Variant report

Variant	rs214085
Chromosome Location	chr11:17298656-17298657
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17097827..17101102-chr11:17296839..17299555,4	K562	blood:
2	chr11:17229045..17230754-chr11:17298034..17300385,2	MCF-7	breast:
3	chr11:17297082..17301177-chr11:17313853..17317788,6	K562	blood:
4	chr11:17097070..17101102-chr11:17296326..17299484,3	K562	blood:
5	chr11:17289393..17293255-chr11:17296129..17299283,5	K562	blood:
6	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:
7	chr11:17229425..17232064-chr11:17297458..17300131,2	K562	blood:
8	chr11:17296907..17298912-chr11:17352213..17353767,2	K562	blood:
9	chr11:17297568..17298688-chr6:26123742..26124744,3	Hela-S3	cervix:
10	chr11:14541378..14542196-chr11:17298214..17298716,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000180573	Chromatin interaction
ENSG00000256206	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000129084	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000201403	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000180596	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs105290	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10766382	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10832750	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10832752	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024220	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024221	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024223	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024229	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024231	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12276859	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1488933	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs190046	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1979603	0.84[ASN][1000 genomes]
rs214067	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs214069	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214071	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214075	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214076	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214079	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214081	0.86[ASN][1000 genomes]
rs214082	0.86[ASN][1000 genomes]
rs214083	0.88[ASN][1000 genomes]
rs214084	0.88[ASN][1000 genomes]
rs214087	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214088	0.86[ASN][1000 genomes]
rs214092	0.86[ASN][1000 genomes]
rs214093	0.86[ASN][1000 genomes]
rs214094	0.82[ASN][1000 genomes]
rs214095	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214097	0.85[ASN][1000 genomes]
rs214099	0.82[ASN][1000 genomes]
rs214101	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214102	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214907	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214923	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4508187	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7108315	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7108316	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7128822	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7342262	0.84[ASN][1000 genomes]
rs7925692	0.81[ASN][1000 genomes]
rs7937176	0.81[ASN][1000 genomes]
rs7940253	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs214085	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs214085	OR7E14P	cis	Nerve Tibial	GTEx
rs214085	OR7E14P	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17297000-17299200	Active TSS	Fetal Kidney	kidney
2	chr11:17297000-17299200	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:17297400-17298800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17297400-17299200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:17297400-17299400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:17297400-17299400	Active TSS	Brain Angular Gyrus	brain
7	chr11:17297600-17298800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr11:17297600-17298800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:17297600-17298800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:17297600-17298800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:17297600-17298800	Active TSS	Fetal Lung	lung
12	chr11:17297600-17299000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:17297600-17299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:17297600-17299000	Active TSS	Aorta	Aorta
15	chr11:17297600-17299000	Active TSS	Fetal Brain Female	brain
16	chr11:17297600-17299000	Active TSS	Left Ventricle	heart
17	chr11:17297600-17299000	Active TSS	Ovary	ovary
18	chr11:17297600-17299000	Active TSS	Pancreas	Pancrea
19	chr11:17297600-17299000	Active TSS	HSMM	muscle
20	chr11:17297600-17299200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:17297600-17299200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:17297600-17299200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:17297600-17299200	Active TSS	Colonic Mucosa	Colon
24	chr11:17297600-17299200	Active TSS	Colon Smooth Muscle	Colon
25	chr11:17297600-17299200	Active TSS	Fetal Stomach	stomach
26	chr11:17297600-17299200	Active TSS	Psoas Muscle	Psoas
27	chr11:17297600-17299200	Active TSS	Right Atrium	heart
28	chr11:17297600-17299200	Active TSS	Right Ventricle	heart
29	chr11:17297600-17299400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:17297600-17299400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:17297600-17299400	Active TSS	Brain Germinal Matrix	brain
32	chr11:17297600-17299400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:17297800-17298800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:17297800-17298800	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:17297800-17298800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:17297800-17298800	Active TSS	Primary T cells from cord blood	blood
37	chr11:17297800-17298800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:17297800-17298800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:17297800-17298800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:17297800-17298800	Active TSS	Brain Cingulate Gyrus	brain
41	chr11:17297800-17298800	Active TSS	Fetal Heart	heart
42	chr11:17297800-17298800	Active TSS	Hela-S3	cervix
43	chr11:17297800-17298800	Active TSS	K562	blood
44	chr11:17297800-17298800	Active TSS	Osteobl	bone
45	chr11:17297800-17299000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:17297800-17299000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:17297800-17299000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:17297800-17299000	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:17297800-17299000	Active TSS	Brain Hippocampus Middle	brain
50	chr11:17297800-17299000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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