Variant report

Variant	rs56946436
Chromosome Location	chr6:43781361-43781362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43774068..43777618-chr6:43780998..43784406,4	MCF-7	breast:
2	chr6:43750787..43752856-chr6:43778703..43781379,2	MCF-7	breast:
3	chr6:43780050..43782009-chr6:43785484..43787376,2	MCF-7	breast:
4	chr6:43779816..43781818-chr6:43783570..43786315,2	MCF-7	breast:
5	chr6:43737388..43739113-chr6:43781279..43784155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112715	Chromatin interaction
ENSG00000272114	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16897100	1.00[AMR][1000 genomes]
rs73416583	1.00[AMR][1000 genomes]
rs73418203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9472129	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv1018626	chr6:43694649-43803732	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv428480	chr6:43764313-43929172	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43767000-43783400	Enhancers	Stomach Mucosa	stomach
2	chr6:43767800-43836000	Weak transcription	Right Atrium	heart
3	chr6:43773600-43781400	Weak transcription	Small Intestine	intestine
4	chr6:43774200-43783400	Enhancers	Fetal Intestine Large	intestine
5	chr6:43774200-43788600	Enhancers	Fetal Intestine Small	intestine
6	chr6:43777200-43781800	Enhancers	Pancreas	Pancrea
7	chr6:43777200-43783200	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:43777600-43782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:43777800-43785200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:43778400-43782000	Enhancers	HepG2	liver
11	chr6:43778400-43787400	Weak transcription	Fetal Heart	heart
12	chr6:43778400-43791000	Weak transcription	Fetal Lung	lung
13	chr6:43778600-43782400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:43778600-43787400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:43779400-43783200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:43779600-43782600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:43779600-43782600	Weak transcription	HMEC	breast
18	chr6:43779600-43784000	Weak transcription	K562	blood
19	chr6:43779600-43793000	Weak transcription	Gastric	stomach
20	chr6:43779800-43781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:43780400-43781600	Enhancers	Esophagus	oesophagus
22	chr6:43780400-43782400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:43780400-43783200	Enhancers	Lung	lung
24	chr6:43780400-43783200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr6:43780600-43781400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:43780600-43781800	Enhancers	Adipose Nuclei	Adipose
27	chr6:43780600-43781800	Enhancers	Liver	Liver
28	chr6:43780600-43781800	Enhancers	Fetal Thymus	thymus
29	chr6:43780600-43782000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr6:43780600-43782000	Enhancers	Colonic Mucosa	Colon
31	chr6:43780600-43782200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:43780600-43782400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:43780600-43783000	Enhancers	Placenta	Placenta
34	chr6:43780800-43781400	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:43780800-43781400	Enhancers	Thymus	Thymus
36	chr6:43780800-43781600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:43780800-43781600	Enhancers	HSMMtube	muscle
38	chr6:43780800-43781800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:43780800-43781800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:43780800-43782200	Enhancers	Primary T cells from cord blood	blood
41	chr6:43780800-43782800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:43781000-43781400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:43781000-43781400	Enhancers	Fetal Brain Male	brain
44	chr6:43781000-43781400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:43781000-43781600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:43781000-43781600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr6:43781000-43781800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:43781000-43782000	Enhancers	Fetal Stomach	stomach
49	chr6:43781000-43782400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr6:43781000-43782400	Enhancers	Monocytes-CD14+_RO01746	blood

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