200	Enhancers	Placenta	Placenta
18	chr4:129304400-129310600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:129304600-129309600	Enhancers	HSMM	muscle
20	chr4:129304600-129309800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:129304600-129309800	Enhancers	HSMMtube	muscle
22	chr4:129305000-129306800	Enhancers	NHDF-Ad	bronchial
23	chr4:129305000-129307200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:129305000-129307600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:129305000-129309600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:129305000-129309600	Enhancers	NH-A	brain
27	chr4:129305000-129309800	Enhancers	Osteobl	bone
28	chr4:129305200-129306400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:129305200-129306600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:129305200-129306800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:129305200-129306800	Enhancers	A549	lung
32	chr4:129305200-129307400	Enhancers	Rectal Smooth Muscle	rectum
33	chr4:129305200-129308000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:129305200-129308800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:129305200-129314400	Weak transcription	Small Intestine	intestine
36	chr4:129305400-129306400	Enhancers	Colon Smooth Muscle	Colon
37	chr4:129305400-129307600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:129305400-129310200	Enhancers	Ovary	ovary
39	chr4:129305600-129306600	Enhancers	Stomach Smooth Muscle	stomach
40	chr4:129305600-129308000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:129305600-129308000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:129305600-129309200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:129305800-129306600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:129305800-129307200	Weak transcription	Fetal Heart	heart
45	chr4:129305800-129307400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr4:129305800-129307600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:129305800-129307600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:129305800-129307800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:129305800-129308800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:129305800-129309600	Enhancers	NHLF	lung

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