Variant report

Variant	rs61288722
Chromosome Location	chr12:117442172-117442173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117441591..117444664-chr12:117447106..117450120,5	MCF-7	breast:
2	chr12:117437746..117440229-chr12:117441303..117443639,2	K562	blood:
3	chr12:117439692..117442558-chr12:117449975..117451489,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1032528	0.80[EUR][1000 genomes]
rs1051879	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068246	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068255	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11833966	0.80[EUR][1000 genomes]
rs11836743	0.93[EUR][1000 genomes]
rs12099584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308592	0.89[AMR][1000 genomes]
rs12313248	0.89[AMR][1000 genomes]
rs12316811	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12317604	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12321592	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947122	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947131	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947144	1.00[EUR][1000 genomes]
rs16947209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947233	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947295	0.86[EUR][1000 genomes]
rs4094199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41364651	0.86[EUR][1000 genomes]
rs4451816	0.89[AMR][1000 genomes]
rs57135901	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58882507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59373313	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59623332	0.93[EUR][1000 genomes]
rs60272946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61178788	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61207925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133142	0.89[AMR][1000 genomes]
rs7133609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136880	0.89[AMR][1000 genomes]
rs7302713	0.89[AMR][1000 genomes]
rs7305313	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7314897	1.00[EUR][1000 genomes]
rs73395566	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395571	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395601	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397424	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397488	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73403259	0.80[EUR][1000 genomes]
rs73403260	0.80[EUR][1000 genomes]
rs73403261	0.80[EUR][1000 genomes]
rs73403264	0.80[EUR][1000 genomes]
rs73403270	0.80[EUR][1000 genomes]
rs7958175	0.93[EUR][1000 genomes]
rs7959860	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7963012	0.89[AMR][1000 genomes];0.86[EUR][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
5	chr12:117404600-117442400	Weak transcription	HepG2	liver
6	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
9	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
11	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
12	chr12:117418400-117442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:117418400-117444600	Weak transcription	HUVEC	blood vessel
14	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:117426800-117445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:117427200-117442400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:117427200-117442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:117427800-117443400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:117428000-117442400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:117428000-117442400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:117428000-117442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:117428200-117442200	Weak transcription	A549	lung
23	chr12:117428200-117442400	Weak transcription	Fetal Kidney	kidney
24	chr12:117428200-117442400	Weak transcription	Fetal Thymus	thymus
25	chr12:117428200-117447600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:117428600-117442400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:117428600-117442800	Weak transcription	NHDF-Ad	bronchial
28	chr12:117428800-117442400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:117429400-117442600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:117429600-117442600	Weak transcription	HSMMtube	muscle
31	chr12:117429800-117442400	Weak transcription	Adipose Nuclei	Adipose
32	chr12:117429800-117442400	Weak transcription	Dnd41	blood
33	chr12:117430000-117442400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:117430800-117442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:117432000-117446200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:117432200-117444200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:117432200-117446400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:117432600-117445800	Strong transcription	Fetal Muscle Leg	muscle
39	chr12:117432800-117444600	Strong transcription	Fetal Stomach	stomach
40	chr12:117434200-117442400	Weak transcription	NH-A	brain
41	chr12:117434200-117443200	Weak transcription	Hela-S3	cervix
42	chr12:117434200-117449800	Weak transcription	NHEK	skin
43	chr12:117434400-117442800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:117434800-117443000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:117434800-117444200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:117435600-117442200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:117435600-117442400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:117435600-117449800	Weak transcription	Stomach Mucosa	stomach
49	chr12:117436800-117445600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:117437000-117447800	Weak transcription	Colon Smooth Muscle	Colon

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