Variant report

Variant	rs2272248
Chromosome Location	chr11:73371942-73371943
allele	A/C
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	RAD21	chr11:73371732-73373000	SK-N-SH	brain:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
2	RAD21	chr11:73371733-73372744	MCF-7	breast:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
3	RAD21	chr11:73371940-73372289	GM12878	blood:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
4	SP1	chr11:73371920-73372332	GM12878	blood:	n/a	n/a
5	SMC3	chr11:73371043-73372861	SK-N-SH	brain:	n/a	chr11:73372235-73372243 chr11:73372154-73372164 chr11:73372161-73372168 chr11:73372154-73372168
6	TEAD4	chr11:73371911-73372686	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr11:73371894-73372943	A549	lung:	n/a	n/a
8	POLR2A	chr11:73371904-73372670	HUVEC	blood vessel:	n/a	n/a
9	RAD21	chr11:73371550-73372765	H1-hESC	embryonic stem cell:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
10	POLR2A	chr11:73371903-73372867	H1-hESC	embryonic stem cell:	n/a	n/a
11	TEAD4	chr11:73371927-73372739	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr11:73371636-73372863	HCT-116	colon:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
13	HA-E2F1	chr11:73371912-73372846	MCF-7	breast:	n/a	n/a
14	RAD21	chr11:73371847-73372722	H1-hESC	embryonic stem cell:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
15	CTCF	chr11:73371787-73372735	HCT-116	colon:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
16	RCOR1	chr11:73371937-73372335	K562	blood:	n/a	n/a
17	POLR2A	chr11:73371819-73372786	GM12891	blood:	n/a	n/a
18	RAD21	chr11:73371803-73372561	A549	lung:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
19	RAD21	chr11:73371795-73372464	HepG2	liver:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
20	POLR2A	chr11:73371732-73372757	H1-neurons	neurons:	n/a	n/a
21	MYC	chr11:73371819-73371991	MCF-7	breast:	n/a	n/a
22	EP300	chr11:73371836-73372440	A549	lung:	n/a	n/a
23	POLR2A	chr11:73371767-73372599	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:73371923-73372688	GM12878	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
25	RAD21	chr11:73371930-73372362	K562	blood:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
26	TEAD4	chr11:73371907-73372353	K562	blood:	n/a	n/a
27	MAZ	chr11:73371850-73372800	IMR90	lung:	n/a	n/a
28	RAD21	chr11:73371934-73372345	A549	lung:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
29	RAD21	chr11:73371940-73372300	GM12878	blood:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
30	RFX5	chr11:73371908-73372200	HepG2	liver:	n/a	n/a
31	RAD21	chr11:73371666-73372802	H1-hESC	embryonic stem cell:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
32	RAD21	chr11:73371859-73372357	HepG2	liver:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
33	CTCF	chr11:73371916-73372352	T-47D	breast:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
34	POLR2A	chr11:73371851-73372434	HUVEC	blood vessel:	n/a	n/a
35	YY1	chr11:73371902-73372299	GM12891	blood:	n/a	n/a
36	SIN3AK20	chr11:73371909-73372393	PANC-1	pancreas:	n/a	n/a
37	TBP	chr11:73371928-73372669	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:73370572-73375339	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:73371745-73372130	HepG2	liver:	n/a	n/a
40	RAD21	chr11:73371680-73372670	HCT-116	colon:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
41	CTCF	chr11:73371833-73372797	MCF-7	breast:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
42	MAX	chr11:73371663-73372949	MCF-7	breast:	n/a	chr11:73371729-73371738
43	CTCF	chr11:73371834-73372800	H1-hESC	embryonic stem cell:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
44	ATF3	chr11:73371941-73372386	A549	lung:	n/a	n/a
45	FOXM1	chr11:73371900-73372418	GM12878	blood:	n/a	n/a
46	CTCF	chr11:73371716-73372852	HCT-116	colon:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
47	CTCF	chr11:73371895-73372411	A549	lung:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
48	SP4	chr11:73371867-73372415	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:73371884-73372723	H1-hESC	embryonic stem cell:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
50	TCF12	chr11:73371881-73372456	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73371940-73371990	A549	lung:	n/a
2	chr11:73371940-73371990	BE2_C	brain:	n/a
3	chr11:73371940-73371990	AG10803	skin:	n/a
4	chr11:73371940-73371990	AG09319	gingival:	n/a
5	chr11:73371940-73371990	GM06990	blood:	n/a
6	chr11:73371940-73371990	HCT-116	colon:	n/a
7	chr11:73371940-73371990	PrEC	prostate:	n/a
8	chr11:73371940-73371990	CMK	blood:	n/a
9	chr11:73371940-73371990	GM12878	blood:	n/a
10	chr11:73371940-73371990	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:73371940-73371990	NH-A	brain:	n/a
12	chr11:73371940-73371990	U87	brain:	n/a
13	chr11:73371940-73371990	BJ	skin:	n/a
14	chr11:73371940-73371990	Hela-S3	cervix:	n/a
15	chr11:73371940-73371990	Jurkat	blood:	n/a
16	chr11:73371940-73371990	AG09309	skin:	n/a
17	chr11:73371940-73371990	AG04449	skin:	fetal
18	chr11:73371940-73371990	HRPEpiC	eye:	n/a
19	chr11:73371940-73371990	HepG2	liver:	n/a
20	chr11:73371940-73371990	LNCaP	prostate:	n/a
21	chr11:73371940-73371990	AoSMC	blood vessel:	n/a
22	chr11:73371940-73371990	HIPEpiC	eye:	n/a
23	chr11:73371940-73371990	NHDF-neo	bronchial:	n/a
24	chr11:73371940-73371990	PFSK-1	brain:	n/a
25	chr11:73371940-73371990	HNPCEpiC	eye:	n/a
26	chr11:73371940-73371990	HMEC	breast:	n/a
27	chr11:73371940-73371990	GM19239	blood:	n/a
28	chr11:73371940-73371990	Caco-2	colon:	n/a
29	chr11:73371940-73371990	Hepatocyte	liver:	n/a
30	chr11:73371940-73371990	HAEpiC	amniotic membrane:	n/a
31	chr11:73371940-73371990	HEEpiC	esophagus:	n/a
32	chr11:73371940-73371990	HL-60	blood:	n/a
33	chr11:73371940-73371990	K562	blood:	n/a
34	chr11:73371940-73371990	SAEC	small airway:	n/a
35	chr11:73371940-73371990	IMR90	lung:	fetal
36	chr11:73371940-73371990	NT2-D1	testis:	n/a
37	chr11:73371940-73371990	SK-N-SH_RA	brain:	n/a
38	chr11:73371940-73371990	RPTEC	kidney:	n/a
39	chr11:73371940-73371990	ovcar-3	ovarian:	n/a
40	chr11:73371940-73371990	SKMC	muscle:	n/a
41	chr11:73371940-73371990	AG04450	lung:	fetal
42	chr11:73371940-73371990	GM12892	blood:	n/a
43	chr11:73371940-73371990	HRE	kidney:	n/a
44	chr11:73371940-73371990	ProgFib	skin:	n/a
45	chr11:73371940-73371990	SK-N-MC	brain:	n/a
46	chr11:73371940-73371990	MCF10A-Er-Src	breast:	n/a
47	chr11:73371940-73371990	NB4	blood:	n/a
48	chr11:73371940-73371990	ECC-1	luminal epithelium:	n/a
49	chr11:73371940-73371990	HCF	heart:	n/a
50	chr11:73371940-73371990	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73189539..73190279-chr11:73371425..73372555,3	MCF-7	breast:
2	chr11:73189484..73190492-chr11:73371669..73372682,5	K562	blood:
3	chr11:73114875..73115740-chr11:73371666..73372740,6	MCF-7	breast:
4	chr11:73061985..73063168-chr11:73371666..73372611,6	K562	blood:
5	chr11:73114698..73115543-chr11:73371649..73372416,6	K562	blood:
6	chr11:73336503..73337418-chr11:73371731..73372656,5	MCF-7	breast:
7	chr11:73371264..73374255-chr11:73470720..73472543,3	MCF-7	breast:
8	chr11:73006156..73007134-chr11:73371683..73372187,2	K562	blood:
9	chr11:73061949..73062569-chr11:73371667..73372987,3	MCF-7	breast:
10	chr11:73113711..73116580-chr11:73369932..73372135,2	MCF-7	breast:
11	chr11:73113521..73114482-chr11:73371404..73372583,4	MCF-7	breast:
12	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:
13	chr11:73371739..73372578-chr11:73642460..73643367,2	MCF-7	breast:
14	chr11:73339161..73339931-chr11:73371565..73372121,2	K562	blood:
15	chr11:73308527..73310864-chr11:73370877..73373752,3	MCF-7	breast:
16	chr11:73371809..73372966-chr11:73642075..73643041,5	MCF-7	breast:
17	chr11:73240973..73241953-chr11:73371670..73372602,3	K562	blood:
18	chr11:73017996..73018959-chr11:73371785..73372637,2	MCF-7	breast:
19	chr11:73370621..73373782-chr11:73375391..73378489,3	K562	blood:
20	chr11:73018239..73018964-chr11:73371705..73372640,2	MCF-7	breast:
21	chr11:73370621..73373362-chr11:73374892..73376891,2	K562	blood:
22	chr11:73336448..73337518-chr11:73371686..73372936,6	K562	blood:
23	chr11:73114553..73115793-chr11:73371630..73372835,7	MCF-7	breast:
24	chr11:73371085..73373574-chr11:73587519..73589689,2	MCF-7	breast:
25	chr11:73071278..73072181-chr11:73371770..73372619,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
PLEKHB1	CpG island
ENSG00000252732	Chromatin interaction
ENSG00000256448	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000175582	Chromatin interaction
ENSG00000054965	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10898927	0.81[ASN][1000 genomes]
rs10898928	0.81[ASN][1000 genomes]
rs10898929	0.81[ASN][1000 genomes]
rs11235843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235844	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235850	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235851	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235852	0.90[AMR][1000 genomes]
rs11235859	0.90[AMR][1000 genomes]
rs11235860	0.90[AMR][1000 genomes]
rs11235864	0.84[AMR][1000 genomes]
rs12366033	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1568895	0.82[ASN][1000 genomes]
rs2037710	0.81[AMR][1000 genomes]
rs3825003	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4944028	0.84[AMR][1000 genomes]
rs4944029	0.84[AMR][1000 genomes]
rs4944032	0.84[AMR][1000 genomes]
rs4944852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944856	0.90[AMR][1000 genomes]
rs6590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66481935	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66556722	0.90[AMR][1000 genomes]
rs68128239	0.84[AMR][1000 genomes]
rs7128512	1.00[ASN][1000 genomes]
rs72974833	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72974840	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72974866	0.84[AMR][1000 genomes]
rs72974869	0.81[AMR][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	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
6	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73359600-73372200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:73362000-73375000	Weak transcription	Aorta	Aorta
3	chr11:73363800-73385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:73367600-73372000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:73369200-73372000	Weak transcription	Primary T cells from cord blood	blood
6	chr11:73371200-73372600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:73371600-73372000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:73371600-73372000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:73371600-73372000	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr11:73371600-73372200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:73371600-73372200	Active TSS	Colon Smooth Muscle	Colon
12	chr11:73371600-73372400	Enhancers	Gastric	stomach
13	chr11:73371600-73372600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:73371600-73372600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr11:73371600-73372600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:73371600-73372600	Flanking Active TSS	Colonic Mucosa	Colon
17	chr11:73371600-73372600	Enhancers	Fetal Brain Male	brain
18	chr11:73371600-73372600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr11:73371600-73372600	Enhancers	Lung	lung
20	chr11:73371600-73372600	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr11:73371600-73372600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr11:73371600-73372600	Flanking Active TSS	Osteobl	bone
23	chr11:73371600-73372800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:73371600-73372800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:73371600-73372800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr11:73371600-73372800	Enhancers	Spleen	Spleen
27	chr11:73371600-73372800	Flanking Active TSS	NHEK	skin
28	chr11:73371600-73374200	Strong transcription	HepG2	liver
29	chr11:73371800-73372000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr11:73371800-73372000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:73371800-73372000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:73371800-73372000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr11:73371800-73372000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:73371800-73372000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:73371800-73372000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:73371800-73372000	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr11:73371800-73372000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:73371800-73372000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:73371800-73372000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr11:73371800-73372000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr11:73371800-73372000	Flanking Active TSS	Fetal Brain Female	brain
42	chr11:73371800-73372000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr11:73371800-73372000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr11:73371800-73372000	Flanking Active TSS	Left Ventricle	heart
45	chr11:73371800-73372000	Flanking Active TSS	Ovary	ovary
46	chr11:73371800-73372000	Flanking Active TSS	Right Atrium	heart
47	chr11:73371800-73372000	Enhancers	Dnd41	blood
48	chr11:73371800-73372000	Flanking Active TSS	HUVEC	blood vessel
49	chr11:73371800-73372000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr11:73371800-73372000	Flanking Active TSS	NHLF	lung

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