Variant report

Variant	rs214079
Chromosome Location	chr11:17299868-17299869
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17229045..17230754-chr11:17298034..17300385,2	MCF-7	breast:
2	chr11:17297082..17301177-chr11:17313853..17317788,6	K562	blood:
3	chr11:17293894..17295404-chr11:17299540..17302043,2	K562	blood:
4	chr11:17298938..17303193-chr11:17304940..17310347,8	K562	blood:
5	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:
6	chr11:17229425..17232064-chr11:17297458..17300131,2	K562	blood:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs105290	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766381	0.81[ASN][1000 genomes]
rs10766382	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10832750	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10832752	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024207	0.81[ASN][1000 genomes]
rs11024208	0.81[ASN][1000 genomes]
rs11024220	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024221	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024223	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024229	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024231	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12276859	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1488933	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs190046	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979603	0.85[ASN][1000 genomes]
rs214067	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214069	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214071	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214075	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214076	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214077	0.82[ASN][1000 genomes]
rs214080	0.83[ASN][1000 genomes]
rs214081	0.90[ASN][1000 genomes]
rs214082	0.90[ASN][1000 genomes]
rs214083	0.88[ASN][1000 genomes]
rs214084	0.88[ASN][1000 genomes]
rs214085	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214087	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214088	0.88[ASN][1000 genomes]
rs214092	0.88[ASN][1000 genomes]
rs214093	0.88[ASN][1000 genomes]
rs214094	0.84[ASN][1000 genomes]
rs214095	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214097	0.86[ASN][1000 genomes]
rs214099	0.84[ASN][1000 genomes]
rs214101	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214102	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214907	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214923	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4508187	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108315	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108316	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7128822	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7342262	0.85[ASN][1000 genomes]
rs7925692	0.83[ASN][1000 genomes]
rs7937176	0.83[ASN][1000 genomes]
rs7940253	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1836937	chr11:17291499-17339127	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1799284	chr11:17299390-17343486	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1799280	chr11:17299390-17354775	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv1801731	chr11:17299390-17354775	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs214079	OR7E14P	cis	Nerve Tibial	GTEx
rs214079	OR7E14P	cis	Esophagus Mucosa	GTEx
rs214079	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17298000-17300000	Active TSS	Dnd41	blood
2	chr11:17298000-17300200	Active TSS	GM12878-XiMat	blood
3	chr11:17298000-17300800	Active TSS	Primary T cells fromperipheralblood	blood
4	chr11:17298000-17301200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr11:17298000-17302000	Active TSS	Thymus	Thymus
6	chr11:17299000-17300400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:17299000-17301000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:17299000-17301400	Weak transcription	Pancreas	Pancrea
9	chr11:17299000-17301600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:17299000-17302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:17299000-17307200	Weak transcription	Left Ventricle	heart
12	chr11:17299000-17307400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:17299000-17307600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:17299000-17307600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:17299000-17307600	Weak transcription	Lung	lung
16	chr11:17299000-17316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
18	chr11:17299000-17323200	Weak transcription	Ovary	ovary
19	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
20	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
23	chr11:17299200-17300400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:17299200-17301400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:17299200-17301400	Weak transcription	Stomach Mucosa	stomach
26	chr11:17299200-17301800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr11:17299200-17302200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:17299200-17302200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:17299200-17302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:17299200-17305600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:17299200-17305600	Weak transcription	Fetal Stomach	stomach
32	chr11:17299200-17306000	Weak transcription	Placenta	Placenta
33	chr11:17299200-17307400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:17299200-17307400	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:17299200-17307600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:17299200-17307600	Weak transcription	Psoas Muscle	Psoas
37	chr11:17299200-17307600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:17299200-17307600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:17299200-17310400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:17299200-17317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:17299200-17317800	Weak transcription	Right Ventricle	heart
42	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
43	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
46	chr11:17299400-17300200	Enhancers	Fetal Brain Male	brain
47	chr11:17299400-17300400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:17299400-17300600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:17299400-17301000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:17299400-17301200	Weak transcription	NHEK	skin

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