Variant report

Variant	rs2640529
Chromosome Location	chr12:51537733-51537734
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	chr12:51534963..51537834-chr12:51539860..51541619,2	K562	blood:

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

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

rs_ID	r²[population]
rs10735830	0.92[AFR][1000 genomes]
rs2436639	0.80[AFR][1000 genomes]
rs2436649	0.92[AFR][1000 genomes]
rs2640508	0.95[AFR][1000 genomes]
rs2640517	0.95[AFR][1000 genomes]
rs2640519	0.95[AFR][1000 genomes]
rs2640524	0.88[AFR][1000 genomes]
rs2730658	0.86[AFR][1000 genomes]
rs4238109	1.00[AMR][1000 genomes]
rs4768966	0.83[AFR][1000 genomes]
rs6580786	0.85[AFR][1000 genomes]
rs7980639	0.80[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	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
2	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
3	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:51510200-51554400	Weak transcription	K562	blood
7	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
9	chr12:51517200-51547600	Weak transcription	Fetal Kidney	kidney
10	chr12:51517200-51554600	Weak transcription	HepG2	liver
11	chr12:51519000-51541000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
15	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
16	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
17	chr12:51519200-51537800	Weak transcription	Liver	Liver
18	chr12:51519200-51540000	Weak transcription	Thymus	Thymus
19	chr12:51519200-51542000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:51519200-51544400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:51519200-51544600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:51519200-51554600	Weak transcription	NHDF-Ad	bronchial
23	chr12:51519200-51559600	Weak transcription	Lung	lung
24	chr12:51519200-51563800	Weak transcription	Fetal Brain Female	brain
25	chr12:51519200-51565000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:51519400-51550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:51519400-51565200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:51521600-51541800	Weak transcription	NHLF	lung
29	chr12:51521600-51565200	Weak transcription	HSMM	muscle
30	chr12:51521800-51538400	Weak transcription	HMEC	breast
31	chr12:51523600-51544400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:51526000-51558800	Weak transcription	GM12878-XiMat	blood
33	chr12:51526400-51538600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:51526800-51542600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:51526800-51556400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:51527200-51541000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:51527200-51542200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:51527400-51565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:51527600-51540400	Weak transcription	Colonic Mucosa	Colon
40	chr12:51528200-51554600	Weak transcription	A549	lung
41	chr12:51530600-51539400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:51530600-51564200	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:51530800-51539000	Weak transcription	Aorta	Aorta
44	chr12:51531000-51538000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:51531200-51563400	Weak transcription	Hela-S3	cervix
46	chr12:51531800-51550200	Weak transcription	NHEK	skin
47	chr12:51531800-51554400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:51532000-51565000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:51532200-51550000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:51532400-51540400	Weak transcription	Duodenum Mucosa	Duodenum

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