Variant report

Variant	rs57715507
Chromosome Location	chr12:62903418-62903419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62887479..62889929-chr12:62903301..62905417,2	MCF-7	breast:
2	chr12:62860005..62861659-chr12:62903072..62905027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506442	0.83[EUR][1000 genomes]
rs10506443	0.89[ASN][1000 genomes]
rs11614276	0.87[ASN][1000 genomes]
rs12146793	0.89[ASN][1000 genomes]
rs12371458	0.91[ASN][1000 genomes]
rs12423344	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12424006	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12427111	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17097966	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17098038	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17120341	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1982991	0.91[ASN][1000 genomes]
rs4763172	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763173	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763176	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59191400	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61556144	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61919477	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61919478	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61919479	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61919485	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61921903	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61921904	0.83[EUR][1000 genomes]
rs61921905	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61921908	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61921909	0.89[ASN][1000 genomes]
rs61921910	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61921911	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61921913	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61921914	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7136696	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7307786	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7309338	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7316437	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73323255	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7958721	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964791	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7965328	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969992	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3390559	chr12:62902734-62920842	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62863400-62911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:62864000-62906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:62866200-62906200	Weak transcription	Aorta	Aorta
6	chr12:62866600-62906200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:62866600-62912400	Weak transcription	NHLF	lung
8	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
9	chr12:62869000-62904400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:62871000-62910800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:62871800-62926200	Weak transcription	Fetal Brain Male	brain
12	chr12:62874600-62917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:62876000-62905800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:62876000-62937400	Weak transcription	Gastric	stomach
15	chr12:62876200-62913000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:62877800-62906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:62879000-62912000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:62886000-62911200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:62888400-62904400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:62888800-62906400	Weak transcription	Right Ventricle	heart
21	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
22	chr12:62891000-62904400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:62891800-62904800	Weak transcription	HSMMtube	muscle
24	chr12:62892200-62904400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:62892800-62911200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:62893800-62905000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:62894200-62903600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:62894200-62904000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:62894400-62926200	Weak transcription	NH-A	brain
30	chr12:62895200-62905200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:62895200-62906200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:62895400-62906200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:62895800-62906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:62896200-62904600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:62896600-62903600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:62896600-62904400	Strong transcription	Dnd41	blood
37	chr12:62897000-62904200	Weak transcription	HMEC	breast
38	chr12:62897000-62916400	Weak transcription	Fetal Heart	heart
39	chr12:62897200-62904400	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:62897600-62904600	Weak transcription	HSMM	muscle
41	chr12:62897600-62931000	Weak transcription	K562	blood
42	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
43	chr12:62897800-62911200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:62898000-62923400	Weak transcription	NHDF-Ad	bronchial
45	chr12:62898400-62904600	Strong transcription	Fetal Lung	lung
46	chr12:62898600-62912800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:62898800-62906200	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:62899000-62906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:62899800-62906000	Weak transcription	Brain Germinal Matrix	brain
50	chr12:62900400-62906200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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