Variant report

Variant	rs824728
Chromosome Location	chr12:42487146-42487147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42480575..42482841-chr12:42486145..42488403,3	K562	blood:
2	chr12:42480575..42482340-chr12:42486145..42488403,2	K562	blood:
3	chr12:42483747..42485881-chr12:42486053..42487820,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1628339	0.82[AFR][1000 genomes]
rs1683199	0.82[AFR][1000 genomes]
rs73280034	1.00[AMR][1000 genomes]
rs73280061	1.00[AMR][1000 genomes]
rs73280080	1.00[AMR][1000 genomes]
rs73281818	1.00[AMR][1000 genomes]
rs824696	0.82[AFR][1000 genomes]
rs824727	0.82[AFR][1000 genomes]
rs824729	0.82[AFR][1000 genomes]
rs844045	0.82[AFR][1000 genomes]
rs850964	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2025559	chr12:42481619-42491335	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
2	chr12:42469400-42491800	Weak transcription	Ovary	ovary
3	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
6	chr12:42472200-42487800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:42472800-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
9	chr12:42474200-42487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:42474800-42487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:42474800-42487600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:42475000-42491800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:42476000-42524400	Weak transcription	Gastric	stomach
18	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
19	chr12:42476400-42487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:42476400-42487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:42476400-42489800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
23	chr12:42477600-42490400	Weak transcription	Thymus	Thymus
24	chr12:42478000-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:42478000-42505000	Weak transcription	Lung	lung
26	chr12:42478400-42489600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:42478600-42487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:42478600-42511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:42479200-42496800	Weak transcription	Psoas Muscle	Psoas
30	chr12:42479400-42488600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:42479600-42505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:42479800-42489600	Weak transcription	Fetal Thymus	thymus
33	chr12:42480000-42489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:42480000-42492400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:42480200-42489400	Weak transcription	Dnd41	blood
36	chr12:42480200-42489800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:42480200-42492000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:42480200-42505600	Weak transcription	Fetal Lung	lung
39	chr12:42480200-42512000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:42480600-42491600	Weak transcription	Fetal Heart	heart
41	chr12:42480600-42504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:42480800-42487800	Weak transcription	K562	blood
43	chr12:42481400-42487600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:42481400-42490000	Weak transcription	Liver	Liver
45	chr12:42481600-42491200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:42481800-42491400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:42482200-42487400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:42482200-42489800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:42483000-42502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:42483200-42499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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