Variant report

Variant	rs214076
Chromosome Location	chr11:17300257-17300258
allele	A/G
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:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs105290	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766381	0.81[ASN][1000 genomes]
rs10766382	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10832750	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10832752	0.88[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024158	0.83[CHD][hapmap]
rs11024204	0.84[CHB][hapmap];0.83[CHD][hapmap]
rs11024207	0.81[ASN][1000 genomes]
rs11024208	0.81[ASN][1000 genomes]
rs11024220	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024221	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024223	0.94[ASW][hapmap];0.84[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024229	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024231	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12276859	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1488933	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs190046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979603	0.85[ASN][1000 genomes]
rs214067	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214069	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214071	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214075	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214077	0.82[ASN][1000 genomes]
rs214079	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214080	0.83[ASN][1000 genomes]
rs214081	0.90[ASN][1000 genomes]
rs214082	0.84[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs214083	0.84[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs214084	0.88[ASN][1000 genomes]
rs214085	0.89[AFR][1000 genomes];1.00[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	0.83[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs214093	0.84[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs214094	0.84[ASN][1000 genomes]
rs214095	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214097	0.84[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs214099	0.84[ASN][1000 genomes]
rs214101	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214102	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214900	0.83[CHD][hapmap]
rs214901	0.83[CHD][hapmap]
rs214907	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214910	0.84[CHB][hapmap];0.83[CHD][hapmap]
rs214914	0.82[CHB][hapmap]
rs214923	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214925	0.84[CHB][hapmap];0.83[CHD][hapmap]
rs214933	0.83[CHD][hapmap]
rs214936	0.83[CHD][hapmap]
rs214940	0.83[CHD][hapmap]
rs4508187	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs603618	0.84[CHB][hapmap]
rs618331	0.84[CHB][hapmap]
rs677540	0.83[CHD][hapmap]
rs7108315	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108316	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7123301	0.83[CHD][hapmap]
rs7128822	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7342262	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs7925692	0.84[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs7937176	0.83[ASN][1000 genomes]
rs7940253	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7949699	0.83[CHB][hapmap]

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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs214076	NUCB2	cis	cerebellum	SCAN
rs214076	TMEM86A	cis	parietal	SCAN
rs214076	OR7E14P	cis	Nerve Tibial	GTEx
rs214076	NUCB2	cis	multi-tissue	Pritchard
rs214076	OR7E14P	cis	Esophagus Mucosa	GTEx
rs214076	NUCB2	cis	lymphoblastoid	seeQTL
rs214076	NUCB2	cis	Lymphoblastoid	GTEx
rs214076	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	chr11:17298000-17300800	Active TSS	Primary T cells fromperipheralblood	blood
2	chr11:17298000-17301200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr11:17298000-17302000	Active TSS	Thymus	Thymus
4	chr11:17299000-17300400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr11:17299000-17301000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:17299000-17301400	Weak transcription	Pancreas	Pancrea
7	chr11:17299000-17301600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:17299000-17302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:17299000-17307200	Weak transcription	Left Ventricle	heart
10	chr11:17299000-17307400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:17299000-17307600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:17299000-17307600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:17299000-17307600	Weak transcription	Lung	lung
14	chr11:17299000-17316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
16	chr11:17299000-17323200	Weak transcription	Ovary	ovary
17	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
18	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
21	chr11:17299200-17300400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:17299200-17301400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:17299200-17301400	Weak transcription	Stomach Mucosa	stomach
24	chr11:17299200-17301800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:17299200-17302200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:17299200-17302200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:17299200-17302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:17299200-17305600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:17299200-17305600	Weak transcription	Fetal Stomach	stomach
30	chr11:17299200-17306000	Weak transcription	Placenta	Placenta
31	chr11:17299200-17307400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:17299200-17307400	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:17299200-17307600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:17299200-17307600	Weak transcription	Psoas Muscle	Psoas
35	chr11:17299200-17307600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:17299200-17307600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:17299200-17310400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:17299200-17317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:17299200-17317800	Weak transcription	Right Ventricle	heart
40	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
41	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
44	chr11:17299400-17300400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:17299400-17300600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:17299400-17301000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:17299400-17301200	Weak transcription	NHEK	skin
48	chr11:17299400-17301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:17299400-17301600	Enhancers	Fetal Heart	heart
50	chr11:17299400-17301800	Weak transcription	HepG2	liver

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