Variant report

Variant	rs1321810
Chromosome Location	chr6:117813552-117813553
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117802434..117806380-chr6:117812352..117817630,8	MCF-7	breast:
2	chr6:117813535..117815634-chr6:117852194..117854765,2	K562	blood:
3	chr6:117813405..117815886-chr6:117817206..117818721,2	MCF-7	breast:
4	chr6:117808865..117811811-chr6:117813306..117815684,3	MCF-7	breast:
5	chr6:117803465..117806311-chr6:117811900..117814543,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1123836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755719	0.88[EUR][1000 genomes]
rs11755781	0.88[EUR][1000 genomes]
rs11756993	0.88[EUR][1000 genomes]
rs11759243	0.88[EUR][1000 genomes]
rs12662107	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665822	0.88[EUR][1000 genomes]
rs1321808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17079201	0.91[EUR][1000 genomes]
rs17079205	0.91[EUR][1000 genomes]
rs17165	0.91[EUR][1000 genomes]
rs17573446	0.96[EUR][1000 genomes]
rs17574179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17575094	0.88[EUR][1000 genomes]
rs17635492	0.96[EUR][1000 genomes]
rs17636252	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17636431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7453460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117814800	Weak transcription	Left Ventricle	heart
2	chr6:117805200-117816000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:117805200-117819400	Weak transcription	Small Intestine	intestine
4	chr6:117805200-117825600	Weak transcription	Lung	lung
5	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
6	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
7	chr6:117805400-117819400	Weak transcription	Aorta	Aorta
8	chr6:117805600-117814800	Weak transcription	K562	blood
9	chr6:117805600-117818800	Weak transcription	Fetal Kidney	kidney
10	chr6:117805600-117819400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:117806200-117815000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:117806200-117815400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:117806200-117816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:117806200-117819600	Weak transcription	Psoas Muscle	Psoas
17	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
19	chr6:117806600-117817400	Weak transcription	HSMMtube	muscle
20	chr6:117806800-117815600	Weak transcription	Stomach Mucosa	stomach
21	chr6:117807000-117814800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:117807000-117815200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:117807600-117814000	Weak transcription	Liver	Liver
24	chr6:117808600-117813600	Weak transcription	Fetal Intestine Large	intestine
25	chr6:117808600-117814400	Weak transcription	Fetal Lung	lung
26	chr6:117808600-117819400	Weak transcription	Spleen	Spleen
27	chr6:117808600-117819600	Weak transcription	Fetal Stomach	stomach
28	chr6:117808800-117824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:117809400-117814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:117810400-117815800	Weak transcription	Fetal Intestine Small	intestine
32	chr6:117810600-117813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:117810600-117813800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:117810600-117814800	Weak transcription	Gastric	stomach
35	chr6:117810600-117815400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:117811600-117815400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:117812200-117814000	Flanking Active TSS	HUVEC	blood vessel
38	chr6:117812200-117815400	Enhancers	NHDF-Ad	bronchial
39	chr6:117812400-117814200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:117812400-117817400	Enhancers	HMEC	breast
41	chr6:117812400-117817800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:117812600-117813600	Active TSS	A549	lung
43	chr6:117812600-117813800	Enhancers	HSMM	muscle
44	chr6:117812600-117813800	Enhancers	NHEK	skin
45	chr6:117812800-117815200	Enhancers	NHLF	lung
46	chr6:117812800-117820000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:117813000-117813600	Flanking Active TSS	Osteobl	bone
48	chr6:117813000-117814200	Enhancers	HepG2	liver
49	chr6:117813000-117817400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:117813400-117813600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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