Variant report

Variant	rs528581849
Chromosome Location	chr11:73018356-73018357
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	chr11:73018144-73018714	H1-hESC	embryonic stem cell:	n/a	chr11:73018483-73018502
2	CTCF	chr11:73017544-73019354	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
3	TEAD4	chr11:73017872-73019160	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr11:73018005-73019570	H1-hESC	embryonic stem cell:	n/a	chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
5	POLR2A	chr11:73018198-73020897	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:73018309-73018641	Medullo	brain:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
7	CHD2	chr11:73018125-73018637	HepG2	liver:	n/a	n/a
8	SMC3	chr11:73018138-73018711	HepG2	liver:	n/a	chr11:73018484-73018498
9	POLR2A	chr11:73018323-73020776	HCT-116	colon:	n/a	n/a
10	PAX5	chr11:73018345-73018632	GM12878	blood:	n/a	n/a
11	JUN	chr11:73018327-73018625	K562	blood:	n/a	n/a
12	PBX3	chr11:73017961-73019645	A549	lung:	n/a	n/a
13	YY1	chr11:73018335-73018592	HCT-116	colon:	n/a	n/a
14	CTCF	chr11:73018350-73018650	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
15	CEBPB	chr11:73018263-73018592	K562	blood:	n/a	n/a
16	YY1	chr11:73018196-73018752	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr11:73018156-73018776	ECC-1	luminal epithelium:	n/a	chr11:73018483-73018502
18	CTCF	chr11:73018304-73018662	Kidney_OC	kidney:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
19	NFIC	chr11:73017866-73020697	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr11:73018113-73018665	GM19240	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
21	CTCF	chr11:73018324-73018631	GM12878	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
22	POLR2A	chr11:73018315-73019974	GM19099	blood:	n/a	n/a
23	CTCF	chr11:73018354-73018619	Hela-S3	cervix:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
24	GABPA	chr11:73018308-73018639	H1-hESC	embryonic stem cell:	n/a	chr11:73018618-73018627
25	POLR2A	chr11:73018248-73018552	MCF10A-Er-Src	breast:	n/a	n/a
26	YY1	chr11:73018250-73018680	GM12892	blood:	n/a	n/a
27	MYC	chr11:73018316-73020687	Hela-S3	cervix:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
28	EP300	chr11:73018275-73018521	GM12878	blood:	n/a	n/a
29	CBX3	chr11:73018179-73018623	K562	blood:	n/a	n/a
30	ELF1	chr11:73018350-73018692	GM12878	blood:	n/a	n/a
31	TCF12	chr11:73018210-73018644	A549	lung:	n/a	chr11:73018579-73018589
32	ZNF143	chr11:73018270-73019174	Hela-S3	cervix:	n/a	chr11:73018775-73018793
33	STAT3	chr11:73018296-73018496	GM12878	blood:	n/a	n/a
34	CTCF	chr11:73018254-73018722	H1-hESC	embryonic stem cell:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
35	HCFC1	chr11:73017853-73021101	Hela-S3	cervix:	n/a	n/a
36	ARID3A	chr11:73018343-73018570	K562	blood:	n/a	n/a
37	PML	chr11:73018100-73018688	GM12878	blood:	n/a	n/a
38	MAX	chr11:73018299-73020691	SK-N-SH	brain:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
39	HDAC2	chr11:73018269-73018729	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr11:73018192-73018634	A549	lung:	n/a	n/a
41	POLR2A	chr11:73018032-73019552	HL-60	blood:	n/a	n/a
42	MAX	chr11:73018184-73020563	A549	lung:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
43	SIN3AK20	chr11:73018189-73019417	MCF-7	breast:	n/a	n/a
44	ATF2	chr11:73018243-73018635	GM12878	blood:	n/a	n/a
45	SMC3	chr11:73016942-73021131	SK-N-SH	brain:	n/a	chr11:73018484-73018498 chr11:73017587-73017594 chr11:73019010-73019017
46	CEBPB	chr11:73018197-73020491	Hela-S3	cervix:	n/a	n/a
47	MAX	chr11:73018239-73020010	SK-N-SH	brain:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
48	SRF	chr11:73018003-73018757	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:73018352-73018606	H1-hESC	embryonic stem cell:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
50	TCF12	chr11:73018185-73020781	SK-N-SH	brain:	n/a	chr11:73018579-73018589

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73018312-73018362	PrEC	prostate:	n/a
2	chr11:73018312-73018362	Jurkat	blood:	n/a
3	chr11:73018312-73018362	SK-N-SH_RA	brain:	n/a
4	chr11:73018312-73018362	NHBE	bronchial:	n/a
5	chr11:73018312-73018362	AoSMC	blood vessel:	n/a
6	chr11:73018312-73018362	AG04449	skin:	fetal
7	chr11:73018312-73018362	Hela-S3	cervix:	n/a
8	chr11:73018312-73018362	HRCEpiC	kidney:	n/a
9	chr11:73018312-73018362	K562	blood:	n/a
10	chr11:73018312-73018362	HIPEpiC	eye:	n/a
11	chr11:73018312-73018362	NB4	blood:	n/a
12	chr11:73018312-73018362	H1-hESC	embryonic stem cell:	embryo
13	chr11:73018312-73018362	AG04450	lung:	fetal
14	chr11:73018312-73018362	SK-N-MC	brain:	n/a
15	chr11:73018312-73018362	AG09309	skin:	n/a
16	chr11:73018312-73018362	GM12891	blood:	n/a
17	chr11:73018312-73018362	PANC-1	pancreas:	n/a
18	chr11:73018312-73018362	SKMC	muscle:	n/a
19	chr11:73018312-73018362	MCF-7	breast:	n/a
20	chr11:73018312-73018362	SAEC	small airway:	n/a
21	chr11:73018312-73018362	CMK	blood:	n/a
22	chr11:73018312-73018362	BJ	skin:	n/a
23	chr11:73018312-73018362	NH-A	brain:	n/a
24	chr11:73018312-73018362	LNCaP	prostate:	n/a
25	chr11:73018312-73018362	HNPCEpiC	eye:	n/a
26	chr11:73018312-73018362	HUVEC	blood vessel:	n/a
27	chr11:73018312-73018362	ProgFib	skin:	n/a
28	chr11:73018312-73018362	HRE	kidney:	n/a
29	chr11:73018312-73018362	BE2_C	brain:	n/a
30	chr11:73018312-73018362	IMR90	lung:	fetal
31	chr11:73018312-73018362	T-47D	breast:	n/a
32	chr11:73018312-73018362	GM06990	blood:	n/a
33	chr11:73018312-73018362	Caco-2	colon:	n/a
34	chr11:73018312-73018362	HCT-116	colon:	n/a
35	chr11:73018312-73018362	GM12892	blood:	n/a
36	chr11:73018312-73018362	PFSK-1	brain:	n/a
37	chr11:73018312-73018362	HAEpiC	amniotic membrane:	n/a
38	chr11:73018312-73018362	GM12878	blood:	n/a
39	chr11:73018312-73018362	HMEC	breast:	n/a
40	chr11:73018312-73018362	RPTEC	kidney:	n/a
41	chr11:73018312-73018362	NT2-D1	testis:	n/a
42	chr11:73018312-73018362	HCF	heart:	n/a
43	chr11:73018312-73018362	HRPEpiC	eye:	n/a
44	chr11:73018312-73018362	ECC-1	luminal epithelium:	n/a
45	chr11:73018312-73018362	NHDF-neo	bronchial:	n/a
46	chr11:73018312-73018362	HEK293	kidney:	embryo
47	chr11:73018312-73018362	U87	brain:	n/a
48	chr11:73018312-73018362	HL-60	blood:	n/a
49	chr11:73018312-73018362	GM19239	blood:	n/a
50	chr11:73018312-73018362	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73003630..73006401-chr11:73018287..73021432,3	MCF-7	breast:
2	chr11:73017996..73018959-chr11:73371785..73372637,2	MCF-7	breast:
3	chr11:73017966..73018926-chr11:73046011..73047270,11	MCF-7	breast:
4	chr11:73018239..73018964-chr11:73371705..73372640,2	MCF-7	breast:
5	chr11:73018081..73018732-chr11:73241033..73241875,2	K562	blood:
6	chr11:73017499..73019012-chr11:73106974..73109687,2	MCF-7	breast:
7	chr11:73017965..73019018-chr11:73046229..73047203,8	MCF-7	breast:
8	chr11:73018047..73019003-chr11:73104100..73105328,9	K562	blood:
9	chr11:73012187..73014199-chr11:73016875..73018746,2	K562	blood:
10	chr11:73018021..73018985-chr11:73071144..73072120,7	MCF-7	breast:
11	chr11:73018112..73018964-chr11:73045938..73047172,9	K562	blood:
12	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
13	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
14	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:
15	chr11:73018219..73018909-chr11:73071294..73072092,3	MCF-7	breast:
16	chr11:73006222..73006797-chr11:73018007..73018967,3	K562	blood:
17	chr11:73000325..73002595-chr11:73016904..73019297,2	MCF-7	breast:
18	chr11:73006231..73006757-chr11:73018027..73018977,2	MCF-7	breast:
19	chr11:73018036..73019056-chr11:73104373..73105309,6	MCF-7	breast:
20	chr11:73008316..73010568-chr11:73017508..73019112,2	MCF-7	breast:
21	chr11:73017077..73020076-chr11:73086849..73089366,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM168A-2	chr11:73018280-73018601	ENSG00000257038.1

Variant related genes	Relation type
ARHGEF17	TF binding region
ARHGEF17	CpG island
ENSG00000054967	Chromatin interaction
ENSG00000171631	Chromatin interaction
ENSG00000256928	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3440775	chr11:73017529-73020077	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73017000-73018800	Enhancers	Spleen	Spleen
2	chr11:73017200-73018800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:73017400-73018400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:73017600-73018400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:73017600-73018600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:73017600-73018600	Enhancers	Gastric	stomach
7	chr11:73017800-73018400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:73017800-73018400	Flanking Active TSS	Hela-S3	cervix
9	chr11:73017800-73018400	Flanking Active TSS	HepG2	liver
10	chr11:73017800-73018600	Flanking Active TSS	NHEK	skin
11	chr11:73017800-73021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:73018000-73018400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:73018000-73018400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:73018000-73018400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:73018000-73018400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:73018000-73018400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr11:73018000-73018400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:73018000-73018400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:73018000-73018400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:73018000-73018400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:73018000-73018400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:73018000-73018400	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr11:73018000-73018400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr11:73018000-73018400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:73018000-73018400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr11:73018000-73018400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:73018000-73018400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:73018000-73018400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:73018000-73018400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:73018000-73018400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:73018000-73018400	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr11:73018000-73018400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr11:73018000-73018400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr11:73018000-73018400	Flanking Active TSS	Colonic Mucosa	Colon
35	chr11:73018000-73018400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr11:73018000-73018400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr11:73018000-73018400	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr11:73018000-73018400	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr11:73018000-73018400	Flanking Active TSS	Fetal Kidney	kidney
40	chr11:73018000-73018400	Flanking Active TSS	Fetal Lung	lung
41	chr11:73018000-73018400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr11:73018000-73018400	Flanking Active TSS	Fetal Stomach	stomach
43	chr11:73018000-73018400	Flanking Active TSS	Pancreas	Pancrea
44	chr11:73018000-73018400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr11:73018000-73018400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr11:73018000-73018400	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr11:73018000-73018400	Flanking Active TSS	Right Ventricle	heart
48	chr11:73018000-73018400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr11:73018000-73018400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:73018000-73018400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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