Variant report

Variant	rs518285
Chromosome Location	chr12:63197102-63197103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63196813..63197745-chr12:63462451..63462996,2	MCF-7	breast:
2	chr12:63196838..63197455-chr12:63206767..63207402,2	MCF-7	breast:
3	chr12:63196471..63197278-chr12:63377130..63377892,2	K562	blood:
4	chr12:63191798..63194501-chr12:63197059..63199870,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2652028	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2652030	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2652031	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663955	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663957	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2663959	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663961	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704758	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704759	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704761	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704764	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs478720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479646	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500505	1.00[CEU][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506821	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs510656	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs535206	1.00[CEU][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs536052	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs563718	0.90[YRI][hapmap]
rs564501	0.88[YRI][hapmap]
rs593350	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs627273	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs639821	0.80[YRI][hapmap]
rs642388	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.93[ASN][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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
2	chr12:63180400-63199000	Weak transcription	Aorta	Aorta
3	chr12:63181200-63197800	Weak transcription	Spleen	Spleen
4	chr12:63181200-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:63181200-63200400	Weak transcription	Lung	lung
6	chr12:63186400-63198000	Weak transcription	Ovary	ovary
7	chr12:63187800-63205200	Weak transcription	K562	blood
8	chr12:63187800-63206400	Weak transcription	Osteobl	bone
9	chr12:63187800-63206800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:63188000-63198800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:63188000-63206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:63188600-63197600	Weak transcription	Liver	Liver
14	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:63193000-63201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:63193400-63206800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:63194000-63198800	Weak transcription	GM12878-XiMat	blood
18	chr12:63194800-63197200	Weak transcription	A549	lung
19	chr12:63195000-63198000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:63195400-63206000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:63195600-63197400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:63195800-63198800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:63196000-63197800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:63196000-63198800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:63196000-63198800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63196000-63200000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:63196000-63201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:63196000-63206600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:63196000-63206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:63196000-63206800	Weak transcription	Fetal Intestine Large	intestine
34	chr12:63196000-63206800	Weak transcription	Right Ventricle	heart
35	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:63196000-63225800	Weak transcription	Gastric	stomach
38	chr12:63196400-63201400	Weak transcription	HepG2	liver
39	chr12:63196400-63213600	Weak transcription	Fetal Intestine Small	intestine
40	chr12:63196800-63197400	Enhancers	Brain Angular Gyrus	brain
41	chr12:63197000-63198000	Enhancers	Brain Hippocampus Middle	brain
42	chr12:63197000-63198000	Enhancers	Brain Substantia Nigra	brain

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