Variant report

Variant	rs55644728
Chromosome Location	chr3:119542716-119542717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119539097..119541500-chr3:119541978..119544255,2	MCF-7	breast:
2	chr3:119542022..119546217-chr3:119548294..119552137,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10511395	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1054190	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1054191	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11914561	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11923782	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11927667	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11929668	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1381841	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17810302	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55658250	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55910624	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56114552	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6765004	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68194015	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73175828	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175830	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73175844	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175849	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175853	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175858	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175860	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175862	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175863	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175864	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175870	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175873	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175877	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175879	0.80[AMR][1000 genomes]
rs73175880	0.83[AMR][1000 genomes]
rs7645180	0.83[AMR][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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529400-119544000	Weak transcription	Right Atrium	heart
2	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:119529600-119543400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
5	chr3:119529800-119543600	Weak transcription	GM12878-XiMat	blood
6	chr3:119530200-119542800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:119532000-119543800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:119532400-119551000	Weak transcription	Right Ventricle	heart
9	chr3:119534000-119544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:119534800-119558600	Weak transcription	Colonic Mucosa	Colon
11	chr3:119535000-119544200	Weak transcription	HepG2	liver
12	chr3:119536000-119543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:119536200-119543000	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
15	chr3:119536400-119543200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:119536400-119543400	Weak transcription	HMEC	breast
17	chr3:119536400-119545600	Weak transcription	Left Ventricle	heart
18	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:119536600-119543400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:119536600-119543800	Weak transcription	HSMMtube	muscle
21	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:119536800-119543200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:119536800-119543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:119536800-119543600	Weak transcription	HSMM	muscle
26	chr3:119537000-119543000	Weak transcription	Adipose Nuclei	Adipose
27	chr3:119537000-119543200	Weak transcription	Fetal Intestine Large	intestine
28	chr3:119537000-119543600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:119537000-119544800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:119537000-119548200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:119537200-119544600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:119537200-119550600	Weak transcription	Fetal Heart	heart
33	chr3:119537400-119543400	Weak transcription	NHEK	skin
34	chr3:119537400-119543600	Weak transcription	Liver	Liver
35	chr3:119537600-119543000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:119537800-119544600	Weak transcription	Fetal Intestine Small	intestine
37	chr3:119538200-119543200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:119538200-119543200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:119538200-119543200	Weak transcription	Fetal Stomach	stomach
40	chr3:119538200-119543600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:119538200-119544800	Weak transcription	NHLF	lung
42	chr3:119538400-119543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:119538400-119543000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:119538400-119543800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr3:119538400-119545400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr3:119538600-119543400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:119538600-119550800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:119539000-119543200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:119539000-119550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:119539000-119576400	Weak transcription	Ovary	ovary

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