Variant report

Variant	rs56318353
Chromosome Location	chr6:131504401-131504402
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	chr6:131504234..131504890-chr8:67976530..67977471,2	MCF-7	breast:
2	chr6:131503963..131504691-chr6:131855024..131855989,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1190788	1.00[ASN][1000 genomes]
rs1190794	1.00[ASN][1000 genomes]
rs1190796	1.00[ASN][1000 genomes]
rs1190799	1.00[ASN][1000 genomes]
rs1190800	1.00[ASN][1000 genomes]
rs1190801	1.00[ASN][1000 genomes]
rs1190805	0.91[ASN][1000 genomes]
rs1190806	0.91[ASN][1000 genomes]
rs1209159	1.00[ASN][1000 genomes]
rs1317667	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1570348	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1729549	1.00[ASN][1000 genomes]
rs1729558	1.00[ASN][1000 genomes]
rs1746470	1.00[ASN][1000 genomes]
rs1746471	1.00[ASN][1000 genomes]
rs1746473	0.91[ASN][1000 genomes]
rs1746474	1.00[ASN][1000 genomes]
rs17573187	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17651753	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17787964	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777487	0.85[EUR][1000 genomes]
rs3777493	0.85[EUR][1000 genomes]
rs3903759	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56189731	0.83[EUR][1000 genomes]
rs6937607	0.83[EUR][1000 genomes]
rs73631985	0.81[EUR][1000 genomes]
rs73634710	0.83[EUR][1000 genomes]
rs7743894	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7754007	0.83[EUR][1000 genomes]
rs9492861	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9492874	0.83[ASN][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131457600-131505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:131457600-131520800	Weak transcription	Right Ventricle	heart
3	chr6:131458000-131505600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:131458000-131505800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:131458200-131505200	Weak transcription	Fetal Lung	lung
6	chr6:131458200-131513400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:131483000-131506200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:131484400-131509200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:131485400-131509600	Weak transcription	Small Intestine	intestine
10	chr6:131485600-131514000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:131486000-131505000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:131486000-131505600	Weak transcription	HepG2	liver
13	chr6:131486200-131505800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:131486400-131504600	Weak transcription	Fetal Intestine Small	intestine
15	chr6:131486400-131505000	Weak transcription	Placenta	Placenta
16	chr6:131487000-131505200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:131487000-131512800	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:131488200-131534800	Weak transcription	Gastric	stomach
19	chr6:131489000-131513000	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:131491200-131508000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:131493800-131506600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:131494200-131505200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:131494800-131514000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:131496600-131507200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:131497400-131505200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:131499200-131506000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:131499600-131504800	Weak transcription	Liver	Liver
28	chr6:131499600-131504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:131500000-131505600	Weak transcription	Esophagus	oesophagus
30	chr6:131500200-131504800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:131500200-131505600	Weak transcription	Ovary	ovary
32	chr6:131501200-131504800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:131501400-131504800	Weak transcription	Aorta	Aorta
34	chr6:131501400-131504800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:131501400-131505000	Weak transcription	Lung	lung
36	chr6:131501400-131505400	Weak transcription	Left Ventricle	heart
37	chr6:131503200-131505000	Weak transcription	Adipose Nuclei	Adipose
38	chr6:131503600-131504600	Active TSS	NHDF-Ad	bronchial
39	chr6:131503600-131505200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:131504000-131505000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:131504200-131504600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:131504200-131504600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:131504200-131504600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:131504200-131504600	Enhancers	Primary B cells from peripheral blood	blood
45	chr6:131504200-131504600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr6:131504200-131504600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:131504200-131504600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:131504200-131504600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr6:131504200-131504600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:131504200-131504600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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