Variant report

Variant	rs35271178
Chromosome Location	chr11:17411020-17411021
allele	C/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	ZEB1	chr11:17410640-17411249	GM12878	blood:	n/a	chr11:17410714-17410726
2	UBTF	chr11:17410204-17411373	K562	blood:	n/a	n/a
3	CTCF	chr11:17410673-17411092	H1-hESC	embryonic stem cell:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
4	RAD21	chr11:17410736-17411219	A549	lung:	n/a	chr11:17410933-17410943 chr11:17410900-17410919
5	TBL1XR1	chr11:17411017-17411259	K562	blood:	n/a	n/a
6	EP300	chr11:17410992-17411421	H1-hESC	embryonic stem cell:	n/a	chr11:17411124-17411133
7	YY1	chr11:17410987-17411337	HepG2	liver:	n/a	chr11:17411148-17411159 chr11:17411126-17411135
8	SP1	chr11:17410709-17411481	A549	lung:	n/a	chr11:17410937-17410946 chr11:17410936-17410945 chr11:17410935-17410947 chr11:17410936-17410946 chr11:17410937-17410946 chr11:17411150-17411159 chr11:17410932-17410946 chr11:17411148-17411159 chr11:17410935-17410947 chr11:17410936-17410946
9	ELF1	chr11:17410684-17411389	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:17411004-17411113	A549	lung:	n/a	n/a
11	SRF	chr11:17410969-17411305	MCF-7	breast:	n/a	n/a
12	CCNT2	chr11:17410457-17411257	K562	blood:	n/a	chr11:17410936-17410945 chr11:17411150-17411159 chr11:17410891-17410900
13	SMC3	chr11:17410873-17411235	HepG2	liver:	n/a	chr11:17410901-17410915 chr11:17410933-17410943
14	NR2F2	chr11:17410704-17411450	MCF-7	breast:	n/a	n/a
15	RAD21	chr11:17410538-17411418	H1-hESC	embryonic stem cell:	n/a	chr11:17410933-17410943 chr11:17410900-17410919
16	ZNF143	chr11:17410760-17411217	K562	blood:	n/a	n/a
17	MAX	chr11:17410491-17411471	A549	lung:	n/a	n/a
18	SP1	chr11:17410997-17411324	K562	blood:	n/a	chr11:17411150-17411159 chr11:17411148-17411159
19	MAZ	chr11:17410178-17411511	IMR90	lung:	n/a	n/a
20	CHD2	chr11:17410797-17411243	GM12878	blood:	n/a	n/a
21	CEBPD	chr11:17410655-17411204	HepG2	liver:	n/a	n/a
22	CTCF	chr11:17410344-17411023	GM19238	blood:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
23	REST	chr11:17410658-17411537	H1-neurons	neurons:	n/a	chr11:17411465-17411478 chr11:17410933-17410946
24	POLR2A	chr11:17410600-17411256	H1-neurons	neurons:	n/a	n/a
25	JUND	chr11:17410964-17411332	A549	lung:	n/a	chr11:17411010-17411018
26	MYC	chr11:17410789-17411072	K562	blood:	n/a	n/a
27	SP1	chr11:17410809-17411434	H1-hESC	embryonic stem cell:	n/a	chr11:17410937-17410946 chr11:17410936-17410945 chr11:17410935-17410947 chr11:17410936-17410946 chr11:17410937-17410946 chr11:17411150-17411159 chr11:17410932-17410946 chr11:17411148-17411159 chr11:17410935-17410947 chr11:17410936-17410946
28	EGR1	chr11:17410829-17411273	H1-hESC	embryonic stem cell:	n/a	chr11:17410936-17410946 chr11:17410931-17410944 chr11:17411063-17411076 chr11:17410864-17410877
29	IRF1	chr11:17410734-17411294	K562	blood:	n/a	chr11:17410935-17410949
30	MXI1	chr11:17410935-17411219	Hela-S3	cervix:	n/a	chr11:17411136-17411151
31	EGR1	chr11:17410817-17411320	ECC-1	luminal epithelium:	n/a	chr11:17410936-17410946 chr11:17410931-17410944 chr11:17411063-17411076 chr11:17410864-17410877
32	HDAC2	chr11:17410975-17411361	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:17411014-17411316	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr11:17410666-17411463	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr11:17410726-17411347	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:17410988-17411227	ECC-1	luminal epithelium:	n/a	n/a
37	YY1	chr11:17410585-17411301	K562	blood:	n/a	chr11:17410862-17410873 chr11:17410936-17410945 chr11:17411148-17411159 chr11:17411126-17411135 chr11:17410933-17410947
38	YY1	chr11:17410981-17411904	H1-hESC	embryonic stem cell:	n/a	chr11:17411820-17411842 chr11:17411823-17411831 chr11:17411820-17411830 chr11:17411148-17411159 chr11:17411126-17411135 chr11:17411818-17411837
39	HNF4G	chr11:17410982-17411345	HepG2	liver:	n/a	n/a
40	CTCF	chr11:17410682-17411058	A549	lung:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
41	SRF	chr11:17410979-17411367	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr11:17410055-17411834	SK-N-SH	brain:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
43	GTF2F1	chr11:17410890-17411412	H1-hESC	embryonic stem cell:	n/a	n/a
44	BHLHE40	chr11:17410752-17411308	K562	blood:	n/a	chr11:17410931-17410947
45	HDAC2	chr11:17410975-17411239	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:17410695-17411076	IMR90	lung:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
47	POLR2A	chr11:17410966-17411154	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:17410663-17411167	GM12878	blood:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
49	CTCF	chr11:17410232-17411175	MCF-7	breast:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
50	POLR2A	chr11:17410994-17411275	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17411006-17411056	NHBE	bronchial:	n/a
2	chr11:17411006-17411056	GM19239	blood:	n/a
3	chr11:17411006-17411056	NB4	blood:	n/a
4	chr11:17411006-17411056	K562	blood:	n/a
5	chr11:17411006-17411056	SK-N-MC	brain:	n/a
6	chr11:17411006-17411056	ProgFib	skin:	n/a
7	chr11:17411006-17411056	HIPEpiC	eye:	n/a
8	chr11:17411006-17411056	AoSMC	blood vessel:	n/a
9	chr11:17411006-17411056	Hepatocyte	liver:	n/a
10	chr11:17411006-17411056	HCF	heart:	n/a
11	chr11:17411006-17411056	NH-A	brain:	n/a
12	chr11:17411006-17411056	HCT-116	colon:	n/a
13	chr11:17411006-17411056	RPTEC	kidney:	n/a
14	chr11:17411006-17411056	GM12892	blood:	n/a
15	chr11:17411006-17411056	HCM	heart:	n/a
16	chr11:17411006-17411056	Caco-2	colon:	n/a
17	chr11:17411006-17411056	HAEpiC	amniotic membrane:	n/a
18	chr11:17411006-17411056	AG04450	lung:	fetal
19	chr11:17411006-17411056	GM12891	blood:	n/a
20	chr11:17411006-17411056	HRCEpiC	kidney:	n/a
21	chr11:17411006-17411056	H1-hESC	embryonic stem cell:	embryo
22	chr11:17411006-17411056	PFSK-1	brain:	n/a
23	chr11:17411006-17411056	HEK293	kidney:	embryo
24	chr11:17411006-17411056	SKMC	muscle:	n/a
25	chr11:17411006-17411056	U87	brain:	n/a
26	chr11:17411006-17411056	CMK	blood:	n/a
27	chr11:17411006-17411056	HRPEpiC	eye:	n/a
28	chr11:17411006-17411056	GM06990	blood:	n/a
29	chr11:17411006-17411056	BE2_C	brain:	n/a
30	chr11:17411006-17411056	AG04449	skin:	fetal
31	chr11:17411006-17411056	AG10803	skin:	n/a
32	chr11:17411006-17411056	IMR90	lung:	fetal
33	chr11:17411006-17411056	ECC-1	luminal epithelium:	n/a
34	chr11:17411006-17411056	AG09319	gingival:	n/a
35	chr11:17411006-17411056	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:17411006-17411056	HUVEC	blood vessel:	n/a
37	chr11:17411006-17411056	HL-60	blood:	n/a
38	chr11:17411006-17411056	ovcar-3	ovarian:	n/a
39	chr11:17411006-17411056	GM12878	blood:	n/a
40	chr11:17411006-17411056	HRE	kidney:	n/a
41	chr11:17411006-17411056	HCPEpiC	choroid plexus:	n/a
42	chr11:17411006-17411056	HMEC	breast:	n/a
43	chr11:17411006-17411056	HepG2	liver:	n/a
44	chr11:17411006-17411056	BJ	skin:	n/a
45	chr11:17411006-17411056	PANC-1	pancreas:	n/a
46	chr11:17411006-17411056	NT2-D1	testis:	n/a
47	chr11:17411006-17411056	SK-N-SH	brain:	n/a
48	chr11:17411006-17411056	NHDF-neo	bronchial:	n/a
49	chr11:17411006-17411056	T-47D	breast:	n/a
50	chr11:17411006-17411056	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
2	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
3	chr11:17229389..17230099-chr11:17410468..17411417,2	K562	blood:
4	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:

Variant related genes	Relation type
KCNJ11	TF binding region
KCNJ11	CpG island
ENSG00000011405	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000006071	Chromatin interaction
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1002226	0.84[ASN][1000 genomes]
rs2074311	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2074314	0.86[ASN][1000 genomes]
rs4148646	0.81[ASN][1000 genomes]
rs5213	0.86[ASN][1000 genomes]
rs5215	0.86[ASN][1000 genomes]
rs5219	0.87[ASN][1000 genomes]
rs7124355	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv897018	chr11:17403639-17417337	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv540952	chr11:17407913-17422755	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35271178	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
2	chr11:17409600-17411400	Active TSS	Brain Anterior Caudate	brain
3	chr11:17409600-17411800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:17409800-17411400	Active TSS	Psoas Muscle	Psoas
5	chr11:17410000-17411400	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr11:17410000-17411600	Active TSS	Fetal Brain Female	brain
7	chr11:17410200-17411200	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr11:17410200-17411200	Active TSS	Liver	Liver
9	chr11:17410200-17411200	Active TSS	Colon Smooth Muscle	Colon
10	chr11:17410200-17411200	Active TSS	Pancreas	Pancrea
11	chr11:17410200-17411200	Active TSS	Rectal Smooth Muscle	rectum
12	chr11:17410200-17411200	Active TSS	HSMM	muscle
13	chr11:17410200-17411400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:17410200-17411400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:17410200-17411400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:17410200-17411400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:17410200-17411400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:17410200-17411400	Active TSS	Primary T cells from cord blood	blood
19	chr11:17410200-17411400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:17410200-17411400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:17410200-17411400	Active TSS	Brain Angular Gyrus	brain
22	chr11:17410200-17411400	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:17410200-17411400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:17410200-17411400	Active TSS	Left Ventricle	heart
25	chr11:17410200-17411400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr11:17410200-17411400	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr11:17410200-17411400	Active TSS	Right Atrium	heart
28	chr11:17410200-17411400	Active TSS	K562	blood
29	chr11:17410200-17411400	Active TSS	NHEK	skin
30	chr11:17410200-17411600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr11:17410200-17411600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr11:17410200-17411600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:17410200-17411600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:17410200-17411800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr11:17410400-17411200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:17410400-17411200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:17410400-17411200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:17410400-17411200	Active TSS	Aorta	Aorta
39	chr11:17410400-17411200	Active TSS	Esophagus	oesophagus
40	chr11:17410400-17411200	Active TSS	Fetal Intestine Small	intestine
41	chr11:17410400-17411200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr11:17410400-17411200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:17410400-17411200	Active TSS	Small Intestine	intestine
44	chr11:17410400-17411200	Active TSS	Thymus	Thymus
45	chr11:17410400-17411200	Active TSS	NH-A	brain
46	chr11:17410400-17411200	Active TSS	NHLF	lung
47	chr11:17410400-17411400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr11:17410400-17411400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:17410400-17411400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:17410400-17411400	Active TSS	HUES48 Cell Line	embryonic stem cell

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