Variant report

Variant	rs57288790
Chromosome Location	chr6:15452022-15452023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15451813..15454301-chr6:15454611..15456200,2	MCF-7	breast:
2	chr6:15248959..15251637-chr6:15450431..15452981,2	K562	blood:

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55646638	1.00[AMR][1000 genomes]
rs57418009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59986347	1.00[AMR][1000 genomes]
rs73724404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724408	1.00[AMR][1000 genomes]
rs73724409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724410	1.00[AMR][1000 genomes]
rs73724412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726543	1.00[AMR][1000 genomes]
rs73726555	1.00[AMR][1000 genomes]
rs73726557	1.00[AMR][1000 genomes]
rs73726560	1.00[AMR][1000 genomes]
rs73726561	1.00[AMR][1000 genomes]
rs73726565	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15417000-15452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:15435800-15453600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:15435800-15487600	Weak transcription	Colonic Mucosa	Colon
4	chr6:15439000-15458000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:15440000-15468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:15440600-15454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:15441600-15452200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:15441600-15452200	Weak transcription	Dnd41	blood
9	chr6:15441600-15453600	Weak transcription	HSMM	muscle
10	chr6:15444400-15452200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:15444400-15453600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:15444600-15452600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:15444600-15477400	Weak transcription	Hela-S3	cervix
14	chr6:15444800-15452200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:15444800-15452200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:15444800-15457200	Weak transcription	Fetal Heart	heart
17	chr6:15444800-15468800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:15445400-15457600	Weak transcription	Fetal Brain Male	brain
19	chr6:15445400-15458600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:15445400-15474000	Weak transcription	NH-A	brain
21	chr6:15445600-15452800	Weak transcription	HepG2	liver
22	chr6:15445600-15462600	Weak transcription	NHLF	lung
23	chr6:15445800-15452200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:15445800-15452200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:15445800-15460000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:15446000-15452200	Weak transcription	Fetal Lung	lung
27	chr6:15446000-15452200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:15446000-15452200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:15446000-15452400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:15446000-15452600	Weak transcription	Liver	Liver
31	chr6:15446000-15456200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:15446000-15459200	Weak transcription	Ovary	ovary
33	chr6:15446000-15462800	Weak transcription	HSMMtube	muscle
34	chr6:15446200-15452400	Weak transcription	Fetal Stomach	stomach
35	chr6:15446600-15453600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:15446600-15479800	Weak transcription	Gastric	stomach
37	chr6:15446800-15458600	Weak transcription	Right Ventricle	heart
38	chr6:15447800-15460400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:15448200-15452200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:15448200-15453600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:15448200-15454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:15448200-15455000	Weak transcription	Esophagus	oesophagus
43	chr6:15448200-15479800	Weak transcription	Pancreas	Pancrea
44	chr6:15448400-15452200	Weak transcription	Thymus	Thymus
45	chr6:15448400-15452400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:15448400-15452400	Weak transcription	Fetal Intestine Large	intestine
47	chr6:15448600-15453600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:15448800-15452200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr6:15448800-15452200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:15449000-15452600	Weak transcription	Brain Substantia Nigra	brain

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