Variant report

Variant	rs2730658
Chromosome Location	chr12:51520657-51520658
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51476824..51479027-chr12:51519874..51522162,2	MCF-7	breast:
2	chr1:225592721..225593555-chr12:51520651..51521367,2	Hela-S3	cervix:
3	chr12:51476664..51478784-chr12:51519007..51521110,2	K562	blood:
4	chr12:51519067..51522017-chr12:51633023..51634538,2	K562	blood:
5	chr12:51520104..51521689-chr12:51611427..51613288,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000183283	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735830	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2436639	1.00[AMR][1000 genomes]
rs2436649	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640508	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640517	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640519	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640524	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640529	0.86[AFR][1000 genomes]
rs4768966	1.00[AMR][1000 genomes]
rs6580786	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971712	0.84[MKK][hapmap];0.91[YRI][hapmap]

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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:51501000-51521000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
6	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
8	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:51509600-51520800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:51510200-51526000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:51510200-51554400	Weak transcription	K562	blood
17	chr12:51511400-51520800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:51511400-51531400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:51512800-51535600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:51513000-51532200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
23	chr12:51513200-51522600	Weak transcription	NH-A	brain
24	chr12:51513200-51524200	Weak transcription	Fetal Brain Male	brain
25	chr12:51513200-51531600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:51513400-51527800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:51514400-51532200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:51517200-51521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:51517200-51547600	Weak transcription	Fetal Kidney	kidney
30	chr12:51517200-51554600	Weak transcription	HepG2	liver
31	chr12:51517600-51520800	Weak transcription	Psoas Muscle	Psoas
32	chr12:51517600-51524600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:51519000-51520800	Weak transcription	HUVEC	blood vessel
34	chr12:51519000-51526600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:51519000-51526600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:51519000-51529400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:51519000-51529400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:51519000-51530200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:51519000-51530400	Weak transcription	Ovary	ovary
40	chr12:51519000-51531600	Weak transcription	Adipose Nuclei	Adipose
41	chr12:51519000-51533800	Weak transcription	Gastric	stomach
42	chr12:51519000-51541000	Weak transcription	Brain Substantia Nigra	brain
43	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
46	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
47	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
48	chr12:51519200-51520800	Weak transcription	NHLF	lung
49	chr12:51519200-51521800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:51519200-51522800	Weak transcription	Brain Germinal Matrix	brain

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