Variant report

Variant	rs9472129
Chromosome Location	chr6:43775695-43775696
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43774638..43776665-chr6:43792886..43794886,2	MCF-7	breast:
2	chr6:43773065..43775744-chr6:44024558..44028251,4	K562	blood:
3	chr6:43774068..43777618-chr6:43780998..43784406,4	MCF-7	breast:
4	chr6:43771796..43776749-chr6:43782613..43786047,7	MCF-7	breast:

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]
rs56946436	1.00[AMR][1000 genomes]
rs73416583	1.00[AMR][1000 genomes]
rs73418203	1.00[AMR][1000 genomes]
rs73418209	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	chr6:43764800-43776600	Enhancers	Placenta	Placenta
2	chr6:43765800-43775800	Enhancers	Pancreas	Pancrea
3	chr6:43767000-43783400	Enhancers	Stomach Mucosa	stomach
4	chr6:43767800-43836000	Weak transcription	Right Atrium	heart
5	chr6:43768200-43777200	Weak transcription	Left Ventricle	heart
6	chr6:43769600-43775800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:43770400-43775800	Enhancers	Hela-S3	cervix
8	chr6:43772800-43776200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr6:43773400-43775800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:43773600-43775800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:43773600-43775800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:43773600-43776000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:43773600-43776200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:43773600-43781400	Weak transcription	Small Intestine	intestine
15	chr6:43773800-43775800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:43773800-43775800	Enhancers	Adipose Nuclei	Adipose
17	chr6:43773800-43776200	Enhancers	NHEK	skin
18	chr6:43774000-43776000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:43774200-43775800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:43774200-43775800	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:43774200-43776000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:43774200-43776200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:43774200-43783400	Enhancers	Fetal Intestine Large	intestine
24	chr6:43774200-43788600	Enhancers	Fetal Intestine Small	intestine
25	chr6:43774400-43775800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:43774400-43776200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:43774400-43776200	Enhancers	Fetal Muscle Leg	muscle
28	chr6:43774600-43775800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:43774600-43775800	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:43774600-43775800	Enhancers	Fetal Muscle Trunk	muscle
31	chr6:43774600-43776000	Enhancers	Liver	Liver
32	chr6:43774600-43777800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:43774800-43775800	Enhancers	Colonic Mucosa	Colon
34	chr6:43774800-43779000	Weak transcription	Lung	lung
35	chr6:43775000-43775800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:43775000-43775800	Enhancers	HSMMtube	muscle
37	chr6:43775000-43776000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr6:43775200-43775800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:43775200-43775800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr6:43775200-43775800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr6:43775200-43776000	Flanking Active TSS	HepG2	liver
42	chr6:43775200-43776000	Enhancers	HSMM	muscle
43	chr6:43775200-43776200	Enhancers	Fetal Lung	lung
44	chr6:43775400-43775800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:43775400-43777200	Weak transcription	Gastric	stomach
46	chr6:43775400-43777400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:43775400-43777400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:43775400-43779000	Weak transcription	Spleen	Spleen
49	chr6:43775400-43779400	Weak transcription	Esophagus	oesophagus
50	chr6:43775400-43780600	Weak transcription	Fetal Thymus	thymus

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