Variant report

Variant	rs7128512
Chromosome Location	chr11:73372299-73372300
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	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	SP1	chr11:73371920-73372332	GM12878	blood:	n/a	n/a
4	SMC3	chr11:73371043-73372861	SK-N-SH	brain:	n/a	chr11:73372235-73372243 chr11:73372154-73372164 chr11:73372161-73372168 chr11:73372154-73372168
5	POU2F2	chr11:73371946-73372404	GM12878	blood:	n/a	n/a
6	CTCF	chr11:73372004-73372715	K562	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
7	POLR2A	chr11:73371980-73372606	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr11:73372054-73372720	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:73372007-73372337	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
10	TEAD4	chr11:73371911-73372686	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr11:73371894-73372943	A549	lung:	n/a	n/a
12	POLR2A	chr11:73371904-73372670	HUVEC	blood vessel:	n/a	n/a
13	RAD21	chr11:73371550-73372765	H1-hESC	embryonic stem cell:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
14	POLR2A	chr11:73371903-73372867	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr11:73371980-73372367	GM12878	blood:	n/a	n/a
16	ZNF143	chr11:73371999-73372493	K562	blood:	n/a	n/a
17	TEAD4	chr11:73371927-73372739	H1-hESC	embryonic stem cell:	n/a	n/a
18	RFX5	chr11:73372025-73372317	Hela-S3	cervix:	n/a	n/a
19	YY1	chr11:73372003-73372304	SK-N-SH_RA	brain:	n/a	n/a
20	RAD21	chr11:73371636-73372863	HCT-116	colon:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
21	HA-E2F1	chr11:73371912-73372846	MCF-7	breast:	n/a	n/a
22	RAD21	chr11:73371847-73372722	H1-hESC	embryonic stem cell:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
23	MAX	chr11:73372044-73372646	K562	blood:	n/a	n/a
24	USF2	chr11:73372075-73372588	GM12878	blood:	n/a	n/a
25	CTCF	chr11:73371988-73372372	GM12891	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
26	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
27	RCOR1	chr11:73371937-73372335	K562	blood:	n/a	n/a
28	THAP1	chr11:73372016-73372414	K562	blood:	n/a	n/a
29	POLR2A	chr11:73371819-73372786	GM12891	blood:	n/a	n/a
30	RAD21	chr11:73371803-73372561	A549	lung:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
31	CTCF	chr11:73371994-73372351	GM19240	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
32	CTCF	chr11:73372010-73372323	Lung_OC	lung:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
33	RAD21	chr11:73371795-73372464	HepG2	liver:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
34	BHLHE40	chr11:73371968-73372674	K562	blood:	n/a	n/a
35	POLR2A	chr11:73371732-73372757	H1-neurons	neurons:	n/a	n/a
36	EP300	chr11:73371836-73372440	A549	lung:	n/a	n/a
37	POLR2A	chr11:73371767-73372599	MCF-7	breast:	n/a	n/a
38	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
39	RAD21	chr11:73371930-73372362	K562	blood:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
40	CTCF	chr11:73372026-73372345	GM10266	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
41	CTCF	chr11:73372008-73372329	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
42	TEAD4	chr11:73371907-73372353	K562	blood:	n/a	n/a
43	MAZ	chr11:73371850-73372800	IMR90	lung:	n/a	n/a
44	RAD21	chr11:73371934-73372345	A549	lung:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
45	RAD21	chr11:73371940-73372300	GM12878	blood:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
46	CTCF	chr11:73372019-73372313	Kidney_OC	kidney:	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	chr11:73371994-73372349	NHEK	skin:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
48	ZNF143	chr11:73371949-73372649	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr11:73372019-73372300	A549	lung:	n/a	n/a
50	RAD21	chr11:73371666-73372802	H1-hESC	embryonic stem cell:	n/a	chr11:73372150-73372169 chr11:73372154-73372168

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73372278-73372328	T-47D	breast:	n/a
2	chr11:73372278-73372328	BJ	skin:	n/a
3	chr11:73372278-73372328	HEEpiC	esophagus:	n/a
4	chr11:73372278-73372328	HEK293	kidney:	embryo
5	chr11:73372278-73372328	U87	brain:	n/a
6	chr11:73372278-73372328	AoSMC	blood vessel:	n/a
7	chr11:73372278-73372328	NH-A	brain:	n/a
8	chr11:73372278-73372328	Caco-2	colon:	n/a
9	chr11:73372278-73372328	GM12891	blood:	n/a
10	chr11:73372278-73372328	CMK	blood:	n/a
11	chr11:73372278-73372328	GM19239	blood:	n/a
12	chr11:73372278-73372328	Hepatocyte	liver:	n/a
13	chr11:73372278-73372328	SKMC	muscle:	n/a
14	chr11:73372278-73372328	AG09319	gingival:	n/a
15	chr11:73372278-73372328	ovcar-3	ovarian:	n/a
16	chr11:73372278-73372328	PANC-1	pancreas:	n/a
17	chr11:73372278-73372328	AG09309	skin:	n/a
18	chr11:73372278-73372328	SAEC	small airway:	n/a
19	chr11:73372278-73372328	AG04450	lung:	fetal
20	chr11:73372278-73372328	GM06990	blood:	n/a
21	chr11:73372278-73372328	K562	blood:	n/a
22	chr11:73372278-73372328	MCF10A-Er-Src	breast:	n/a
23	chr11:73372278-73372328	SK-N-SH	brain:	n/a
24	chr11:73372278-73372328	BE2_C	brain:	n/a
25	chr11:73372278-73372328	HRCEpiC	kidney:	n/a
26	chr11:73372278-73372328	HepG2	liver:	n/a
27	chr11:73372278-73372328	PrEC	prostate:	n/a
28	chr11:73372278-73372328	HCPEpiC	choroid plexus:	n/a
29	chr11:73372278-73372328	HCM	heart:	n/a
30	chr11:73372278-73372328	ProgFib	skin:	n/a
31	chr11:73372278-73372328	LNCaP	prostate:	n/a
32	chr11:73372278-73372328	H1-hESC	embryonic stem cell:	embryo
33	chr11:73372278-73372328	HCF	heart:	n/a
34	chr11:73372278-73372328	A549	lung:	n/a
35	chr11:73372278-73372328	ECC-1	luminal epithelium:	n/a
36	chr11:73372278-73372328	HRE	kidney:	n/a
37	chr11:73372278-73372328	SK-N-SH_RA	brain:	n/a
38	chr11:73372278-73372328	HCT-116	colon:	n/a
39	chr11:73372278-73372328	HMEC	breast:	n/a
40	chr11:73372278-73372328	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:73372278-73372328	IMR90	lung:	fetal
42	chr11:73372278-73372328	NHBE	bronchial:	n/a
43	chr11:73372278-73372328	MCF-7	breast:	n/a
44	chr11:73372278-73372328	Hela-S3	cervix:	n/a
45	chr11:73372278-73372328	GM12878	blood:	n/a
46	chr11:73372278-73372328	HRPEpiC	eye:	n/a
47	chr11:73372278-73372328	HL-60	blood:	n/a
48	chr11:73372278-73372328	HAEpiC	amniotic membrane:	n/a
49	chr11:73372278-73372328	PFSK-1	brain:	n/a
50	chr11:73372278-73372328	AG04449	skin:	fetal

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	chr11:73061949..73062569-chr11:73371667..73372987,3	MCF-7	breast:
9	chr11:73189399..73190555-chr11:73372006..73372626,3	MCF-7	breast:
10	chr11:73113521..73114482-chr11:73371404..73372583,4	MCF-7	breast:
11	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:
12	chr11:73371739..73372578-chr11:73642460..73643367,2	MCF-7	breast:
13	chr11:73308527..73310864-chr11:73370877..73373752,3	MCF-7	breast:
14	chr11:73371809..73372966-chr11:73642075..73643041,5	MCF-7	breast:
15	chr11:73361371..73362170-chr11:73372091..73372630,2	K562	blood:
16	chr11:73240973..73241953-chr11:73371670..73372602,3	K562	blood:
17	chr11:73017996..73018959-chr11:73371785..73372637,2	MCF-7	breast:
18	chr11:73370621..73373782-chr11:73375391..73378489,3	K562	blood:
19	chr11:73018239..73018964-chr11:73371705..73372640,2	MCF-7	breast:
20	chr11:73370621..73373362-chr11:73374892..73376891,2	K562	blood:
21	chr11:73336448..73337518-chr11:73371686..73372936,6	K562	blood:
22	chr11:73114553..73115793-chr11:73371630..73372835,7	MCF-7	breast:
23	chr11:73371085..73373574-chr11:73587519..73589689,2	MCF-7	breast:
24	chr11:73071278..73072181-chr11:73371770..73372619,2	MCF-7	breast:

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10736793	0.93[CEU][hapmap];0.90[JPT][hapmap]
rs10898927	0.81[ASN][1000 genomes]
rs10898928	0.81[ASN][1000 genomes]
rs10898929	0.81[ASN][1000 genomes]
rs11235834	0.91[JPT][hapmap]
rs11235843	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235844	0.90[JPT][hapmap]
rs11235864	0.90[JPT][hapmap]
rs12366033	0.90[JPT][hapmap]
rs1464908	0.82[CEU][hapmap]
rs1568895	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1723840	0.87[CEU][hapmap];0.90[JPT][hapmap]
rs2140892	0.93[CEU][hapmap];0.90[JPT][hapmap]
rs2272248	1.00[ASN][1000 genomes]
rs3741147	0.82[JPT][hapmap]
rs3825003	0.90[JPT][hapmap]
rs4944028	0.90[JPT][hapmap]
rs4944032	0.90[JPT][hapmap]
rs4944850	0.82[JPT][hapmap]
rs4944852	1.00[ASN][1000 genomes]
rs4944856	0.85[JPT][hapmap]
rs6590	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6592531	0.93[CEU][hapmap];0.90[JPT][hapmap]
rs72974833	0.81[ASN][1000 genomes]
rs7939193	0.90[JPT][hapmap]
rs9666549	0.82[JPT][hapmap]

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73362000-73375000	Weak transcription	Aorta	Aorta
2	chr11:73363800-73385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:73371200-73372600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:73371600-73372400	Enhancers	Gastric	stomach
5	chr11:73371600-73372600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:73371600-73372600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr11:73371600-73372600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:73371600-73372600	Flanking Active TSS	Colonic Mucosa	Colon
9	chr11:73371600-73372600	Enhancers	Fetal Brain Male	brain
10	chr11:73371600-73372600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
11	chr11:73371600-73372600	Enhancers	Lung	lung
12	chr11:73371600-73372600	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr11:73371600-73372600	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:73371600-73372600	Flanking Active TSS	Osteobl	bone
15	chr11:73371600-73372800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:73371600-73372800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:73371600-73372800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:73371600-73372800	Enhancers	Spleen	Spleen
19	chr11:73371600-73372800	Flanking Active TSS	NHEK	skin
20	chr11:73371600-73374200	Strong transcription	HepG2	liver
21	chr11:73371800-73372400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:73371800-73372400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr11:73371800-73372400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:73371800-73372400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:73371800-73372400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:73371800-73372400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:73371800-73372400	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr11:73371800-73372400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr11:73371800-73372400	Enhancers	Psoas Muscle	Psoas
30	chr11:73371800-73372400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr11:73371800-73372400	Flanking Active TSS	Right Ventricle	heart
32	chr11:73371800-73372400	Flanking Active TSS	Stomach Mucosa	stomach
33	chr11:73371800-73372400	Enhancers	HSMMtube	muscle
34	chr11:73371800-73372400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:73371800-73372600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:73371800-73372600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:73371800-73372600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:73371800-73372600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
39	chr11:73371800-73372600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:73371800-73372600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr11:73371800-73372600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:73371800-73372600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr11:73371800-73372600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr11:73371800-73372600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr11:73371800-73372600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:73371800-73372600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:73371800-73372600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:73371800-73372600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:73371800-73372600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
50	chr11:73371800-73372600	Flanking Active TSS	Brain Hippocampus Middle	brain

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