Variant report

Variant	rs56241657
Chromosome Location	chr12:122798403-122798404
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	chr12:122791395..122793721-chr12:122797748..122800874,3	K562	blood:
2	chr12:122797956..122799865-chr12:122801211..122803514,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12579871	1.00[EUR][1000 genomes]
rs34996966	1.00[EUR][1000 genomes]
rs35944862	1.00[EUR][1000 genomes]
rs55759231	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55778375	1.00[EUR][1000 genomes]
rs56038133	1.00[EUR][1000 genomes]
rs56207858	1.00[EUR][1000 genomes]
rs56219573	1.00[EUR][1000 genomes]
rs56981632	1.00[EUR][1000 genomes]
rs58226649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59315366	1.00[EUR][1000 genomes]
rs59553747	1.00[EUR][1000 genomes]
rs59743902	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60258475	1.00[EUR][1000 genomes]
rs60317410	1.00[EUR][1000 genomes]
rs60623525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61096099	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61954384	1.00[EUR][1000 genomes]
rs6488916	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71082959	1.00[EUR][1000 genomes]
rs7955389	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:122765800-122803400	Weak transcription	K562	blood
8	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:122775600-122800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:122775600-122833600	Strong transcription	Liver	Liver
12	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:122778000-122808800	Weak transcription	Fetal Heart	heart
14	chr12:122780000-122827200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:122780400-122799200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:122780400-122812000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:122780400-122812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:122780800-122800800	Weak transcription	Fetal Lung	lung
19	chr12:122781400-122821400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:122782800-122803400	Weak transcription	Colonic Mucosa	Colon
21	chr12:122782800-122803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:122784000-122798800	Weak transcription	HepG2	liver
23	chr12:122785800-122827200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:122786200-122803200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr12:122787000-122803800	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:122787200-122809000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:122787400-122803600	Weak transcription	Stomach Mucosa	stomach
28	chr12:122787800-122804400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:122788200-122799000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:122788200-122799200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:122788200-122821200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:122790000-122810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:122791200-122841600	Strong transcription	Placenta	Placenta
34	chr12:122792400-122819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:122793400-122799000	Weak transcription	Brain Angular Gyrus	brain
36	chr12:122793400-122800800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:122793400-122810600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:122793600-122802200	Weak transcription	Fetal Kidney	kidney
39	chr12:122794400-122799000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:122794400-122799000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:122794400-122801000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:122794600-122798800	Weak transcription	HSMM	muscle
43	chr12:122794600-122799000	Weak transcription	Aorta	Aorta
44	chr12:122794600-122799000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:122794600-122799200	Weak transcription	HMEC	breast
46	chr12:122794600-122799400	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:122794600-122799400	Weak transcription	NHDF-Ad	bronchial
48	chr12:122794600-122799600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:122794600-122802200	Weak transcription	Ovary	ovary
50	chr12:122794600-122811800	Weak transcription	Small Intestine	intestine

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