Variant report

Variant	rs73742531
Chromosome Location	chr6:28292648-28292649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27805510..27808348-chr6:28291399..28294314,2	K562	blood:
2	chr6:28290697..28292824-chr6:28302762..28304976,2	MCF-7	breast:
3	chr6:28185352..28187060-chr6:28290813..28293732,2	K562	blood:
4	chr6:28278690..28281090-chr6:28292415..28293983,2	K562	blood:

Variant related genes	Relation type
ENSG00000184348	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000233822	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1150682	1.00[EUR][1000 genomes]
rs1225593	1.00[EUR][1000 genomes]
rs1619221	1.00[EUR][1000 genomes]
rs175955	1.00[EUR][1000 genomes]
rs1770132	1.00[EUR][1000 genomes]
rs203867	1.00[EUR][1000 genomes]
rs2622318	1.00[EUR][1000 genomes]
rs34223404	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36092177	1.00[ASN][1000 genomes]
rs55826226	1.00[EUR][1000 genomes]
rs57481919	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57672617	1.00[EUR][1000 genomes]
rs60005089	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740585	1.00[EUR][1000 genomes]
rs73740597	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73740600	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73740605	1.00[EUR][1000 genomes]
rs73740628	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73740636	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73742514	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742515	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742537	0.89[AMR][1000 genomes];1.00[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	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28250000-28293800	Weak transcription	Gastric	stomach
2	chr6:28255200-28293800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:28268800-28293400	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:28270000-28293400	Weak transcription	Brain Angular Gyrus	brain
5	chr6:28271200-28293800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:28271400-28293400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:28272400-28293200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:28279400-28293800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:28281200-28293600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:28288200-28299200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:28288800-28293600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:28289200-28293600	Weak transcription	Brain Substantia Nigra	brain
13	chr6:28289600-28293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:28290000-28293600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:28290200-28293600	Weak transcription	Colonic Mucosa	Colon
16	chr6:28290600-28295800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr6:28290800-28293000	Strong transcription	Fetal Stomach	stomach
18	chr6:28290800-28298200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr6:28291400-28295600	ZNF genes & repeats	Ovary	ovary
20	chr6:28291400-28298000	ZNF genes & repeats	Liver	Liver
21	chr6:28291600-28293400	Strong transcription	Fetal Brain Female	brain
22	chr6:28291600-28294000	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr6:28291600-28295600	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr6:28291600-28295600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
25	chr6:28291600-28295600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr6:28291600-28296000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:28291800-28292800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:28291800-28293800	Strong transcription	Brain Hippocampus Middle	brain
29	chr6:28291800-28295600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr6:28292000-28295800	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr6:28292200-28292800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:28292200-28293000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:28292200-28293000	Enhancers	HepG2	liver
34	chr6:28292200-28293600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:28292200-28293600	Weak transcription	Brain Anterior Caudate	brain
36	chr6:28292200-28293600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:28292200-28293800	Weak transcription	Pancreas	Pancrea
38	chr6:28292200-28294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:28292200-28294000	Weak transcription	Aorta	Aorta
40	chr6:28292200-28294000	Weak transcription	Lung	lung
41	chr6:28292400-28292800	Weak transcription	Left Ventricle	heart
42	chr6:28292400-28292800	Weak transcription	Right Ventricle	heart
43	chr6:28292400-28293600	Strong transcription	Fetal Heart	heart
44	chr6:28292600-28293800	Strong transcription	Brain Germinal Matrix	brain
45	chr6:28292600-28295600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr6:28292600-28295600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr6:28292600-28295600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr6:28292600-28297200	ZNF genes & repeats	Stomach Smooth Muscle	stomach

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