Variant report

Variant	rs529300518
Chromosome Location	chr11:73018841-73018842
allele	C/T
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	chr11:73017544-73019354	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
2	TEAD4	chr11:73017872-73019160	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr11:73018005-73019570	H1-hESC	embryonic stem cell:	n/a	chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
4	POLR2A	chr11:73018198-73020897	Hela-S3	cervix:	n/a	n/a
5	REST	chr11:73018776-73019092	HepG2	liver:	n/a	chr11:73018866-73018879 chr11:73019003-73019016
6	IRF1	chr11:73018367-73019226	K562	blood:	n/a	chr11:73018801-73018815 chr11:73018706-73018720
7	YY1	chr11:73018772-73020551	A549	lung:	n/a	chr11:73019275-73019284 chr11:73019273-73019287 chr11:73019282-73019291 chr11:73019470-73019484 chr11:73018963-73018975 chr11:73018967-73018975 chr11:73019622-73019633
8	TCF7L2	chr11:73018360-73019013	HCT-116	colon:	n/a	n/a
9	POLR2A	chr11:73018323-73020776	HCT-116	colon:	n/a	n/a
10	POLR2A	chr11:73018753-73020747	GM12878	blood:	n/a	n/a
11	TCF12	chr11:73018827-73019256	GM12878	blood:	n/a	n/a
12	PBX3	chr11:73017961-73019645	A549	lung:	n/a	n/a
13	MAX	chr11:73018785-73019374	K562	blood:	n/a	chr11:73019218-73019225
14	POLR2A	chr11:73018783-73019217	H1-neurons	neurons:	n/a	n/a
15	PML	chr11:73018780-73019457	MCF-7	breast:	n/a	n/a
16	NFIC	chr11:73017866-73020697	ECC-1	luminal epithelium:	n/a	n/a
17	TAF1	chr11:73018773-73019107	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:73018530-73019992	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:73018315-73019974	GM19099	blood:	n/a	n/a
20	EBF1	chr11:73018362-73019676	GM12878	blood:	n/a	chr11:73019093-73019102 chr11:73019092-73019103 chr11:73019132-73019143
21	MYC	chr11:73018316-73020687	Hela-S3	cervix:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
22	POLR2A	chr11:73018784-73019236	PFSK-1	brain:	n/a	n/a
23	NFIC	chr11:73018816-73020726	ECC-1	luminal epithelium:	n/a	n/a
24	MYC	chr11:73018536-73019251	MCF-7	breast:	n/a	chr11:73019218-73019225
25	ZNF143	chr11:73018270-73019174	Hela-S3	cervix:	n/a	chr11:73018775-73018793
26	POLR2A	chr11:73018791-73019510	HCT-116	colon:	n/a	n/a
27	HCFC1	chr11:73017853-73021101	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:73018797-73019243	SK-N-SH	brain:	n/a	n/a
29	MAX	chr11:73018299-73020691	SK-N-SH	brain:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
30	SIN3AK20	chr11:73018793-73019282	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr11:73018792-73019096	GM12892	blood:	n/a	chr11:73018963-73018975 chr11:73018967-73018975
32	POLR2A	chr11:73018776-73020206	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:73018032-73019552	HL-60	blood:	n/a	n/a
34	MAX	chr11:73018184-73020563	A549	lung:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
35	POLR2A	chr11:73018775-73019778	GM19193	blood:	n/a	n/a
36	SIN3AK20	chr11:73018189-73019417	MCF-7	breast:	n/a	n/a
37	MTA3	chr11:73018769-73019320	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:73018746-73019052	K562	blood:	n/a	n/a
39	SMC3	chr11:73016942-73021131	SK-N-SH	brain:	n/a	chr11:73018484-73018498 chr11:73017587-73017594 chr11:73019010-73019017
40	CEBPB	chr11:73018197-73020491	Hela-S3	cervix:	n/a	n/a
41	MAX	chr11:73018239-73020010	SK-N-SH	brain:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
42	POLR2A	chr11:73018660-73020754	Hela-S3	cervix:	n/a	n/a
43	TCF12	chr11:73018185-73020781	SK-N-SH	brain:	n/a	chr11:73018579-73018589
44	MAZ	chr11:73018202-73020597	Hela-S3	cervix:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
45	POLR2A	chr11:73018720-73020830	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAZ	chr11:73018281-73019989	GM12878	blood:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
47	MAX	chr11:73017906-73020898	ECC-1	luminal epithelium:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
48	POLR2A	chr11:73018776-73019956	GM18505	blood:	n/a	n/a
49	GATA3	chr11:73018734-73019223	T-47D	breast:	n/a	n/a
50	RCOR1	chr11:73018273-73020558	Hela-S3	cervix:	n/a	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	chr11:72979299..72983458-chr11:73018365..73020880,3	MCF-7	breast:
5	chr11:73018829..73019727-chr17:7137301..7137989,2	Hela-S3	cervix:
6	chr11:73018744..73019319-chr12:12509971..12510495,2	HCT-116	colon:
7	chr11:73018239..73018964-chr11:73371705..73372640,2	MCF-7	breast:
8	chr11:73017499..73019012-chr11:73106974..73109687,2	MCF-7	breast:
9	chr11:73017965..73019018-chr11:73046229..73047203,8	MCF-7	breast:
10	chr11:73018047..73019003-chr11:73104100..73105328,9	K562	blood:
11	chr11:72851821..72853715-chr11:73018697..73020407,2	K562	blood:
12	chr1:89149849..89150759-chr11:73018638..73019215,2	NB4	blood:
13	chr11:73018564..73020076-chr11:73087520..73089366,2	K562	blood:
14	chr11:73018021..73018985-chr11:73071144..73072120,7	MCF-7	breast:
15	chr11:73018112..73018964-chr11:73045938..73047172,9	K562	blood:
16	chr11:73018458..73018974-chr11:73071154..73071755,2	K562	blood:
17	chr11:73018495..73019103-chr6:43149516..43150071,2	Hela-S3	cervix:
18	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
19	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
20	chr11:72925831..72928740-chr11:73018599..73020225,2	MCF-7	breast:
21	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:
22	chr11:73000300..73001112-chr11:73018427..73018969,2	K562	blood:
23	chr11:73018219..73018909-chr11:73071294..73072092,3	MCF-7	breast:
24	chr11:73006222..73006797-chr11:73018007..73018967,3	K562	blood:
25	chr11:73000325..73002595-chr11:73016904..73019297,2	MCF-7	breast:
26	chr11:73006231..73006757-chr11:73018027..73018977,2	MCF-7	breast:
27	chr11:73018036..73019056-chr11:73104373..73105309,6	MCF-7	breast:
28	chr11:73008316..73010568-chr11:73017508..73019112,2	MCF-7	breast:
29	chr1:71546436..71547329-chr11:73018653..73019398,2	Hela-S3	cervix:
30	chr11:73017077..73020076-chr11:73086849..73089366,3	K562	blood:

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000132485	Chromatin interaction
ENSG00000004975	Chromatin interaction
ENSG00000112659	Chromatin interaction
ENSG00000137478	Chromatin interaction
ENSG00000229956	Chromatin interaction
ENSG00000215841	Chromatin interaction
ENSG00000256928	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000165714	Chromatin interaction
ENSG00000171631	Chromatin interaction
ENSG00000205791	Chromatin interaction
ENSG00000065243	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73017800-73021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:73018000-73019000	Active TSS	Thymus	Thymus
3	chr11:73018000-73019400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:73018000-73019400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:73018000-73019600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:73018000-73021000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:73018200-73019600	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:73018200-73019600	Active TSS	Psoas Muscle	Psoas
9	chr11:73018200-73019800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:73018200-73020200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:73018200-73020600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:73018200-73020800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:73018200-73020800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:73018200-73020800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:73018200-73020800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:73018200-73020800	Active TSS	Ovary	ovary
17	chr11:73018200-73021000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:73018200-73021000	Active TSS	Left Ventricle	heart
19	chr11:73018200-73022200	Active TSS	Aorta	Aorta
20	chr11:73018400-73019000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:73018400-73019000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:73018400-73019000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:73018400-73019000	Active TSS	Brain Germinal Matrix	brain
24	chr11:73018400-73019000	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:73018400-73019000	Active TSS	Right Atrium	heart
26	chr11:73018400-73019000	Active TSS	HMEC	breast
27	chr11:73018400-73019000	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:73018400-73019000	Active TSS	NH-A	brain
29	chr11:73018400-73019200	Active TSS	Fetal Brain Female	brain
30	chr11:73018400-73019200	Active TSS	Fetal Heart	heart
31	chr11:73018400-73019200	Bivalent/Poised TSS	Stomach Mucosa	stomach
32	chr11:73018400-73019400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr11:73018400-73019400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:73018400-73019400	Active TSS	Brain Hippocampus Middle	brain
35	chr11:73018400-73019400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:73018400-73019400	Active TSS	Colonic Mucosa	Colon
37	chr11:73018400-73019600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:73018400-73019600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:73018400-73019600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:73018400-73019600	Active TSS	Primary T cells from cord blood	blood
41	chr11:73018400-73019600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:73018400-73019600	Active TSS	K562	blood
43	chr11:73018400-73019800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:73018400-73020000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:73018400-73020000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr11:73018400-73020000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:73018400-73020200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:73018400-73020200	Active TSS	Stomach Smooth Muscle	stomach
49	chr11:73018400-73020400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:73018400-73020400	Active TSS	Fetal Intestine Small	intestine

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