Variant report

Variant	rs73323300
Chromosome Location	chr12:62911830-62911831
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62901029..62903305-chr12:62910983..62913530,2	MCF-7	breast:
2	chr12:62859503..62861171-chr12:62910614..62912246,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11835000	1.00[EUR][1000 genomes]
rs61562268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310406	1.00[EUR][1000 genomes]
rs73310429	1.00[EUR][1000 genomes]
rs73319579	1.00[EUR][1000 genomes]
rs73319581	1.00[EUR][1000 genomes]
rs73321560	1.00[EUR][1000 genomes]
rs73321575	1.00[EUR][1000 genomes]
rs73321578	1.00[EUR][1000 genomes]
rs73321591	1.00[EUR][1000 genomes]
rs73321596	1.00[EUR][1000 genomes]
rs73323250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73325240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3390559	chr12:62902734-62920842	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:62866600-62912400	Weak transcription	NHLF	lung
4	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
5	chr12:62871800-62926200	Weak transcription	Fetal Brain Male	brain
6	chr12:62874600-62917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:62876000-62937400	Weak transcription	Gastric	stomach
8	chr12:62876200-62913000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:62879000-62912000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
11	chr12:62894400-62926200	Weak transcription	NH-A	brain
12	chr12:62897000-62916400	Weak transcription	Fetal Heart	heart
13	chr12:62897600-62931000	Weak transcription	K562	blood
14	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
15	chr12:62898000-62923400	Weak transcription	NHDF-Ad	bronchial
16	chr12:62898600-62912800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:62902400-62929200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:62902600-62912200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:62902600-62913200	Weak transcription	Ovary	ovary
20	chr12:62902600-62926600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:62902600-62927000	Weak transcription	Colonic Mucosa	Colon
22	chr12:62903600-62912400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:62903600-62917000	Weak transcription	HepG2	liver
24	chr12:62903600-62918800	Weak transcription	Osteobl	bone
25	chr12:62903600-62926200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:62903600-62926200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:62903600-62926200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:62903600-62949800	Weak transcription	NHEK	skin
29	chr12:62903800-62924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:62903800-62926200	Weak transcription	Hela-S3	cervix
31	chr12:62904400-62912000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:62904400-62915800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:62904400-62926200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:62904600-62926200	Weak transcription	HMEC	breast
35	chr12:62904600-62927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:62904600-62929200	Weak transcription	HUVEC	blood vessel
37	chr12:62904800-62912400	Weak transcription	Brain Anterior Caudate	brain
38	chr12:62904800-62914200	Weak transcription	Liver	Liver
39	chr12:62905000-62918400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:62905200-62915000	Weak transcription	HSMM	muscle
41	chr12:62905400-62926600	Weak transcription	HSMMtube	muscle
42	chr12:62906000-62913000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:62906400-62943800	Weak transcription	Aorta	Aorta
44	chr12:62906600-62931600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:62906800-62913000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:62906800-62926200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:62906800-62927400	Weak transcription	Brain Germinal Matrix	brain
48	chr12:62907000-62912200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:62907000-62912200	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:62907000-62912200	Weak transcription	GM12878-XiMat	blood

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