Variant report

Variant	rs12665822
Chromosome Location	chr6:117841326-117841327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117802670..117804620-chr6:117839004..117842734,3	K562	blood:
2	chr6:117839772..117841973-chr6:117880647..117882925,2	K562	blood:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1123836	0.88[EUR][1000 genomes]
rs11755719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664604	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321808	0.88[EUR][1000 genomes]
rs1321809	0.88[EUR][1000 genomes]
rs1321810	0.88[EUR][1000 genomes]
rs17165	0.89[AMR][1000 genomes]
rs17573446	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17574179	0.88[EUR][1000 genomes]
rs17574269	0.88[EUR][1000 genomes]
rs17575094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17575449	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17635492	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17636431	0.88[EUR][1000 genomes]
rs7453460	0.88[EUR][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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
2	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:117819800-117868800	Weak transcription	Spleen	Spleen
4	chr6:117821600-117868800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:117821800-117843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:117823200-117868800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:117823200-117869600	Weak transcription	Small Intestine	intestine
8	chr6:117826200-117842600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:117826200-117844800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:117826400-117859800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:117827200-117841600	Weak transcription	Adipose Nuclei	Adipose
12	chr6:117827600-117851200	Weak transcription	Lung	lung
13	chr6:117828000-117841400	Weak transcription	Left Ventricle	heart
14	chr6:117828000-117866200	Weak transcription	Esophagus	oesophagus
15	chr6:117828200-117851000	Weak transcription	Right Atrium	heart
16	chr6:117828400-117851600	Weak transcription	NHLF	lung
17	chr6:117832400-117841600	Weak transcription	HUVEC	blood vessel
18	chr6:117833600-117851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:117833800-117847000	Weak transcription	NHEK	skin
20	chr6:117833800-117849200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:117834400-117841400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:117834400-117852800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:117834400-117861800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:117834400-117863600	Weak transcription	Gastric	stomach
25	chr6:117834800-117841400	Weak transcription	Fetal Stomach	stomach
26	chr6:117834800-117841600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:117834800-117846600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:117834800-117851000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:117834800-117857400	Weak transcription	Aorta	Aorta
30	chr6:117834800-117860600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:117835000-117841600	Weak transcription	Fetal Lung	lung
32	chr6:117835200-117851600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:117835200-117868800	Weak transcription	Colonic Mucosa	Colon
34	chr6:117835400-117868800	Weak transcription	Psoas Muscle	Psoas
35	chr6:117835600-117852600	Weak transcription	HSMMtube	muscle
36	chr6:117835800-117857600	Weak transcription	Placenta	Placenta
37	chr6:117836600-117861800	Weak transcription	Pancreas	Pancrea
38	chr6:117836600-117869600	Weak transcription	Stomach Mucosa	stomach
39	chr6:117837200-117860600	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:117838600-117849800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:117838600-117869000	Weak transcription	Ovary	ovary
42	chr6:117839000-117841800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:117839000-117851400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:117839200-117841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:117840000-117842400	Genic enhancers	A549	lung
46	chr6:117840200-117842800	Strong transcription	NH-A	brain
47	chr6:117840600-117842600	Strong transcription	Osteobl	bone
48	chr6:117840800-117846200	Strong transcription	HMEC	breast
49	chr6:117841000-117841600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:117841000-117841600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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