Variant report

Variant	rs11235817
Chromosome Location	chr11:73309884-73309885
allele	A/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	CTCF	chr11:73308933-73309986	K562	blood:	n/a	n/a
2	ELF1	chr11:73309085-73310028	A549	lung:	n/a	n/a
3	CHD2	chr11:73308835-73310111	H1-hESC	embryonic stem cell:	n/a	chr11:73309338-73309348 chr11:73308857-73308867 chr11:73309526-73309536 chr11:73309162-73309172
4	SP4	chr11:73309426-73309980	H1-hESC	embryonic stem cell:	n/a	chr11:73309524-73309535
5	TAF1	chr11:73308930-73309929	SK-N-SH	brain:	n/a	n/a
6	MAX	chr11:73308847-73309986	SK-N-SH	brain:	n/a	chr11:73309532-73309542 chr11:73308946-73308956
7	KAP1	chr11:73309167-73310282	HEK293	kidney:	n/a	n/a
8	ETS1	chr11:73309028-73309930	GM12878	blood:	n/a	chr11:73309681-73309694 chr11:73309332-73309345 chr11:73309617-73309630 chr11:73309526-73309537 chr11:73309292-73309305 chr11:73309618-73309631 chr11:73309720-73309733 chr11:73309297-73309304
9	POLR2A	chr11:73309605-73309918	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:73308969-73309898	K562	blood:	n/a	n/a
11	POLR2A	chr11:73309298-73309945	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:73308879-73309944	GM10847	blood:	n/a	n/a
13	SMC3	chr11:73308911-73309921	Hela-S3	cervix:	n/a	n/a
14	YY1	chr11:73308931-73310115	SK-N-SH_RA	brain:	n/a	chr11:73309246-73309260 chr11:73308992-73309001 chr11:73308992-73309006 chr11:73309333-73309347 chr11:73309524-73309535 chr11:73309367-73309381 chr11:73308993-73309004 chr11:73308995-73309004
15	PML	chr11:73308749-73310062	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:73309142-73309936	HUVEC	blood vessel:	n/a	n/a
17	GABPA	chr11:73308814-73309957	K562	blood:	n/a	chr11:73309533-73309542 chr11:73309084-73309093 chr11:73309246-73309260
18	SIN3AK20	chr11:73308905-73309980	SK-N-SH	brain:	n/a	n/a
19	RUNX3	chr11:73308758-73309996	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:73308911-73309998	HEK293	kidney:	n/a	n/a
21	GABPA	chr11:73308983-73310059	SK-N-SH	brain:	n/a	chr11:73309533-73309542 chr11:73309084-73309093 chr11:73309246-73309260
22	BHLHE40	chr11:73308999-73309937	K562	blood:	n/a	chr11:73309170-73309186 chr11:73309347-73309363
23	ETS1	chr11:73308999-73310022	A549	lung:	n/a	chr11:73309681-73309694 chr11:73309332-73309345 chr11:73309617-73309630 chr11:73309526-73309537 chr11:73309292-73309305 chr11:73309618-73309631 chr11:73309720-73309733 chr11:73309297-73309304
24	EP300	chr11:73309110-73309903	HepG2	liver:	n/a	chr11:73309249-73309258 chr11:73309755-73309769
25	BCLAF1	chr11:73308865-73309957	GM12878	blood:	n/a	chr11:73308993-73309002 chr11:73309760-73309769 chr11:73308995-73309008 chr11:73309338-73309351 chr11:73309175-73309188 chr11:73308996-73309005 chr11:73308992-73309005 chr11:73308991-73309004
26	UBTF	chr11:73308912-73310053	K562	blood:	n/a	n/a
27	EGR1	chr11:73308963-73309998	ECC-1	luminal epithelium:	n/a	chr11:73309708-73309732 chr11:73309535-73309545 chr11:73309194-73309208 chr11:73309535-73309546 chr11:73309533-73309548 chr11:73309529-73309551 chr11:73309211-73309221 chr11:73309534-73309547 chr11:73309535-73309545 chr11:73309533-73309547 chr11:73309618-73309642 chr11:73309293-73309317 chr11:73309534-73309547 chr11:73309531-73309545
28	POLR2A	chr11:73308897-73309913	A549	lung:	n/a	n/a
29	TBP	chr11:73309162-73310142	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:73308955-73310134	HepG2	liver:	n/a	n/a
31	NFYA	chr11:73309427-73309994	K562	blood:	n/a	n/a
32	POLR2A	chr11:73308887-73309955	GM15510	blood:	n/a	n/a
33	CREB1	chr11:73308824-73310153	GM12878	blood:	n/a	n/a
34	TEAD4	chr11:73308914-73310042	K562	blood:	n/a	n/a
35	YY1	chr11:73308803-73310029	GM12878	blood:	n/a	chr11:73309246-73309260 chr11:73308992-73309001 chr11:73308992-73309006 chr11:73309333-73309347 chr11:73309524-73309535 chr11:73309367-73309381 chr11:73308907-73308921 chr11:73308993-73309004 chr11:73308995-73309004
36	GABPA	chr11:73308998-73310103	MCF-7	breast:	n/a	chr11:73309533-73309542 chr11:73309084-73309093 chr11:73309246-73309260
37	POLR2A	chr11:73309091-73310172	MCF10A-Er-Src	breast:	n/a	n/a
38	TAF1	chr11:73309071-73310028	A549	lung:	n/a	n/a
39	POLR2A	chr11:73308875-73310072	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr11:73309149-73309990	ECC-1	luminal epithelium:	n/a	n/a
41	EP300	chr11:73309091-73309911	GM12878	blood:	n/a	chr11:73309249-73309258 chr11:73309755-73309769
42	TAF1	chr11:73308456-73310086	H1-neurons	neurons:	n/a	n/a
43	TCF12	chr11:73308782-73310122	A549	lung:	n/a	n/a
44	SIX5	chr11:73308966-73309899	GM12878	blood:	n/a	chr11:73309682-73309691 chr11:73309684-73309693 chr11:73309621-73309630 chr11:73309619-73309628
45	TAF1	chr11:73309516-73309957	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF12	chr11:73308647-73309999	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:73308788-73310031	GM12878	blood:	n/a	n/a
48	ELF1	chr11:73309339-73309996	A549	lung:	n/a	n/a
49	GTF2B	chr11:73309509-73309972	K562	blood:	n/a	n/a
50	RAD21	chr11:73309004-73310049	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73309852-73309902	GM12892	blood:	n/a
2	chr11:73309852-73309902	HCPEpiC	choroid plexus:	n/a
3	chr11:73309852-73309902	ECC-1	luminal epithelium:	n/a
4	chr11:73309852-73309902	HIPEpiC	eye:	n/a
5	chr11:73309852-73309902	AG04450	lung:	fetal
6	chr11:73309852-73309902	SK-N-SH_RA	brain:	n/a
7	chr11:73309852-73309902	SKMC	muscle:	n/a
8	chr11:73309852-73309902	HCT-116	colon:	n/a
9	chr11:73309852-73309902	PFSK-1	brain:	n/a
10	chr11:73309852-73309902	NB4	blood:	n/a
11	chr11:73309852-73309902	IMR90	lung:	fetal
12	chr11:73309852-73309902	SK-N-SH	brain:	n/a
13	chr11:73309852-73309902	GM06990	blood:	n/a
14	chr11:73309852-73309902	HRCEpiC	kidney:	n/a
15	chr11:73309852-73309902	HAEpiC	amniotic membrane:	n/a
16	chr11:73309852-73309902	GM12878	blood:	n/a
17	chr11:73309852-73309902	LNCaP	prostate:	n/a
18	chr11:73309852-73309902	SK-N-MC	brain:	n/a
19	chr11:73309852-73309902	T-47D	breast:	n/a
20	chr11:73309852-73309902	Caco-2	colon:	n/a
21	chr11:73309852-73309902	HUVEC	blood vessel:	n/a
22	chr11:73309852-73309902	NHDF-neo	bronchial:	n/a
23	chr11:73309852-73309902	HEEpiC	esophagus:	n/a
24	chr11:73309852-73309902	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:73309852-73309902	Hepatocyte	liver:	n/a
26	chr11:73309852-73309902	RPTEC	kidney:	n/a
27	chr11:73309852-73309902	A549	lung:	n/a
28	chr11:73309852-73309902	HNPCEpiC	eye:	n/a
29	chr11:73309852-73309902	NT2-D1	testis:	n/a
30	chr11:73309852-73309902	H1-hESC	embryonic stem cell:	embryo
31	chr11:73309852-73309902	K562	blood:	n/a
32	chr11:73309852-73309902	BJ	skin:	n/a
33	chr11:73309852-73309902	AG09319	gingival:	n/a
34	chr11:73309852-73309902	SAEC	small airway:	n/a
35	chr11:73309852-73309902	GM19239	blood:	n/a
36	chr11:73309852-73309902	HCF	heart:	n/a
37	chr11:73309852-73309902	Hela-S3	cervix:	n/a
38	chr11:73309852-73309902	AG10803	skin:	n/a
39	chr11:73309852-73309902	NHBE	bronchial:	n/a
40	chr11:73309852-73309902	HRPEpiC	eye:	n/a
41	chr11:73309852-73309902	HCM	heart:	n/a
42	chr11:73309852-73309902	ProgFib	skin:	n/a
43	chr11:73309852-73309902	HEK293	kidney:	embryo
44	chr11:73309852-73309902	HepG2	liver:	n/a
45	chr11:73309852-73309902	HMEC	breast:	n/a
46	chr11:73309852-73309902	MCF10A-Er-Src	breast:	n/a
47	chr11:73309852-73309902	BE2_C	brain:	n/a
48	chr11:73309852-73309902	HL-60	blood:	n/a
49	chr11:73309852-73309902	CMK	blood:	n/a
50	chr11:73309852-73309902	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73307696..73311155-chr11:73356118..73358808,4	MCF-7	breast:
2	chr11:73309644..73312561-chr11:73314444..73315980,2	MCF-7	breast:
3	chr11:73289699..73292318-chr11:73308150..73310462,2	K562	blood:
4	chr11:73309401..73311086-chr11:73354821..73356698,2	MCF-7	breast:
5	chr11:73309307..73309906-chr2:202290..202790,2	Hela-S3	cervix:
6	chr11:73308527..73310864-chr11:73370877..73373752,3	MCF-7	breast:

Variant related genes	Relation type
FAM168A	TF binding region
FAM168A	CpG island
ENSG00000021300	Chromatin interaction
ENSG00000231726	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10047427	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10082565	1.00[AMR][1000 genomes]
rs10128665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1054726	1.00[AMR][1000 genomes]
rs11235732	1.00[AMR][1000 genomes]
rs11235744	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11235750	1.00[AMR][1000 genomes]
rs11235756	0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11235758	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11235766	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235774	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235782	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235785	0.95[AFR][1000 genomes]
rs11235804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235808	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11819847	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822755	1.00[YRI][hapmap]
rs11822862	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823113	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823115	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270051	0.82[AFR][1000 genomes]
rs12273771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274281	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12274787	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12277410	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12279375	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279753	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281470	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282576	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290126	1.00[AMR][1000 genomes]
rs12295567	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377500	0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132094	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132131	0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17310361	1.00[MEX][hapmap]
rs2008722	1.00[MEX][hapmap]
rs594814	1.00[MEX][hapmap]
rs610280	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3384593	chr11:73307854-73310302	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr11:73307400-73310200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:73307800-73310400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:73307800-73310400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:73308000-73310200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:73308000-73310400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:73308200-73310200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:73308200-73310200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:73308200-73310200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:73308200-73310400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:73308400-73310000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:73308400-73310000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:73308400-73310000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:73308400-73310000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:73308400-73310000	Active TSS	Aorta	Aorta
15	chr11:73308400-73310000	Active TSS	Small Intestine	intestine
16	chr11:73308400-73310000	Bivalent/Poised TSS	HepG2	liver
17	chr11:73308400-73310200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:73308400-73310200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:73308400-73310200	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr11:73308400-73310200	Active TSS	Brain Germinal Matrix	brain
21	chr11:73308400-73310200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:73308400-73310200	Active TSS	NHDF-Ad	bronchial
23	chr11:73308400-73310200	Active TSS	NHLF	lung
24	chr11:73308400-73310400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:73308400-73310400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:73308400-73310400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:73308400-73310400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:73308400-73310400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:73308400-73310400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:73308400-73310400	Active TSS	Psoas Muscle	Psoas
31	chr11:73308400-73310400	Active TSS	HSMMtube	muscle
32	chr11:73308400-73311000	Active TSS	GM12878-XiMat	blood
33	chr11:73308600-73310000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:73308600-73310000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:73308600-73310000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:73308600-73310000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:73308600-73310000	Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:73308600-73310000	Active TSS	Colon Smooth Muscle	Colon
39	chr11:73308600-73310000	Active TSS	Duodenum Mucosa	Duodenum
40	chr11:73308600-73310000	Active TSS	Esophagus	oesophagus
41	chr11:73308600-73310000	Active TSS	Gastric	stomach
42	chr11:73308600-73310000	Active TSS	Left Ventricle	heart
43	chr11:73308600-73310000	Active TSS	Lung	lung
44	chr11:73308600-73310000	Active TSS	Pancreas	Pancrea
45	chr11:73308600-73310000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr11:73308600-73310000	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr11:73308600-73310000	Active TSS	Spleen	Spleen
48	chr11:73308600-73310000	Active TSS	Dnd41	blood
49	chr11:73308600-73310000	Active TSS	Osteobl	bone
50	chr11:73308600-73310200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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