Variant report

Variant	rs2652031
Chromosome Location	chr12:63199838-63199839
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62994530..62996807-chr12:63199626..63201267,3	MCF-7	breast:
2	chr12:63199599..63203021-chr12:63327294..63329908,3	MCF-7	breast:
3	chr12:63191798..63194501-chr12:63197059..63199870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11174642	0.82[CEU][hapmap]
rs11174645	0.82[CEU][hapmap]
rs11174646	0.82[CEU][hapmap]
rs11174647	0.82[CEU][hapmap]
rs11838276	0.82[CEU][hapmap]
rs17098298	0.82[CEU][hapmap]
rs17098311	0.82[CEU][hapmap]
rs17098313	0.82[CEU][hapmap]
rs17098314	0.82[CEU][hapmap]
rs17120354	0.82[CEU][hapmap]
rs2641550	0.82[AFR][1000 genomes]
rs2641553	0.83[MKK][hapmap]
rs2652028	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663955	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663959	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704758	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704759	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704763	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs478720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479646	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs510656	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs518285	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs536052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs593350	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs627273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs642388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134005	0.82[CEU][hapmap]
rs7303205	0.82[CEU][hapmap]

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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
2	chr12:63181200-63200400	Weak transcription	Lung	lung
3	chr12:63187800-63205200	Weak transcription	K562	blood
4	chr12:63187800-63206400	Weak transcription	Osteobl	bone
5	chr12:63187800-63206800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:63188000-63206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:63193000-63201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:63193400-63206800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:63195400-63206000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:63196000-63200000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:63196000-63201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:63196000-63206600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:63196000-63206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:63196000-63206800	Weak transcription	Fetal Intestine Large	intestine
20	chr12:63196000-63206800	Weak transcription	Right Ventricle	heart
21	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:63196000-63225800	Weak transcription	Gastric	stomach
24	chr12:63196400-63201400	Weak transcription	HepG2	liver
25	chr12:63196400-63213600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:63197400-63206600	Weak transcription	Brain Angular Gyrus	brain
27	chr12:63198000-63206000	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:63198000-63206600	Weak transcription	Brain Substantia Nigra	brain
29	chr12:63198200-63200000	Weak transcription	Ovary	ovary
30	chr12:63199200-63206600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:63199400-63201400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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