Variant report

Variant	rs10223503
Chromosome Location	chr6:119450948-119450949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119254330..119256221-chr6:119450297..119453095,2	K562	blood:
2	chr6:119443357..119446070-chr6:119449134..119451032,2	K562	blood:
3	chr6:119444782..119447753-chr6:119449125..119451985,3	MCF-7	breast:
4	chr6:119450079..119455479-chr6:119456627..119461758,6	K562	blood:
5	chr6:119450270..119451239-chr6:119468206..119470213,5	MCF-7	breast:
6	chr6:119448712..119451778-chr6:119457620..119460720,3	K562	blood:
7	chr6:119450801..119453428-chr6:119630832..119632419,2	K562	blood:
8	chr6:119449639..119451430-chr6:119466197..119468847,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1150130	1.00[EUR][1000 genomes]
rs1150131	1.00[EUR][1000 genomes]
rs593386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs601734	1.00[EUR][1000 genomes]
rs615414	1.00[EUR][1000 genomes]
rs617200	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs637631	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs638083	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645361	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs680402	1.00[EUR][1000 genomes]
rs685956	1.00[EUR][1000 genomes]
rs811579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119445800-119453400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:119448400-119452000	Enhancers	K562	blood
3	chr6:119449000-119454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:119449200-119451600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:119449800-119453400	Weak transcription	Fetal Lung	lung
6	chr6:119450200-119452200	Enhancers	NHLF	lung
7	chr6:119450200-119452200	Enhancers	Osteobl	bone
8	chr6:119450400-119451000	Flanking Active TSS	HepG2	liver
9	chr6:119450400-119451200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:119450400-119451200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:119450400-119451200	Enhancers	Colon Smooth Muscle	Colon
12	chr6:119450400-119451200	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:119450400-119451200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:119450400-119451200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:119450400-119451600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:119450400-119451600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:119450400-119451600	Enhancers	Placenta	Placenta
18	chr6:119450400-119451800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:119450400-119451800	Enhancers	Hela-S3	cervix
20	chr6:119450400-119451800	Enhancers	HMEC	breast
21	chr6:119450400-119451800	Enhancers	HSMM	muscle
22	chr6:119450400-119452000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:119450400-119453200	Enhancers	Fetal Muscle Leg	muscle
24	chr6:119450400-119453400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:119450600-119451000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:119450600-119451200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr6:119450600-119451200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr6:119450600-119451800	Enhancers	HSMMtube	muscle
29	chr6:119450600-119451800	Enhancers	NHEK	skin
30	chr6:119450600-119452000	Bivalent Enhancer	A549	lung
31	chr6:119450600-119452200	Weak transcription	Pancreas	Pancrea
32	chr6:119450600-119453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:119450600-119453400	Weak transcription	Adipose Nuclei	Adipose
34	chr6:119450600-119453600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:119450600-119458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:119450600-119469600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:119450800-119451200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:119450800-119451200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:119450800-119451200	Flanking Active TSS	Stomach Mucosa	stomach
40	chr6:119450800-119451200	Flanking Active TSS	HUVEC	blood vessel
41	chr6:119450800-119451200	Flanking Active TSS	NH-A	brain
42	chr6:119450800-119451600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:119450800-119451600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:119450800-119451800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr6:119450800-119451800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr6:119450800-119452400	Enhancers	NHDF-Ad	bronchial
47	chr6:119450800-119453400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:119450800-119453400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:119450800-119453400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:119450800-119453400	Weak transcription	Monocytes-CD14+_RO01746	blood

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