Variant report

Variant	rs186174
Chromosome Location	chr11:17298104-17298105
allele	A/C/G/T
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	MTA3	chr11:17297538-17298167	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:17297317-17298500	MCF10A-Er-Src	breast:	n/a	n/a
3	EGR1	chr11:17297631-17298329	ECC-1	luminal epithelium:	n/a	chr11:17297909-17297923 chr11:17298047-17298057 chr11:17297909-17297922 chr11:17297911-17297921 chr11:17298299-17298312 chr11:17297911-17297920 chr11:17297910-17297921
4	POLR2A	chr11:17297708-17298684	A549	lung:	n/a	n/a
5	REST	chr11:17297743-17299141	H1-neurons	neurons:	n/a	chr11:17298500-17298513 chr11:17298301-17298311 chr11:17298339-17298352 chr11:17298339-17298352 chr11:17298085-17298098
6	RCOR1	chr11:17297166-17299181	K562	blood:	n/a	n/a
7	POLR2A	chr11:17297757-17298203	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr11:17297905-17298212	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:17297695-17298165	HUVEC	blood vessel:	n/a	n/a
10	GABPA	chr11:17297837-17298237	A549	lung:	n/a	n/a
11	POLR2A	chr11:17297782-17298479	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:17297919-17298216	H1-hESC	embryonic stem cell:	n/a	n/a
13	IRF1	chr11:17297453-17298430	K562	blood:	n/a	chr11:17297578-17297585
14	TAF1	chr11:17297532-17298691	K562	blood:	n/a	n/a
15	ZNF143	chr11:17297932-17298282	K562	blood:	n/a	n/a
16	EP300	chr11:17297806-17298478	HepG2	liver:	n/a	n/a
17	TBP	chr11:17297957-17298211	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:17297696-17298809	GM19099	blood:	n/a	n/a
19	NRF1	chr11:17297863-17298328	GM12878	blood:	n/a	chr11:17298263-17298272 chr11:17298265-17298274
20	ATF2	chr11:17297511-17298222	GM12878	blood:	n/a	n/a
21	MAX	chr11:17297647-17298674	MCF-7	breast:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
22	CCNT2	chr11:17297699-17298813	K562	blood:	n/a	chr11:17298432-17298452 chr11:17298425-17298434
23	E2F1	chr11:17297734-17298444	Hela-S3	cervix:	n/a	chr11:17298302-17298312
24	MAX	chr11:17297720-17299191	Hela-S3	cervix:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
25	STAT1	chr11:17297861-17298361	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:17297772-17298538	MCF-7	breast:	n/a	n/a
27	YY1	chr11:17297673-17298638	K562	blood:	n/a	chr11:17298339-17298353 chr11:17297920-17297934 chr11:17298476-17298495
28	POLR2A	chr11:17297658-17298789	HUVEC	blood vessel:	n/a	n/a
29	STAT5A	chr11:17297591-17298167	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:17297631-17298470	GM12891	blood:	n/a	n/a
31	CTCF	chr11:17298100-17298250	GM12878	blood:	n/a	n/a
32	MYC	chr11:17296881-17299148	NB4	blood:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
33	E2F6	chr11:17297688-17298562	K562	blood:	n/a	chr11:17297826-17297837 chr11:17298302-17298312 chr11:17298504-17298519
34	TAF1	chr11:17297656-17299034	H1-neurons	neurons:	n/a	n/a
35	RCOR1	chr11:17297837-17298854	HepG2	liver:	n/a	n/a
36	FOXM1	chr11:17297679-17298467	MCF-7	breast:	n/a	n/a
37	FOS	chr11:17298056-17298252	MCF10A-Er-Src	breast:	n/a	chr11:17298209-17298218
38	YY1	chr11:17297756-17298558	ECC-1	luminal epithelium:	n/a	chr11:17298339-17298353 chr11:17297920-17297934 chr11:17298476-17298495
39	RCOR1	chr11:17297343-17298380	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:17297653-17298878	GM12878	blood:	n/a	n/a
41	MAX	chr11:17297497-17298602	K562	blood:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
42	NR2F2	chr11:17297343-17298889	K562	blood:	n/a	n/a
43	HDAC2	chr11:17297649-17298362	MCF-7	breast:	n/a	n/a
44	RUNX3	chr11:17297477-17298389	GM12878	blood:	n/a	chr11:17297767-17297784
45	POLR2A	chr11:17297447-17298901	K562	blood:	n/a	n/a
46	NFIC	chr11:17297809-17298368	HepG2	liver:	n/a	n/a
47	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
48	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
49	POLR2A	chr11:17297594-17298317	GM12891	blood:	n/a	n/a
50	BACH1	chr11:17297732-17298136	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17298064-17298114	HRE	kidney:	n/a
2	chr11:17298064-17298114	PrEC	prostate:	n/a
3	chr11:17298064-17298114	Jurkat	blood:	n/a
4	chr11:17298064-17298114	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:17298064-17298114	NHBE	bronchial:	n/a
6	chr11:17298064-17298114	MCF10A-Er-Src	breast:	n/a
7	chr11:17298064-17298114	CMK	blood:	n/a
8	chr11:17298064-17298114	AoSMC	blood vessel:	n/a
9	chr11:17298064-17298114	HepG2	liver:	n/a
10	chr11:17298064-17298114	SKMC	muscle:	n/a
11	chr11:17298064-17298114	T-47D	breast:	n/a
12	chr11:17298064-17298114	HCT-116	colon:	n/a
13	chr11:17298064-17298114	ProgFib	skin:	n/a
14	chr11:17298064-17298114	GM12891	blood:	n/a
15	chr11:17298064-17298114	SK-N-SH_RA	brain:	n/a
16	chr11:17298064-17298114	GM12878	blood:	n/a
17	chr11:17298064-17298114	PFSK-1	brain:	n/a
18	chr11:17298064-17298114	AG09319	gingival:	n/a
19	chr11:17298064-17298114	AG04450	lung:	fetal
20	chr11:17298064-17298114	HL-60	blood:	n/a
21	chr11:17298064-17298114	Caco-2	colon:	n/a
22	chr11:17298064-17298114	HAEpiC	amniotic membrane:	n/a
23	chr11:17298064-17298114	NB4	blood:	n/a
24	chr11:17298064-17298114	ovcar-3	ovarian:	n/a
25	chr11:17298064-17298114	GM06990	blood:	n/a
26	chr11:17298064-17298114	IMR90	lung:	fetal
27	chr11:17298064-17298114	HRCEpiC	kidney:	n/a
28	chr11:17298064-17298114	NHDF-neo	bronchial:	n/a
29	chr11:17298064-17298114	PANC-1	pancreas:	n/a
30	chr11:17298064-17298114	GM19239	blood:	n/a
31	chr11:17298064-17298114	HEEpiC	esophagus:	n/a
32	chr11:17298064-17298114	HIPEpiC	eye:	n/a
33	chr11:17298064-17298114	HNPCEpiC	eye:	n/a
34	chr11:17298064-17298114	AG04449	skin:	fetal
35	chr11:17298064-17298114	RPTEC	kidney:	n/a
36	chr11:17298064-17298114	Hepatocyte	liver:	n/a
37	chr11:17298064-17298114	HCM	heart:	n/a
38	chr11:17298064-17298114	AG09309	skin:	n/a
39	chr11:17298064-17298114	A549	lung:	n/a
40	chr11:17298064-17298114	HMEC	breast:	n/a
41	chr11:17298064-17298114	SK-N-SH	brain:	n/a
42	chr11:17298064-17298114	U87	brain:	n/a
43	chr11:17298064-17298114	AG10803	skin:	n/a
44	chr11:17298064-17298114	HCF	heart:	n/a
45	chr11:17298064-17298114	HRPEpiC	eye:	n/a
46	chr11:17298064-17298114	K562	blood:	n/a
47	chr11:17298064-17298114	LNCaP	prostate:	n/a
48	chr11:17298064-17298114	HCPEpiC	choroid plexus:	n/a
49	chr11:17298064-17298114	H1-hESC	embryonic stem cell:	embryo
50	chr11:17298064-17298114	BJ	skin:	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	chr11:17297507..17298318-chr9:140135332..140136049,2	NB4	blood:

Variant related genes	Relation type
NUCB2	TF binding region
NUCB2	CpG island
ENSG00000070081	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000201403	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10832741	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832742	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024165	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024196	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024198	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273798	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285874	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214905	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214908	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757497	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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

No data

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	chr11:17297400-17298200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr11:17297400-17298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:17297400-17298600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:17297400-17298600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:17297400-17298800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:17297400-17299200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:17297400-17299400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:17297400-17299400	Active TSS	Brain Angular Gyrus	brain
11	chr11:17297600-17298200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr11:17297600-17298200	Flanking Active TSS	HMEC	breast
13	chr11:17297600-17298600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:17297600-17298600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:17297600-17298800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:17297600-17298800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:17297600-17298800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:17297600-17298800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:17297600-17298800	Active TSS	Fetal Lung	lung
20	chr11:17297600-17299000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:17297600-17299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:17297600-17299000	Active TSS	Aorta	Aorta
23	chr11:17297600-17299000	Active TSS	Fetal Brain Female	brain
24	chr11:17297600-17299000	Active TSS	Left Ventricle	heart
25	chr11:17297600-17299000	Active TSS	Ovary	ovary
26	chr11:17297600-17299000	Active TSS	Pancreas	Pancrea
27	chr11:17297600-17299000	Active TSS	HSMM	muscle
28	chr11:17297600-17299200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:17297600-17299200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:17297600-17299200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:17297600-17299200	Active TSS	Colonic Mucosa	Colon
32	chr11:17297600-17299200	Active TSS	Colon Smooth Muscle	Colon
33	chr11:17297600-17299200	Active TSS	Fetal Stomach	stomach
34	chr11:17297600-17299200	Active TSS	Psoas Muscle	Psoas
35	chr11:17297600-17299200	Active TSS	Right Atrium	heart
36	chr11:17297600-17299200	Active TSS	Right Ventricle	heart
37	chr11:17297600-17299400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:17297600-17299400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:17297600-17299400	Active TSS	Brain Germinal Matrix	brain
40	chr11:17297600-17299400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:17297800-17298200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:17297800-17298600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:17297800-17298600	Active TSS	Liver	Liver
44	chr11:17297800-17298800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:17297800-17298800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:17297800-17298800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:17297800-17298800	Active TSS	Primary T cells from cord blood	blood
48	chr11:17297800-17298800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:17297800-17298800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:17297800-17298800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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