Variant report

Variant	rs57648305
Chromosome Location	chr4:79562873-79562874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79549184..79553600-chr4:79560172..79565329,6	K562	blood:
2	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
3	chr4:79562740..79566241-chr4:79702324..79704926,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000200998	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10452151	1.00[AMR][1000 genomes]
rs55994157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56071306	1.00[AMR][1000 genomes]
rs56098630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57649400	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59055207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59700988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60681937	1.00[AMR][1000 genomes]
rs60950346	1.00[AMR][1000 genomes]
rs60998921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61075598	1.00[AMR][1000 genomes]
rs61238857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828029	1.00[AMR][1000 genomes]
rs73828034	1.00[AMR][1000 genomes]
rs73828038	1.00[AMR][1000 genomes]
rs73828045	1.00[AMR][1000 genomes]
rs73828046	1.00[AMR][1000 genomes]
rs73828057	1.00[AMR][1000 genomes]
rs73828059	1.00[AMR][1000 genomes]
rs73828064	1.00[AMR][1000 genomes]
rs73828065	1.00[AMR][1000 genomes]
rs73828066	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828067	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828073	1.00[AMR][1000 genomes]
rs73828074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828081	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828083	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828092	1.00[AMR][1000 genomes]
rs73828098	1.00[AMR][1000 genomes]
rs73828100	1.00[AMR][1000 genomes]
rs73828102	1.00[AMR][1000 genomes]
rs73830206	1.00[AMR][1000 genomes]
rs73830208	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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79550400-79564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:79553200-79563000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:79555600-79564000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:79555800-79566400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:79556000-79564000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:79557200-79568000	Enhancers	Primary B cells from cord blood	blood
8	chr4:79559800-79564000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:79560000-79564000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:79560200-79564000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:79560200-79565200	Weak transcription	Primary T cells from cord blood	blood
12	chr4:79560200-79565400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:79560200-79565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:79560400-79563000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:79560400-79563200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:79560400-79563200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:79560400-79563400	Enhancers	GM12878-XiMat	blood
18	chr4:79560400-79564000	Weak transcription	HMEC	breast
19	chr4:79560600-79564200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:79561000-79563200	Weak transcription	Fetal Thymus	thymus
21	chr4:79561000-79564000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:79561000-79565400	Weak transcription	NHEK	skin
23	chr4:79561600-79565000	Enhancers	Placenta	Placenta
24	chr4:79561600-79568000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:79561800-79566800	Enhancers	K562	blood
26	chr4:79562000-79564000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:79562000-79568000	Enhancers	Primary B cells from peripheral blood	blood
28	chr4:79562200-79564200	Weak transcription	NHDF-Ad	bronchial
29	chr4:79562400-79563600	Weak transcription	Brain Substantia Nigra	brain
30	chr4:79562400-79566400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:79562800-79564000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:79562800-79567600	Enhancers	Primary hematopoietic stem cells	blood

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