Variant report

Variant	rs11182996
Chromosome Location	chr12:45749803-45749804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45608086..45610332-chr12:45748571..45750861,2	K562	blood:
2	chr12:45717384..45719924-chr12:45748264..45750670,2	MCF-7	breast:
3	chr12:45749106..45751356-chr12:46123739..46125901,2	MCF-7	breast:
4	chr12:45617264..45618883-chr12:45748114..45750683,2	MCF-7	breast:
5	chr12:45608849..45610390-chr12:45749416..45752172,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10431612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785569	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880775	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880777	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880782	0.84[CHB][hapmap]
rs11182983	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182986	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182988	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182989	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182990	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182991	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183007	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183010	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183011	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183013	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183017	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183021	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183023	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183027	0.84[CHB][hapmap]
rs11183029	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183037	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183038	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183042	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11533629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11543435	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11553695	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11612092	0.85[CHB][hapmap]
rs12228410	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12231770	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12297071	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812732	0.85[CHB][hapmap]
rs12818836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12819619	0.84[CHB][hapmap]
rs12829186	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13378014	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17095868	0.85[CHB][hapmap]
rs1863549	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1913696	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2090230	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2162322	0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34321530	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34547270	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35168706	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35213944	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35847979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803178	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3803179	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58640880	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71461108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308092	0.90[CHB][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:45739200-45752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:45741000-45752000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:45742600-45750600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:45744200-45750800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:45744200-45751000	Weak transcription	Right Atrium	heart
15	chr12:45744800-45750200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
17	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:45745000-45751000	Weak transcription	Fetal Heart	heart
19	chr12:45745000-45751200	Weak transcription	NHDF-Ad	bronchial
20	chr12:45745000-45751800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:45745000-45753800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:45745000-45754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
24	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
25	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
27	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:45745000-45779800	Weak transcription	Gastric	stomach
29	chr12:45745200-45751000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:45745200-45751200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:45745200-45751200	Weak transcription	Osteobl	bone
32	chr12:45745200-45751800	Weak transcription	Fetal Brain Female	brain
33	chr12:45745200-45751800	Weak transcription	NHLF	lung
34	chr12:45745200-45755200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:45745200-45755800	Weak transcription	HSMM	muscle
36	chr12:45745200-45756600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:45745400-45750600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:45745400-45750800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:45745400-45751000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:45745400-45754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:45745400-45755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
43	chr12:45745600-45750800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:45745600-45750800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:45745600-45751800	Weak transcription	Right Ventricle	heart
46	chr12:45745600-45755400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:45745600-45755800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
49	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:45745800-45750800	Weak transcription	Stomach Smooth Muscle	stomach

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