Variant report

Variant	rs667350
Chromosome Location	chr11:73358663-73358664
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	ZEB1	chr11:73358380-73360542	HepG2	liver:	n/a	chr11:73358908-73358917 chr11:73358906-73358917
2	SIN3A	chr11:73358484-73359072	H1-hESC	embryonic stem cell:	n/a	chr11:73358848-73358862
3	CHD2	chr11:73358525-73359042	HepG2	liver:	n/a	n/a
4	JUND	chr11:73358522-73358693	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr11:73358577-73358822	HepG2	liver:	n/a	n/a
6	NRF1	chr11:73358493-73358894	GM12878	blood:	n/a	chr11:73358513-73358522 chr11:73358702-73358713 chr11:73358702-73358716
7	TBP	chr11:73358539-73358851	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:73358535-73358955	ECC-1	luminal epithelium:	n/a	n/a
9	SIX5	chr11:73358449-73358671	K562	blood:	n/a	chr11:73358553-73358562 chr11:73358551-73358560
10	RCOR1	chr11:73358518-73359247	HepG2	liver:	n/a	n/a
11	SP4	chr11:73358557-73358979	H1-hESC	embryonic stem cell:	n/a	chr11:73358795-73358806
12	CEBPD	chr11:73358430-73358993	HepG2	liver:	n/a	n/a
13	CHD2	chr11:73358600-73359071	GM12878	blood:	n/a	n/a
14	IRF1	chr11:73358393-73358826	K562	blood:	n/a	chr11:73358432-73358441 chr11:73358795-73358809 chr11:73358622-73358636
15	HEY1	chr11:73358485-73358963	HepG2	liver:	n/a	n/a
16	MAX	chr11:73358479-73358865	GM12878	blood:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
17	CREB1	chr11:73358442-73358670	A549	lung:	n/a	n/a
18	CREB1	chr11:73358341-73359151	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBL1XR1	chr11:73358503-73358689	K562	blood:	n/a	n/a
20	SIN3AK20	chr11:73358502-73359131	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:73358375-73359208	K562	blood:	n/a	n/a
22	CTCF	chr11:73358570-73358754	Spleen_OC	spleen:	n/a	n/a
23	CREB1	chr11:73358329-73358839	GM12878	blood:	n/a	n/a
24	YY1	chr11:73358486-73358796	HCT-116	colon:	n/a	chr11:73358620-73358634
25	POLR2A	chr11:73358480-73358944	HCT-116	colon:	n/a	n/a
26	POLR2A	chr11:73358629-73358924	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:73358642-73359066	H1-hESC	embryonic stem cell:	n/a	n/a
28	ETS1	chr11:73358387-73358833	K562	blood:	n/a	chr11:73358550-73358563 chr11:73358549-73358562
29	YY1	chr11:73358481-73358871	HepG2	liver:	n/a	chr11:73358620-73358634
30	SIX5	chr11:73358416-73358728	K562	blood:	n/a	chr11:73358553-73358562 chr11:73358551-73358560
31	RFX5	chr11:73358557-73358923	HepG2	liver:	n/a	n/a
32	MAZ	chr11:73358420-73358869	HepG2	liver:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
33	ELF1	chr11:73358433-73359185	MCF-7	breast:	n/a	chr11:73358627-73358639 chr11:73358620-73358632
34	POLR2A	chr11:73358625-73359053	H1-hESC	embryonic stem cell:	n/a	n/a
35	USF2	chr11:73358525-73358960	H1-hESC	embryonic stem cell:	n/a	chr11:73358630-73358646
36	CREB1	chr11:73358271-73359199	HepG2	liver:	n/a	n/a
37	NRF1	chr11:73358173-73358987	SK-N-SH	brain:	n/a	chr11:73358513-73358522 chr11:73358702-73358713 chr11:73358702-73358716
38	POLR2A	chr11:73358588-73358928	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr11:73358634-73358835	HepG2	liver:	n/a	n/a
40	MAZ	chr11:73358386-73358973	K562	blood:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
41	HCFC1	chr11:73358318-73358775	K562	blood:	n/a	n/a
42	POLR2A	chr11:73358534-73358957	ECC-1	luminal epithelium:	n/a	n/a
43	MAFF	chr11:73358562-73358688	HepG2	liver:	n/a	chr11:73358569-73358587
44	YY1	chr11:73358456-73359004	H1-hESC	embryonic stem cell:	n/a	chr11:73358620-73358634
45	ATF2	chr11:73358400-73359214	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr11:73358458-73358797	A549	lung:	n/a	n/a
47	RCOR1	chr11:73358640-73359005	GM12878	blood:	n/a	n/a
48	USF1	chr11:73358512-73358681	SK-N-SH_RA	brain:	n/a	chr11:73358630-73358646
49	MAX	chr11:73358554-73359135	H1-hESC	embryonic stem cell:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
50	ZNF143	chr11:73358365-73358760	K562	blood:	n/a	chr11:73358553-73358562 chr11:73358551-73358560 chr11:73358551-73358569

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73358657-73358707	MCF-7	breast:	n/a
2	chr11:73358657-73358707	HEEpiC	esophagus:	n/a
3	chr11:73358657-73358707	PANC-1	pancreas:	n/a
4	chr11:73358657-73358707	HCT-116	colon:	n/a
5	chr11:73358657-73358707	HL-60	blood:	n/a
6	chr11:73358657-73358707	NH-A	brain:	n/a
7	chr11:73358657-73358707	BJ	skin:	n/a
8	chr11:73358657-73358707	PrEC	prostate:	n/a
9	chr11:73358657-73358707	K562	blood:	n/a
10	chr11:73358657-73358707	PFSK-1	brain:	n/a
11	chr11:73358657-73358707	U87	brain:	n/a
12	chr11:73358657-73358707	NT2-D1	testis:	n/a
13	chr11:73358657-73358707	GM12891	blood:	n/a
14	chr11:73358657-73358707	HAEpiC	amniotic membrane:	n/a
15	chr11:73358657-73358707	HNPCEpiC	eye:	n/a
16	chr11:73358657-73358707	T-47D	breast:	n/a
17	chr11:73358657-73358707	BE2_C	brain:	n/a
18	chr11:73358657-73358707	ProgFib	skin:	n/a
19	chr11:73358657-73358707	AG10803	skin:	n/a
20	chr11:73358657-73358707	HepG2	liver:	n/a
21	chr11:73358657-73358707	HCM	heart:	n/a
22	chr11:73358657-73358707	HEK293	kidney:	embryo
23	chr11:73358657-73358707	AG04450	lung:	fetal
24	chr11:73358657-73358707	GM12878	blood:	n/a
25	chr11:73358657-73358707	HMEC	breast:	n/a
26	chr11:73358657-73358707	HUVEC	blood vessel:	n/a
27	chr11:73358657-73358707	LNCaP	prostate:	n/a
28	chr11:73358657-73358707	CMK	blood:	n/a
29	chr11:73358657-73358707	HIPEpiC	eye:	n/a
30	chr11:73358657-73358707	MCF10A-Er-Src	breast:	n/a
31	chr11:73358657-73358707	AG09309	skin:	n/a
32	chr11:73358657-73358707	HCF	heart:	n/a
33	chr11:73358657-73358707	HRCEpiC	kidney:	n/a
34	chr11:73358657-73358707	H1-hESC	embryonic stem cell:	embryo
35	chr11:73358657-73358707	RPTEC	kidney:	n/a
36	chr11:73358657-73358707	AG04449	skin:	fetal
37	chr11:73358657-73358707	SK-N-MC	brain:	n/a
38	chr11:73358657-73358707	GM12892	blood:	n/a
39	chr11:73358657-73358707	Jurkat	blood:	n/a
40	chr11:73358657-73358707	HRE	kidney:	n/a
41	chr11:73358657-73358707	SKMC	muscle:	n/a
42	chr11:73358657-73358707	Caco-2	colon:	n/a
43	chr11:73358657-73358707	GM19239	blood:	n/a
44	chr11:73358657-73358707	AG09319	gingival:	n/a
45	chr11:73358657-73358707	NB4	blood:	n/a
46	chr11:73358657-73358707	IMR90	lung:	fetal
47	chr11:73358657-73358707	ECC-1	luminal epithelium:	n/a
48	chr11:73358657-73358707	NHDF-neo	bronchial:	n/a
49	chr11:73358657-73358707	A549	lung:	n/a
50	chr11:73358657-73358707	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73350129..73352943-chr11:73358005..73360556,2	MCF-7	breast:
2	chr11:73307696..73311155-chr11:73356118..73358808,4	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
PLEKHB1	CpG island
ENSG00000054965	Chromatin interaction
ENSG00000270323	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11235841	0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11235911	0.81[JPT][hapmap]
rs11235918	0.81[JPT][hapmap]
rs1474417	0.81[JPT][hapmap]
rs1792163	0.81[JPT][hapmap]
rs3016496	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3016497	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs623653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs663303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7104794	0.81[JPT][hapmap]
rs72974828	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv525173	chr11:73356872-73364673	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73356200-73358800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:73356600-73359000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:73356600-73359000	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr11:73356800-73360600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:73357000-73359200	Bivalent Enhancer	NHEK	skin
7	chr11:73357200-73359200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:73357200-73359200	Enhancers	Spleen	Spleen
9	chr11:73357200-73364000	Weak transcription	Liver	Liver
10	chr11:73357400-73358800	Enhancers	Stomach Mucosa	stomach
11	chr11:73357800-73358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:73357800-73358800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:73357800-73359000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:73357800-73359200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:73357800-73359200	Enhancers	Esophagus	oesophagus
16	chr11:73357800-73359600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:73358000-73358800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:73358000-73358800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:73358000-73359000	Enhancers	Fetal Brain Male	brain
21	chr11:73358000-73359400	Enhancers	Fetal Thymus	thymus
22	chr11:73358000-73359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:73358200-73358800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:73358200-73358800	Active TSS	GM12878-XiMat	blood
25	chr11:73358200-73359000	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:73358200-73359000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:73358200-73359000	Enhancers	Fetal Kidney	kidney
28	chr11:73358200-73359200	Enhancers	Primary B cells from cord blood	blood
29	chr11:73358200-73359200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:73358200-73359200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr11:73358200-73359200	Enhancers	HMEC	breast
32	chr11:73358200-73359400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:73358200-73361000	Flanking Active TSS	HepG2	liver
34	chr11:73358400-73358800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:73358400-73358800	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:73358400-73358800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
37	chr11:73358400-73358800	Enhancers	Primary T cells from cord blood	blood
38	chr11:73358400-73358800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr11:73358400-73358800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr11:73358400-73358800	Enhancers	Brain Germinal Matrix	brain
41	chr11:73358400-73358800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:73358400-73359000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr11:73358400-73359000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:73358400-73359000	Active TSS	Fetal Brain Female	brain
45	chr11:73358400-73359000	Flanking Active TSS	Thymus	Thymus
46	chr11:73358400-73359200	Active TSS	Colon Smooth Muscle	Colon
47	chr11:73358400-73359200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:73358400-73359800	Active TSS	Brain Anterior Caudate	brain
49	chr11:73358400-73359800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:73358600-73358800	Active TSS	HUES6 Cell Line	embryonic stem cell

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