Variant report

Variant	rs57654585
Chromosome Location	chr4:129245676-129245677
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129207563..129211029-chr4:129243984..129248611,6	MCF-7	breast:
2	chr4:129243843..129245732-chr4:129300770..129303372,2	MCF-7	breast:
3	chr4:129242195..129245805-chr4:129305506..129308663,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55964669	1.00[AMR][1000 genomes]
rs58676618	1.00[AMR][1000 genomes]
rs73848751	1.00[AMR][1000 genomes]
rs73848781	1.00[AMR][1000 genomes]
rs73848783	1.00[AMR][1000 genomes]
rs73848799	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850332	0.86[AFR][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	chr4:129210200-129245800	Weak transcription	Esophagus	oesophagus
2	chr4:129210400-129246400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:129210400-129247600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:129210600-129249800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:129211000-129246400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:129211200-129248200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:129211200-129254400	Weak transcription	Brain Substantia Nigra	brain
8	chr4:129221600-129247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:129222200-129264200	Weak transcription	Fetal Thymus	thymus
10	chr4:129225200-129252200	Weak transcription	Spleen	Spleen
11	chr4:129230000-129246600	Weak transcription	Brain Angular Gyrus	brain
12	chr4:129231600-129251200	Weak transcription	Aorta	Aorta
13	chr4:129231800-129251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:129231800-129252600	Weak transcription	Lung	lung
15	chr4:129231800-129255000	Weak transcription	Left Ventricle	heart
16	chr4:129231800-129261000	Weak transcription	Adipose Nuclei	Adipose
17	chr4:129233000-129247800	Weak transcription	Pancreas	Pancrea
18	chr4:129233600-129245800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:129233600-129251600	Weak transcription	Fetal Heart	heart
20	chr4:129234400-129246400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:129241600-129249200	Weak transcription	Liver	Liver
22	chr4:129242200-129246200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:129242400-129245800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:129242400-129249400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:129242600-129251200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:129242600-129254800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:129243400-129249000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:129243400-129249200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:129243400-129249400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:129243600-129248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:129243600-129249000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:129243800-129246400	Strong transcription	Primary T cells from cord blood	blood
33	chr4:129243800-129249400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:129244000-129247800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:129244400-129245800	Enhancers	Hela-S3	cervix
36	chr4:129244400-129246400	Weak transcription	Fetal Brain Female	brain
37	chr4:129244400-129248200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:129244600-129246600	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:129244800-129246400	Weak transcription	Brain Germinal Matrix	brain
40	chr4:129244800-129252800	Weak transcription	HSMMtube	muscle
41	chr4:129244800-129259200	Weak transcription	Stomach Mucosa	stomach
42	chr4:129245000-129246200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:129245000-129246600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:129245000-129246600	Weak transcription	Fetal Intestine Large	intestine
45	chr4:129245000-129247800	Weak transcription	Ovary	ovary
46	chr4:129245000-129248600	Weak transcription	K562	blood
47	chr4:129245000-129249000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:129245000-129249200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:129245000-129252000	Weak transcription	Gastric	stomach
50	chr4:129245000-129253400	Weak transcription	NH-A	brain

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