Variant report

Variant	rs73417658
Chromosome Location	chr12:122519193-122519194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149857369..149859251-chr12:122516305..122519286,2	MCF-7	breast:
2	chr12:122472899..122475039-chr12:122517716..122519220,2	MCF-7	breast:
3	chr12:122459612..122462299-chr12:122516387..122519300,2	K562	blood:
4	chr12:122516647..122521114-chr12:122579806..122584006,9	K562	blood:
5	chr12:122499171..122504349-chr12:122514733..122520643,17	K562	blood:
6	chr12:122516801..122519541-chr12:122589557..122592408,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256546	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56408328	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57575365	0.83[AFR][1000 genomes]
rs73417629	0.87[AMR][1000 genomes]
rs73417632	0.87[AMR][1000 genomes]
rs73417638	0.87[AMR][1000 genomes]
rs73417656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122515200-122519800	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:122515600-122519800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:122515800-122520000	Active TSS	Aorta	Aorta
4	chr12:122515800-122520000	Active TSS	Right Ventricle	heart
5	chr12:122515800-122520200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:122516000-122519400	Active TSS	Psoas Muscle	Psoas
7	chr12:122516000-122519800	Active TSS	Small Intestine	intestine
8	chr12:122516000-122521000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:122516200-122519600	Active TSS	Colonic Mucosa	Colon
10	chr12:122516200-122520000	Active TSS	Gastric	stomach
11	chr12:122516200-122520000	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr12:122516400-122519200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:122516600-122520800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:122517000-122519200	Active TSS	Stomach Mucosa	stomach
15	chr12:122517000-122520200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr12:122517000-122520200	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr12:122517000-122520200	Flanking Active TSS	HepG2	liver
18	chr12:122517000-122520200	Flanking Active TSS	NH-A	brain
19	chr12:122517000-122520400	Flanking Active TSS	Dnd41	blood
20	chr12:122517000-122520800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr12:122517000-122521200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:122517000-122521400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:122517000-122521400	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:122517000-122521800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:122517200-122519200	Active TSS	Right Atrium	heart
26	chr12:122517200-122519400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr12:122517200-122519400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:122517200-122520000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:122517200-122520200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr12:122517200-122520400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr12:122517200-122520400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr12:122517200-122521000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr12:122517400-122520000	Flanking Active TSS	Hela-S3	cervix
34	chr12:122517400-122521000	Flanking Active TSS	Fetal Thymus	thymus
35	chr12:122517400-122521200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr12:122517600-122519400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:122517600-122520200	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr12:122517600-122521200	Flanking Active TSS	HUVEC	blood vessel
39	chr12:122517600-122521200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:122517800-122519200	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr12:122517800-122519400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:122517800-122520200	Flanking Active TSS	Liver	Liver
43	chr12:122517800-122520400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr12:122517800-122520600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
45	chr12:122518000-122519200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:122518000-122519200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:122518000-122520000	Flanking Active TSS	A549	lung
48	chr12:122518000-122520200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:122518000-122520200	Flanking Active TSS	Osteobl	bone
50	chr12:122518000-122520600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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