Variant report

Variant	rs214087
Chromosome Location	chr11:17298365-17298366
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17297317-17298500	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:17297708-17298684	A549	lung:	n/a	n/a
3	REST	chr11:17297743-17299141	H1-neurons	neurons:	n/a	chr11:17298500-17298513 chr11:17298301-17298311 chr11:17298339-17298352 chr11:17298339-17298352 chr11:17298085-17298098
4	RCOR1	chr11:17297166-17299181	K562	blood:	n/a	n/a
5	POLR2A	chr11:17297782-17298479	HepG2	liver:	n/a	n/a
6	IRF1	chr11:17297453-17298430	K562	blood:	n/a	chr11:17297578-17297585
7	TAF1	chr11:17297532-17298691	K562	blood:	n/a	n/a
8	EP300	chr11:17297806-17298478	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:17297696-17298809	GM19099	blood:	n/a	n/a
10	MAX	chr11:17297647-17298674	MCF-7	breast:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
11	CCNT2	chr11:17297699-17298813	K562	blood:	n/a	chr11:17298432-17298452 chr11:17298425-17298434
12	E2F1	chr11:17297734-17298444	Hela-S3	cervix:	n/a	chr11:17298302-17298312
13	MAX	chr11:17297720-17299191	Hela-S3	cervix:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
14	POLR2A	chr11:17297772-17298538	MCF-7	breast:	n/a	n/a
15	YY1	chr11:17297673-17298638	K562	blood:	n/a	chr11:17298339-17298353 chr11:17297920-17297934 chr11:17298476-17298495
16	POLR2A	chr11:17297658-17298789	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:17297631-17298470	GM12891	blood:	n/a	n/a
18	MYC	chr11:17296881-17299148	NB4	blood:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
19	E2F6	chr11:17297688-17298562	K562	blood:	n/a	chr11:17297826-17297837 chr11:17298302-17298312 chr11:17298504-17298519
20	POLR2A	chr11:17298212-17298478	HepG2	liver:	n/a	n/a
21	TAF1	chr11:17297656-17299034	H1-neurons	neurons:	n/a	n/a
22	RCOR1	chr11:17297837-17298854	HepG2	liver:	n/a	n/a
23	FOXM1	chr11:17297679-17298467	MCF-7	breast:	n/a	n/a
24	YY1	chr11:17297756-17298558	ECC-1	luminal epithelium:	n/a	chr11:17298339-17298353 chr11:17297920-17297934 chr11:17298476-17298495
25	RCOR1	chr11:17297343-17298380	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:17297653-17298878	GM12878	blood:	n/a	n/a
27	MAX	chr11:17297497-17298602	K562	blood:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
28	NR2F2	chr11:17297343-17298889	K562	blood:	n/a	n/a
29	RUNX3	chr11:17297477-17298389	GM12878	blood:	n/a	chr11:17297767-17297784
30	POLR2A	chr11:17297447-17298901	K562	blood:	n/a	n/a
31	NFIC	chr11:17297809-17298368	HepG2	liver:	n/a	n/a
32	EGR1	chr11:17297595-17298393	MCF-7	breast:	n/a	chr11:17297909-17297923 chr11:17298047-17298057 chr11:17297909-17297922 chr11:17297911-17297921 chr11:17298299-17298312 chr11:17297911-17297920 chr11:17297910-17297921
33	NFYB	chr11:17297805-17298811	GM12878	blood:	n/a	chr11:17298207-17298217 chr11:17298204-17298216 chr11:17298173-17298188 chr11:17298205-17298220 chr11:17298205-17298220 chr11:17298202-17298217 chr11:17298170-17298185 chr11:17298205-17298219 chr11:17298173-17298187 chr11:17298173-17298188
34	TBP	chr11:17297605-17299011	K562	blood:	n/a	n/a
35	TAF1	chr11:17297533-17298887	K562	blood:	n/a	n/a
36	POU2F2	chr11:17297716-17298439	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:17297700-17298663	ProgFib	skin:	n/a	n/a
38	UBTF	chr11:17297712-17299132	K562	blood:	n/a	n/a
39	POLR2A	chr11:17297721-17298678	SK-N-SH	brain:	n/a	n/a
40	EGR1	chr11:17297576-17298423	ECC-1	luminal epithelium:	n/a	chr11:17297909-17297923 chr11:17298047-17298057 chr11:17297909-17297922 chr11:17298384-17298394 chr11:17297911-17297921 chr11:17298299-17298312 chr11:17297911-17297920 chr11:17297910-17297921
41	NFYB	chr11:17297804-17298689	K562	blood:	n/a	chr11:17298207-17298217 chr11:17298204-17298216 chr11:17298173-17298188 chr11:17298205-17298220 chr11:17298205-17298220 chr11:17298202-17298217 chr11:17298170-17298185 chr11:17298205-17298219 chr11:17298173-17298187 chr11:17298173-17298188
42	MAX	chr11:17298065-17298431	H1-hESC	embryonic stem cell:	n/a	chr11:17298239-17298248
43	IRF1	chr11:17297681-17298944	K562	blood:	n/a	chr11:17298502-17298516
44	MAX	chr11:17297307-17299245	A549	lung:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
45	POLR2A	chr11:17297508-17298669	U87	brain:	n/a	n/a
46	POLR2A	chr11:17296786-17299401	HL-60	blood:	n/a	n/a
47	EGR1	chr11:17297596-17298633	K562	blood:	n/a	chr11:17297909-17297923 chr11:17298047-17298057 chr11:17297909-17297922 chr11:17298384-17298394 chr11:17298503-17298513 chr11:17297911-17297921 chr11:17298299-17298312 chr11:17297911-17297920 chr11:17297910-17297921
48	UBTF	chr11:17297399-17299129	K562	blood:	n/a	n/a
49	POLR2A	chr11:17297503-17298945	Hela-S3	cervix:	n/a	n/a
50	NFYA	chr11:17297826-17298441	Hela-S3	cervix:	n/a	chr11:17298207-17298217 chr11:17298204-17298216 chr11:17298173-17298188 chr11:17298205-17298220 chr11:17298205-17298223 chr11:17298205-17298220 chr11:17298205-17298219 chr11:17298173-17298191 chr11:17298173-17298187 chr11:17298173-17298188

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17298347-17298397	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:17298347-17298397	AG09319	gingival:	n/a
3	chr11:17298347-17298397	GM12878	blood:	n/a
4	chr11:17298347-17298397	NT2-D1	testis:	n/a
5	chr11:17298347-17298397	HIPEpiC	eye:	n/a
6	chr11:17298347-17298397	U87	brain:	n/a
7	chr11:17298347-17298397	Hepatocyte	liver:	n/a
8	chr11:17298347-17298397	GM12892	blood:	n/a
9	chr11:17298347-17298397	NH-A	brain:	n/a
10	chr11:17298347-17298397	HRE	kidney:	n/a
11	chr11:17298347-17298397	HRPEpiC	eye:	n/a
12	chr11:17298347-17298397	BE2_C	brain:	n/a
13	chr11:17298347-17298397	LNCaP	prostate:	n/a
14	chr11:17298347-17298397	SAEC	small airway:	n/a
15	chr11:17298347-17298397	ECC-1	luminal epithelium:	n/a
16	chr11:17298347-17298397	NB4	blood:	n/a
17	chr11:17298347-17298397	GM06990	blood:	n/a
18	chr11:17298347-17298397	ovcar-3	ovarian:	n/a
19	chr11:17298347-17298397	HUVEC	blood vessel:	n/a
20	chr11:17298347-17298397	HCF	heart:	n/a
21	chr11:17298347-17298397	HCM	heart:	n/a
22	chr11:17298347-17298397	SKMC	muscle:	n/a
23	chr11:17298347-17298397	SK-N-MC	brain:	n/a
24	chr11:17298347-17298397	HAEpiC	amniotic membrane:	n/a
25	chr11:17298347-17298397	Jurkat	blood:	n/a
26	chr11:17298347-17298397	IMR90	lung:	fetal
27	chr11:17298347-17298397	Hela-S3	cervix:	n/a
28	chr11:17298347-17298397	AG04450	lung:	fetal
29	chr11:17298347-17298397	PFSK-1	brain:	n/a
30	chr11:17298347-17298397	HRCEpiC	kidney:	n/a
31	chr11:17298347-17298397	HNPCEpiC	eye:	n/a
32	chr11:17298347-17298397	NHBE	bronchial:	n/a
33	chr11:17298347-17298397	BJ	skin:	n/a
34	chr11:17298347-17298397	Caco-2	colon:	n/a
35	chr11:17298347-17298397	A549	lung:	n/a
36	chr11:17298347-17298397	H1-hESC	embryonic stem cell:	embryo
37	chr11:17298347-17298397	HMEC	breast:	n/a
38	chr11:17298347-17298397	HEEpiC	esophagus:	n/a
39	chr11:17298347-17298397	HCPEpiC	choroid plexus:	n/a
40	chr11:17298347-17298397	K562	blood:	n/a
41	chr11:17298347-17298397	SK-N-SH_RA	brain:	n/a
42	chr11:17298347-17298397	RPTEC	kidney:	n/a
43	chr11:17298347-17298397	AG09309	skin:	n/a
44	chr11:17298347-17298397	MCF10A-Er-Src	breast:	n/a
45	chr11:17298347-17298397	HL-60	blood:	n/a
46	chr11:17298347-17298397	ProgFib	skin:	n/a
47	chr11:17298347-17298397	SK-N-SH	brain:	n/a
48	chr11:17298347-17298397	MCF-7	breast:	n/a
49	chr11:17298347-17298397	AG04449	skin:	fetal
50	chr11:17298347-17298397	CMK	blood:	n/a

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.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1-239B22.1.1-2	chr11:17298287-17298395	NONHSAT018223
2	lnc-RP1-239B22.1.1-2	chr11:17298278-17298375	NONHSAT018222

Variant related genes	Relation type
NUCB2	TF binding region
NUCB2	CpG island
ENSG00000070081	Chromatin interaction
ENSG00000129084	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000256206	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000201403	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs105290	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766381	0.81[ASN][1000 genomes]
rs10766382	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10832750	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10832752	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024207	0.81[ASN][1000 genomes]
rs11024208	0.81[ASN][1000 genomes]
rs11024220	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024221	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024223	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024229	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024231	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12276859	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1488933	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs190046	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979603	0.85[ASN][1000 genomes]
rs214067	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs214069	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214071	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs214075	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214076	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214077	0.82[ASN][1000 genomes]
rs214079	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214080	0.83[ASN][1000 genomes]
rs214081	0.90[ASN][1000 genomes]
rs214082	0.90[ASN][1000 genomes]
rs214083	0.90[ASN][1000 genomes]
rs214084	0.90[ASN][1000 genomes]
rs214085	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214088	0.90[ASN][1000 genomes]
rs214092	0.90[ASN][1000 genomes]
rs214093	0.90[ASN][1000 genomes]
rs214094	0.86[ASN][1000 genomes]
rs214095	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214097	0.89[ASN][1000 genomes]
rs214099	0.86[ASN][1000 genomes]
rs214101	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214102	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214907	0.83[ASN][1000 genomes]
rs214923	0.83[ASN][1000 genomes]
rs4508187	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108315	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108316	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128822	0.80[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	0.82[EUR][1000 genomes];0.86[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
rs214087	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs214087	OR7E14P	cis	Esophagus Mucosa	GTEx
rs214087	OR7E14P	cis	Nerve Tibial	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	chr11:17297400-17298600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:17297400-17298600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:17297400-17298800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:17297400-17299200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:17297400-17299400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:17297400-17299400	Active TSS	Brain Angular Gyrus	brain
9	chr11:17297600-17298600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:17297600-17298600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:17297600-17298800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:17297600-17298800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:17297600-17298800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:17297600-17298800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:17297600-17298800	Active TSS	Fetal Lung	lung
16	chr11:17297600-17299000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:17297600-17299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:17297600-17299000	Active TSS	Aorta	Aorta
19	chr11:17297600-17299000	Active TSS	Fetal Brain Female	brain
20	chr11:17297600-17299000	Active TSS	Left Ventricle	heart
21	chr11:17297600-17299000	Active TSS	Ovary	ovary
22	chr11:17297600-17299000	Active TSS	Pancreas	Pancrea
23	chr11:17297600-17299000	Active TSS	HSMM	muscle
24	chr11:17297600-17299200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:17297600-17299200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:17297600-17299200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:17297600-17299200	Active TSS	Colonic Mucosa	Colon
28	chr11:17297600-17299200	Active TSS	Colon Smooth Muscle	Colon
29	chr11:17297600-17299200	Active TSS	Fetal Stomach	stomach
30	chr11:17297600-17299200	Active TSS	Psoas Muscle	Psoas
31	chr11:17297600-17299200	Active TSS	Right Atrium	heart
32	chr11:17297600-17299200	Active TSS	Right Ventricle	heart
33	chr11:17297600-17299400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:17297600-17299400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:17297600-17299400	Active TSS	Brain Germinal Matrix	brain
36	chr11:17297600-17299400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:17297800-17298600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:17297800-17298600	Active TSS	Liver	Liver
39	chr11:17297800-17298800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:17297800-17298800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr11:17297800-17298800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:17297800-17298800	Active TSS	Primary T cells from cord blood	blood
43	chr11:17297800-17298800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:17297800-17298800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:17297800-17298800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:17297800-17298800	Active TSS	Brain Cingulate Gyrus	brain
47	chr11:17297800-17298800	Active TSS	Fetal Heart	heart
48	chr11:17297800-17298800	Active TSS	Hela-S3	cervix
49	chr11:17297800-17298800	Active TSS	K562	blood
50	chr11:17297800-17298800	Active TSS	Osteobl	bone

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