Variant report

Variant	rs60760540
Chromosome Location	chr12:51000484-51000485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11836763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11838333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58366731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7959868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976860	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
3	chr12:50991400-51006600	Weak transcription	Esophagus	oesophagus
4	chr12:50991600-51009600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:50991800-51003200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:50991800-51003200	Weak transcription	Small Intestine	intestine
8	chr12:50991800-51006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:50992000-51006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:50992200-51005400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:50992400-51001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:50992400-51004200	Weak transcription	HSMMtube	muscle
13	chr12:50992400-51005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:50992400-51005600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:50992400-51006600	Weak transcription	Psoas Muscle	Psoas
16	chr12:50992400-51007200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:50992400-51007400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:50992400-51007400	Weak transcription	Dnd41	blood
19	chr12:50992400-51009200	Weak transcription	Fetal Thymus	thymus
20	chr12:50992400-51009600	Weak transcription	Thymus	Thymus
21	chr12:50992400-51015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:50992800-51006800	Weak transcription	HSMM	muscle
23	chr12:50992800-51007200	Weak transcription	Hela-S3	cervix
24	chr12:50993000-51013800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:50993000-51013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:50993200-51000600	Weak transcription	Right Atrium	heart
27	chr12:50993600-51000600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:50993600-51007200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:50993600-51013400	Weak transcription	GM12878-XiMat	blood
30	chr12:50994200-51001000	Weak transcription	Fetal Lung	lung
31	chr12:50994200-51005800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:50994400-51001200	Weak transcription	A549	lung
33	chr12:50994400-51001400	Weak transcription	Brain Angular Gyrus	brain
34	chr12:50994400-51012400	Weak transcription	Primary T cells from cord blood	blood
35	chr12:50994600-51018600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:50995000-51000600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:50995000-51000600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:50995200-51005600	Weak transcription	Placenta	Placenta
39	chr12:50996000-51006600	Weak transcription	Primary B cells from cord blood	blood
40	chr12:50997000-51000600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:50997200-51007800	Weak transcription	Fetal Kidney	kidney
42	chr12:50997400-51002000	Weak transcription	Colonic Mucosa	Colon
43	chr12:50997600-51013000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:50997600-51014200	Weak transcription	Spleen	Spleen
45	chr12:50998000-51000600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:50998000-51000600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:50998000-51003000	Weak transcription	K562	blood
48	chr12:50998000-51003200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:50998000-51003200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:50998000-51004800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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