Variant report

Variant	rs6580786
Chromosome Location	chr12:51487869-51487870
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51483401..51485613-chr12:51487391..51490176,3	K562	blood:
2	chr12:51484035..51486422-chr12:51486833..51488800,2	MCF-7	breast:
3	chr12:51474025..51479149-chr12:51485745..51494502,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10735830	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2436639	1.00[AMR][1000 genomes]
rs2436649	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640519	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640529	0.85[AFR][1000 genomes]
rs2730658	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4238109	0.93[AFR][1000 genomes]
rs4768966	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968372	0.82[AFR][1000 genomes]
rs7980639	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51488200	Weak transcription	Spleen	Spleen
2	chr12:51477400-51488800	Weak transcription	Gastric	stomach
3	chr12:51477400-51490000	Weak transcription	Small Intestine	intestine
4	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:51477800-51488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51477800-51488000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:51477800-51488000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:51477800-51488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:51477800-51488000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:51477800-51488000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:51477800-51488000	Weak transcription	Fetal Heart	heart
12	chr12:51477800-51488000	Weak transcription	Fetal Kidney	kidney
13	chr12:51477800-51488000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:51477800-51488000	Weak transcription	Thymus	Thymus
15	chr12:51477800-51488000	Weak transcription	HUVEC	blood vessel
16	chr12:51477800-51488000	Weak transcription	NHEK	skin
17	chr12:51477800-51488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:51477800-51488200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:51477800-51488200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:51477800-51488200	Weak transcription	Ovary	ovary
21	chr12:51477800-51488200	Weak transcription	Right Ventricle	heart
22	chr12:51477800-51488400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:51477800-51488600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:51477800-51488800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:51477800-51490000	Weak transcription	Aorta	Aorta
26	chr12:51477800-51492600	Weak transcription	Esophagus	oesophagus
27	chr12:51477800-51499600	Weak transcription	NHLF	lung
28	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
30	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:51478000-51488000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:51478000-51488000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:51478000-51488000	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:51478000-51488000	Weak transcription	Fetal Intestine Large	intestine
35	chr12:51478000-51488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:51478000-51488200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:51478000-51496000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:51478200-51493200	Weak transcription	Fetal Brain Male	brain
39	chr12:51479800-51492000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:51480400-51488200	Weak transcription	Psoas Muscle	Psoas
41	chr12:51482800-51498000	Strong transcription	Fetal Muscle Leg	muscle
42	chr12:51482800-51499400	Strong transcription	Fetal Stomach	stomach
43	chr12:51483000-51492200	Weak transcription	K562	blood
44	chr12:51483200-51488000	Weak transcription	Colonic Mucosa	Colon
45	chr12:51483800-51513400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:51484000-51488000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:51484000-51491000	Strong transcription	HSMM	muscle
48	chr12:51484000-51502000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:51484400-51506000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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