Variant report

Variant	rs7310522
Chromosome Location	chr12:50902441-50902442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50901773..50903761-chr12:50910341..50913326,3	MCF-7	breast:
2	chr12:50900950..50904807-chr12:50918762..50923043,5	MCF-7	breast:
3	chr12:50900701..50902991-chr12:51029876..51032348,2	MCF-7	breast:
4	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:
5	chr12:50902263..50904059-chr12:50931126..50932757,2	MCF-7	breast:
6	chr12:50902319..50904696-chr12:50908073..50909903,2	K562	blood:
7	chr12:50899807..50901324-chr12:50901368..50903053,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431533	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876079	1.00[EUR][1000 genomes]
rs11169464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169472	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12146806	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302810	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302812	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12367373	1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	1.00[EUR][1000 genomes]
rs2037453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2253376	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2464125	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2468378	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684895	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684897	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684905	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684909	1.00[EUR][1000 genomes]
rs2700476	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700483	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731441	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	1.00[EUR][1000 genomes]
rs2731447	1.00[EUR][1000 genomes]
rs2731448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4334109	1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	1.00[EUR][1000 genomes]
rs4768896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768908	1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	1.00[EUR][1000 genomes]
rs6580749	1.00[EUR][1000 genomes]
rs6580750	1.00[EUR][1000 genomes]
rs6580758	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580759	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7296277	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310686	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	1.00[EUR][1000 genomes]
rs7954152	1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	1.00[EUR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804978	0.82[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	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50899600-50903400	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr12:50899600-50903400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr12:50899800-50902600	Weak transcription	Lung	lung
4	chr12:50899800-50903600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr12:50900000-50902600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:50900000-50903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:50900000-50903400	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr12:50900000-50903600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:50900000-50911000	Weak transcription	Colonic Mucosa	Colon
10	chr12:50900000-50911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
12	chr12:50900200-50902600	Enhancers	Fetal Brain Male	brain
13	chr12:50900200-50902800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:50900200-50903400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:50900200-50903800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:50900200-50903800	Enhancers	Stomach Mucosa	stomach
17	chr12:50900200-50904400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:50900200-50904400	Weak transcription	Aorta	Aorta
19	chr12:50900200-50906800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:50900200-50911200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:50900400-50903000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:50900400-50904000	Enhancers	K562	blood
23	chr12:50900400-50910000	Weak transcription	Fetal Stomach	stomach
24	chr12:50900600-50902600	Enhancers	Colon Smooth Muscle	Colon
25	chr12:50900600-50903600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:50900600-50903800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:50900600-50904600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:50900600-50916400	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
30	chr12:50900800-50902600	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:50900800-50902800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:50900800-50902800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:50900800-50903000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:50900800-50903200	Weak transcription	HSMMtube	muscle
35	chr12:50900800-50903600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:50900800-50908600	Weak transcription	Right Ventricle	heart
37	chr12:50900800-50911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:50901000-50902800	Enhancers	A549	lung
39	chr12:50901000-50903400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:50901000-50903400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:50901000-50903400	Enhancers	Left Ventricle	heart
42	chr12:50901000-50903600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:50901000-50903600	Enhancers	Adipose Nuclei	Adipose
44	chr12:50901000-50903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:50901000-50904200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr12:50901000-50904600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:50901000-50907000	Weak transcription	Ovary	ovary
48	chr12:50901000-50910800	Weak transcription	HUVEC	blood vessel
49	chr12:50901000-50911000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:50901200-50902600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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