Variant report

Variant	rs2076505
Chromosome Location	chr22:28424507-28424508
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	chr22:28421365..28425106-chr22:28428246..28431609,4	MCF-7	breast:
2	chr22:28422055..28424855-chr22:28425948..28427565,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12484116	0.83[JPT][hapmap]
rs12484349	0.80[EUR][1000 genomes]
rs16985722	1.00[CEU][hapmap]
rs16985863	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17484428	1.00[CEU][hapmap]
rs2235713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267128	1.00[CEU][hapmap]
rs2294818	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34564977	0.86[ASN][1000 genomes]
rs8137183	0.95[ASN][1000 genomes]
rs8138623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2076505	TTC28-AS1	cis	Whole Blood	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28399400-28425800	Weak transcription	Liver	Liver
2	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
3	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:28416000-28425000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:28416600-28431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr22:28416800-28425200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:28417000-28425800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:28417200-28424600	Weak transcription	Colonic Mucosa	Colon
9	chr22:28417200-28426000	Weak transcription	Brain Angular Gyrus	brain
10	chr22:28417400-28424800	Weak transcription	NHLF	lung
11	chr22:28417600-28424600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:28417600-28425400	Weak transcription	NHDF-Ad	bronchial
13	chr22:28417800-28426200	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr22:28418600-28429800	Strong transcription	Dnd41	blood
15	chr22:28419600-28426000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr22:28419800-28427400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:28420200-28426400	Enhancers	Psoas Muscle	Psoas
18	chr22:28420400-28425000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:28420400-28425600	Enhancers	Right Ventricle	heart
20	chr22:28421200-28424800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr22:28421200-28425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr22:28421600-28424800	Weak transcription	HSMM	muscle
23	chr22:28421600-28425000	Weak transcription	HSMMtube	muscle
24	chr22:28421600-28427200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:28421800-28425800	Enhancers	Spleen	Spleen
26	chr22:28421800-28427000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:28422000-28425000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:28422000-28426400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr22:28422200-28425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:28422200-28426800	Enhancers	Primary hematopoietic stem cells	blood
31	chr22:28422400-28426800	Strong transcription	Primary T cells from cord blood	blood
32	chr22:28422600-28426000	Enhancers	Fetal Heart	heart
33	chr22:28422800-28424800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:28422800-28426400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:28423000-28426400	Enhancers	Stomach Mucosa	stomach
36	chr22:28423000-28426800	Enhancers	Left Ventricle	heart
37	chr22:28423000-28427000	Genic enhancers	Fetal Stomach	stomach
38	chr22:28423000-28427400	Enhancers	Brain Cingulate Gyrus	brain
39	chr22:28423000-28427400	Genic enhancers	Fetal Brain Female	brain
40	chr22:28423000-28427600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:28423000-28427600	Enhancers	Esophagus	oesophagus
42	chr22:28423200-28424800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:28423200-28424800	Enhancers	Fetal Brain Male	brain
44	chr22:28423200-28425000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:28423200-28425800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr22:28423200-28426400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr22:28423200-28426800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:28423200-28426800	Enhancers	Right Atrium	heart
49	chr22:28423200-28427000	Enhancers	Brain Substantia Nigra	brain
50	chr22:28423200-28427200	Enhancers	Cortex derived primary cultured neurospheres	brain

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