Variant report

Variant	rs140111
Chromosome Location	chr22:30131570-30131571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30130941..30133818-chr22:30144985..30147499,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs105311	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131259	0.87[AMR][1000 genomes]
rs131260	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs131261	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131262	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs131263	0.97[ASN][1000 genomes]
rs131264	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs131266	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs131267	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs131268	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs131270	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs131271	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131272	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131273	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131274	0.92[ASN][1000 genomes]
rs131275	0.80[AMR][1000 genomes]
rs131277	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131279	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131281	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131282	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131284	0.86[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs131285	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131286	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131287	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs131301	0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs140094	0.82[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs140095	0.95[ASN][1000 genomes]
rs140096	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140097	0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140099	0.96[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs140100	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs140101	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs140102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs140103	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs140104	0.82[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs140106	0.96[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs140107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs140110	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs140113	0.96[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs140114	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs140117	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs140118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs140119	0.86[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140120	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs140121	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs140122	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs140124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs140126	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs140127	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140128	0.96[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs140129	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs140131	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140133	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140145	0.87[CHB][hapmap]
rs140149	0.87[CHB][hapmap]
rs2074706	0.88[CHB][hapmap]
rs2074707	0.88[CHB][hapmap]
rs249398	0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs36574	0.82[EUR][1000 genomes]
rs36576	0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs5752961	0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5752964	0.87[CHB][hapmap]
rs5763512	0.88[CHB][hapmap]
rs5997530	0.88[CHB][hapmap]
rs713656	0.88[CHB][hapmap]
rs713657	0.88[CHB][hapmap]
rs740041	0.88[CHB][hapmap]
rs81800	0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs9306465	0.88[CHB][hapmap]
rs9614055	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30117000-30137200	Weak transcription	HSMM	muscle
2	chr22:30117200-30133800	Weak transcription	Right Atrium	heart
3	chr22:30123000-30135400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:30123200-30131800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr22:30123200-30135800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:30123200-30137600	Weak transcription	Osteobl	bone
7	chr22:30123200-30142800	Weak transcription	Brain Substantia Nigra	brain
8	chr22:30123600-30133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:30123600-30134000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr22:30123600-30135600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:30123600-30146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:30123600-30147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr22:30123800-30136600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:30124600-30133600	Weak transcription	Fetal Lung	lung
15	chr22:30124600-30136600	Weak transcription	Primary B cells from cord blood	blood
16	chr22:30124800-30135200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:30125000-30135600	Weak transcription	Dnd41	blood
18	chr22:30125200-30131600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr22:30125400-30146200	Weak transcription	NHLF	lung
20	chr22:30125600-30132400	Strong transcription	Lung	lung
21	chr22:30125800-30132400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:30126000-30144600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:30126200-30132200	Strong transcription	Thymus	Thymus
24	chr22:30126400-30133800	Weak transcription	HSMMtube	muscle
25	chr22:30126600-30145200	Strong transcription	Primary T cells from cord blood	blood
26	chr22:30126800-30131800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:30127400-30131800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:30127600-30133400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:30127600-30134400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:30127600-30140600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:30127800-30135400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:30127800-30137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:30128200-30133800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:30128200-30136200	Weak transcription	Small Intestine	intestine
35	chr22:30128400-30135600	Weak transcription	HepG2	liver
36	chr22:30129000-30131600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr22:30129000-30131800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:30129000-30132400	Strong transcription	Gastric	stomach
39	chr22:30129000-30139200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr22:30129400-30139000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr22:30129400-30144600	Strong transcription	Liver	Liver
42	chr22:30129600-30132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr22:30129800-30132200	Strong transcription	Ovary	ovary
44	chr22:30129800-30133400	Weak transcription	Brain Hippocampus Middle	brain
45	chr22:30129800-30133400	Weak transcription	Fetal Thymus	thymus
46	chr22:30129800-30138600	Strong transcription	Left Ventricle	heart
47	chr22:30129800-30141000	Strong transcription	Fetal Stomach	stomach
48	chr22:30130000-30131600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:30130000-30131600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:30130000-30132200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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