Variant report

Variant	rs55689306
Chromosome Location	chr4:148768232-148768233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148761236..148763428-chr4:148766244..148769125,3	MCF-7	breast:
2	chr4:148766756..148768552-chr4:148771059..148773482,2	K562	blood:
3	chr4:148757333..148759139-chr4:148766122..148768312,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10010996	1.00[EUR][1000 genomes]
rs10012122	1.00[EUR][1000 genomes]
rs10213616	1.00[EUR][1000 genomes]
rs1436492	1.00[EUR][1000 genomes]
rs17023827	1.00[EUR][1000 genomes]
rs17023950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17024108	1.00[EUR][1000 genomes]
rs17024163	1.00[EUR][1000 genomes]
rs28371967	1.00[EUR][1000 genomes]
rs41435251	1.00[EUR][1000 genomes]
rs56742479	1.00[EUR][1000 genomes]
rs58776118	1.00[EUR][1000 genomes]
rs59129054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59222333	1.00[EUR][1000 genomes]
rs59845678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6813344	1.00[EUR][1000 genomes]
rs6815620	1.00[EUR][1000 genomes]
rs6848211	1.00[EUR][1000 genomes]
rs72957764	1.00[EUR][1000 genomes]
rs72957767	1.00[EUR][1000 genomes]
rs72957792	1.00[EUR][1000 genomes]
rs731989	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853711	1.00[EUR][1000 genomes]
rs7661589	1.00[EUR][1000 genomes]
rs7663257	1.00[EUR][1000 genomes]
rs7699281	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
2	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:148751400-148776000	Weak transcription	Fetal Stomach	stomach
4	chr4:148753400-148782000	Weak transcription	Gastric	stomach
5	chr4:148754400-148769000	Weak transcription	NHLF	lung
6	chr4:148755600-148773200	Weak transcription	Esophagus	oesophagus
7	chr4:148756800-148777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148762400-148770000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:148762400-148771000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:148762800-148775400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:148763200-148771000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:148763800-148776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:148764400-148770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:148764400-148786000	Weak transcription	NH-A	brain
16	chr4:148764400-148787000	Weak transcription	NHEK	skin
17	chr4:148764600-148768400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:148764600-148768800	Weak transcription	Osteobl	bone
19	chr4:148764600-148771200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:148764600-148771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:148764600-148771400	Weak transcription	Aorta	Aorta
22	chr4:148764600-148772400	Weak transcription	Brain Angular Gyrus	brain
23	chr4:148764600-148775800	Weak transcription	HSMMtube	muscle
24	chr4:148764600-148776200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:148764600-148787800	Weak transcription	HMEC	breast
26	chr4:148765000-148771400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:148765200-148768600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:148765600-148768800	Enhancers	Colon Smooth Muscle	Colon
29	chr4:148765800-148769000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:148766000-148770200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:148766200-148769400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:148766200-148782000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:148766400-148769200	Weak transcription	Right Ventricle	heart
34	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:148766600-148771400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:148766800-148768600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr4:148766800-148770000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:148767200-148768400	Enhancers	Primary T cells from cord blood	blood
40	chr4:148767200-148769000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:148767200-148769000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:148767200-148769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:148767200-148773200	Strong transcription	HSMM	muscle
44	chr4:148767400-148768800	Enhancers	Psoas Muscle	Psoas
45	chr4:148767400-148769800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:148767600-148768800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:148767600-148770200	Enhancers	Fetal Lung	lung
48	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:148767800-148768400	Weak transcription	Left Ventricle	heart
50	chr4:148767800-148769000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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