Variant report

Variant	rs1167721
Chromosome Location	chr12:120977818-120977819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120883792..120886364-chr12:120977531..120979242,2	MCF-7	breast:
2	chr12:120975914..120977985-chr12:120980221..120984340,3	K562	blood:
3	chr12:120933763..120935327-chr12:120976647..120978443,2	MCF-7	breast:
4	chr12:120727845..120730639-chr12:120977473..120979829,2	K562	blood:
5	chr12:120904864..120906819-chr12:120975505..120978250,2	K562	blood:
6	chr12:120965545..120968418-chr12:120976359..120978449,2	K562	blood:
7	chr12:120956241..120958725-chr12:120976597..120979586,2	MCF-7	breast:
8	chr12:120971037..120975304-chr12:120975944..120978550,4	MCF-7	breast:
9	chr12:120974815..120979080-chr12:120980221..120984438,7	K562	blood:
10	chr12:120932415..120935413-chr12:120975182..120978134,3	K562	blood:
11	chr12:120965752..120968769-chr12:120974337..120978260,3	MCF-7	breast:
12	chr12:120936251..120938670-chr12:120977737..120980679,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000088986	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000257218	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1037611	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774550	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774557	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774558	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774559	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849756	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849760	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849762	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849764	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065144	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11065147	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065157	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065158	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065163	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065164	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151845	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1151846	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1167688	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1167696	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167699	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167701	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167702	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167704	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167705	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167706	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167713	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167714	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167715	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167716	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1167720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1167724	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1179460	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1179462	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1179463	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179464	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179465	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12227470	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12369178	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370706	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1592361	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1671762	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1671765	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1671766	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1671769	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1710130	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1710132	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1710142	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1710143	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1710144	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1710146	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1794751	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1794752	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235223	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292680	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2301456	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2673623	0.81[ASN][1000 genomes]
rs2673624	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2673625	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28390349	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3088345	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35801170	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3847971	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767898	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs496370	0.83[EUR][1000 genomes]
rs526176	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs606443	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs634688	0.86[EUR][1000 genomes]
rs667913	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs671566	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs680795	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7135855	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307666	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787818	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs787821	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787822	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787823	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787826	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs787828	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787830	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787831	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787833	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787834	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963890	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972060	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812560	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8903	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9669663	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1167721	POP5	Cis_1M	lymphoblastoid	RTeQTL
rs1167721	RNF10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr12:120973400-120984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:120973800-120984000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:120974200-120978600	Genic enhancers	Fetal Muscle Leg	muscle
5	chr12:120974400-120984200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120974600-120978600	Genic enhancers	Fetal Intestine Small	intestine
7	chr12:120974600-120979000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:120974600-120979400	Genic enhancers	K562	blood
9	chr12:120974600-120984000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:120974800-120978200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:120975200-120980000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:120975200-120982400	Enhancers	Pancreas	Pancrea
13	chr12:120975200-120985200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:120975600-120978600	Enhancers	Small Intestine	intestine
15	chr12:120975800-120978600	Enhancers	HSMM	muscle
16	chr12:120976000-120978600	Enhancers	NHDF-Ad	bronchial
17	chr12:120976000-120979200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:120976000-120980000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:120976200-120984200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:120976200-120984600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:120976400-120978000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:120976400-120978000	Enhancers	Placenta	Placenta
24	chr12:120976400-120978600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:120976400-120979800	Enhancers	Fetal Heart	heart
26	chr12:120976400-120980200	Enhancers	Ovary	ovary
27	chr12:120976400-120983200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:120976400-120984200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:120976400-120984200	Weak transcription	Aorta	Aorta
30	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:120976600-120978200	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:120976600-120978600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr12:120976600-120978600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:120976600-120979200	Enhancers	NHLF	lung
35	chr12:120976600-120979800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:120976600-120980800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:120976600-120982000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:120976600-120982200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:120976600-120983400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:120976600-120983600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:120976600-120984200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:120976800-120978000	Enhancers	Right Atrium	heart
43	chr12:120976800-120978400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:120976800-120978400	Enhancers	Adipose Nuclei	Adipose
45	chr12:120976800-120978600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:120976800-120978600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:120976800-120978600	Enhancers	Brain Anterior Caudate	brain
48	chr12:120976800-120978600	Strong transcription	Thymus	Thymus
49	chr12:120976800-120979200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr12:120976800-120979200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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