Variant report

Variant	rs12166755
Chromosome Location	chr22:30344171-30344172
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	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10222281	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090584	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11090591	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090592	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11090597	0.81[AMR][1000 genomes]
rs11703553	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11703815	0.82[EUR][1000 genomes]
rs11704206	0.83[ASN][1000 genomes]
rs11704885	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11705048	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11705191	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11705207	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11705418	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12158466	0.80[CHB][hapmap]
rs12159277	0.80[CHB][hapmap]
rs12165769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166998	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12169823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12330007	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12330076	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12627856	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627866	0.80[CHB][hapmap]
rs12627944	0.87[ASN][1000 genomes]
rs12628395	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12628545	0.80[CHB][hapmap]
rs14115	0.80[CHB][hapmap]
rs16988049	0.80[CHB][hapmap]
rs17644868	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17644886	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17647135	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17711461	0.80[CHB][hapmap]
rs17711508	0.80[CHB][hapmap]
rs17713646	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240364	0.80[CHB][hapmap]
rs2240365	0.80[CHB][hapmap]
rs2240366	0.80[CHB][hapmap]
rs28520101	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28635872	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34647160	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747148	0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997520	0.80[CHB][hapmap]
rs7285169	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7285800	0.80[CHB][hapmap]
rs737905	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs739615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs740116	0.80[CHB][hapmap]
rs916782	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9614123	1.00[JPT][hapmap]
rs9620928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620936	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620944	0.81[AMR][1000 genomes]
rs9620948	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625883	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625886	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625894	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625895	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625896	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625899	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625910	0.81[AMR][1000 genomes]
rs9625914	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625924	0.81[AFR][1000 genomes]
rs9625930	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
2	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
4	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
6	chr22:30340000-30344800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:30340000-30345000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr22:30340000-30345000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr22:30340000-30346800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:30340200-30344200	Weak transcription	Right Ventricle	heart
11	chr22:30340200-30351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:30340200-30355400	Weak transcription	Fetal Intestine Small	intestine
13	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
14	chr22:30340600-30347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:30340600-30347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr22:30340600-30347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr22:30340800-30350400	Weak transcription	Stomach Mucosa	stomach
21	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:30341200-30345400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:30341200-30352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:30341200-30353600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:30341400-30344800	Weak transcription	Lung	lung
26	chr22:30341400-30346600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr22:30341400-30348000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr22:30341400-30351000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr22:30341400-30354400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:30341400-30355200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:30341600-30344200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:30341600-30344600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr22:30341800-30347600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr22:30342000-30344600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr22:30342000-30344600	Enhancers	Brain Substantia Nigra	brain
36	chr22:30342200-30344600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:30342200-30344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:30342200-30345000	Enhancers	Brain Angular Gyrus	brain
39	chr22:30342200-30345200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr22:30342400-30344800	Weak transcription	Left Ventricle	heart
41	chr22:30342600-30344800	Weak transcription	Ovary	ovary
42	chr22:30342600-30345000	Weak transcription	Psoas Muscle	Psoas
43	chr22:30342600-30345800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:30342600-30350400	Weak transcription	Aorta	Aorta
45	chr22:30342600-30350400	Weak transcription	Right Atrium	heart
46	chr22:30342600-30352200	Weak transcription	Gastric	stomach
47	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
48	chr22:30342800-30344800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:30343000-30344600	Enhancers	Osteobl	bone
50	chr22:30343000-30344800	Enhancers	Duodenum Smooth Muscle	Duodenum

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