Variant report

Variant	rs2640517
Chromosome Location	chr12:51531714-51531715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51511756..51514256-chr12:51530375..51532854,2	K562	blood:
2	chr12:51477465..51479681-chr12:51531530..51534326,2	K562	blood:
3	chr12:51530226..51532781-chr12:51632391..51634176,2	K562	blood:
4	chr12:51529565..51532298-chr12:51637533..51640310,2	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10735830	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2436639	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2436649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640508	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640524	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640529	0.95[AFR][1000 genomes]
rs2730658	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4238109	0.83[AFR][1000 genomes]
rs4768966	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6580786	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980639	0.84[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	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
3	esv2762980	chr12:51527963-51561056	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 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	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
4	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
5	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:51510200-51554400	Weak transcription	K562	blood
11	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:51512800-51535600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:51513000-51532200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
15	chr12:51514400-51532200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:51517200-51547600	Weak transcription	Fetal Kidney	kidney
17	chr12:51517200-51554600	Weak transcription	HepG2	liver
18	chr12:51519000-51533800	Weak transcription	Gastric	stomach
19	chr12:51519000-51541000	Weak transcription	Brain Substantia Nigra	brain
20	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
23	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
24	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
25	chr12:51519200-51531800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:51519200-51531800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:51519200-51532000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:51519200-51532000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:51519200-51532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:51519200-51532400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:51519200-51533800	Weak transcription	Spleen	Spleen
32	chr12:51519200-51534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:51519200-51535400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:51519200-51537800	Weak transcription	Liver	Liver
35	chr12:51519200-51540000	Weak transcription	Thymus	Thymus
36	chr12:51519200-51542000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:51519200-51544400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:51519200-51544600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:51519200-51554600	Weak transcription	NHDF-Ad	bronchial
40	chr12:51519200-51559600	Weak transcription	Lung	lung
41	chr12:51519200-51563800	Weak transcription	Fetal Brain Female	brain
42	chr12:51519200-51565000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:51519400-51531800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:51519400-51550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:51519400-51565200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:51521200-51532800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:51521200-51535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:51521400-51533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:51521400-51534600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:51521600-51531800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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