Variant report

Variant	rs143328332
Chromosome Location	chr11:9594471-9594472
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	TAF1	chr11:9594342-9595651	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:9594236-9595686	PFSK-1	brain:	n/a	n/a
3	BACH1	chr11:9594339-9594796	H1-hESC	embryonic stem cell:	n/a	n/a
4	UBTF	chr11:9594411-9597195	K562	blood:	n/a	n/a
5	FOXA1	chr11:9594088-9595260	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:9594325-9595577	HUVEC	blood vessel:	n/a	n/a
7	MYC	chr11:9594410-9595561	K562	blood:	n/a	chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9595391-9595400 chr11:9595188-9595197 chr11:9595392-9595399
8	TAF1	chr11:9594283-9595978	ECC-1	luminal epithelium:	n/a	n/a
9	USF1	chr11:9594252-9594510	SK-N-SH_RA	brain:	n/a	n/a
10	MAX	chr11:9594224-9596603	GM12878	blood:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
11	E2F6	chr11:9594352-9595659	Hela-S3	cervix:	n/a	chr11:9595087-9595097 chr11:9595083-9595094 chr11:9595086-9595097 chr11:9595089-9595096 chr11:9595344-9595354 chr11:9595363-9595373 chr11:9595088-9595096 chr11:9595088-9595096 chr11:9595085-9595096 chr11:9595292-9595301 chr11:9595088-9595096 chr11:9595201-9595213
12	MAX	chr11:9594250-9595554	K562	blood:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
13	MAX	chr11:9594248-9595832	K562	blood:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
14	MYBL2	chr11:9594191-9595591	HepG2	liver:	n/a	n/a
15	NFIC	chr11:9594471-9595411	GM12878	blood:	n/a	n/a
16	ELF1	chr11:9594392-9595660	K562	blood:	n/a	chr11:9595271-9595283 chr11:9595060-9595072 chr11:9595346-9595355 chr11:9594821-9594830 chr11:9595301-9595310
17	USF2	chr11:9594208-9594556	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:9594277-9595726	GM12892	blood:	n/a	n/a
19	MXI1	chr11:9593222-9598393	SK-N-SH	brain:	n/a	n/a
20	USF1	chr11:9594134-9594563	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:9594208-9595540	U87	brain:	n/a	n/a
22	RFX5	chr11:9594414-9595535	Hela-S3	cervix:	n/a	n/a
23	USF1	chr11:9594245-9594590	K562	blood:	n/a	n/a
24	MAX	chr11:9594223-9595573	HUVEC	blood vessel:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
25	POLR2A	chr11:9594287-9597716	PBDE	blood:	n/a	n/a
26	NFIC	chr11:9594172-9595518	ECC-1	luminal epithelium:	n/a	n/a
27	TCF12	chr11:9594330-9595029	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:9594400-9594978	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:9593829-9601404	MCF10A-Er-Src	breast:	n/a	n/a
30	NFIC	chr11:9594166-9595416	ECC-1	luminal epithelium:	n/a	n/a
31	E2F6	chr11:9594200-9595394	A549	lung:	n/a	chr11:9595087-9595097 chr11:9595083-9595094 chr11:9595086-9595097 chr11:9595089-9595096 chr11:9595344-9595354 chr11:9595363-9595373 chr11:9595088-9595096 chr11:9595088-9595096 chr11:9595085-9595096 chr11:9595292-9595301 chr11:9595088-9595096 chr11:9595201-9595213
32	YY1	chr11:9594287-9594885	SK-N-SH	brain:	n/a	chr11:9594821-9594835 chr11:9594838-9594849 chr11:9594831-9594842
33	ZBTB7A	chr11:9594412-9595120	ECC-1	luminal epithelium:	n/a	n/a
34	ELF1	chr11:9594317-9595394	K562	blood:	n/a	chr11:9595271-9595283 chr11:9595060-9595072 chr11:9595346-9595355 chr11:9594821-9594830 chr11:9595301-9595310
35	HEY1	chr11:9594201-9595598	HepG2	liver:	n/a	chr11:9595294-9595309 chr11:9595297-9595312 chr11:9595341-9595356 chr11:9594830-9594845
36	USF1	chr11:9594171-9594520	A549	lung:	n/a	n/a
37	SIN3AK20	chr11:9594290-9594960	HepG2	liver:	n/a	n/a
38	SIN3A	chr11:9594255-9595851	GM12878	blood:	n/a	chr11:9595382-9595393 chr11:9594766-9594779
39	WRNIP1	chr11:9594426-9594650	GM12878	blood:	n/a	n/a
40	ZKSCAN1	chr11:9594364-9595554	Hela-S3	cervix:	n/a	n/a
41	USF1	chr11:9594243-9594734	SK-N-SH_RA	brain:	n/a	n/a
42	NR2F2	chr11:9594123-9595362	K562	blood:	n/a	n/a
43	RAD21	chr11:9594391-9595780	IMR90	lung:	n/a	chr11:9594697-9594709 chr11:9595405-9595415 chr11:9595340-9595353 chr11:9595386-9595400
44	MAX	chr11:9594214-9595556	HepG2	liver:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
45	JUND	chr11:9594333-9595379	K562	blood:	n/a	chr11:9595268-9595277
46	POLR2A	chr11:9594122-9595677	U87	brain:	n/a	n/a
47	POLR2A	chr11:9593092-9599445	IMR90	lung:	n/a	n/a
48	MYC	chr11:9594296-9595420	HepG2	liver:	n/a	chr11:9594393-9594404 chr11:9594393-9594403 chr11:9595186-9595197 chr11:9595186-9595197 chr11:9595391-9595400 chr11:9594394-9594403 chr11:9595391-9595400 chr11:9594395-9594402 chr11:9594390-9594405 chr11:9595188-9595197 chr11:9594392-9594407 chr11:9595392-9595399
49	MBD4	chr11:9594203-9594653	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:9594264-9595673	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9594436-9594486	SK-N-MC	brain:	n/a
2	chr11:9594436-9594486	PFSK-1	brain:	n/a
3	chr11:9594436-9594486	HEEpiC	esophagus:	n/a
4	chr11:9594436-9594486	NB4	blood:	n/a
5	chr11:9594436-9594486	SK-N-SH_RA	brain:	n/a
6	chr11:9594436-9594486	ECC-1	luminal epithelium:	n/a
7	chr11:9594436-9594486	PANC-1	pancreas:	n/a
8	chr11:9594436-9594486	GM12878	blood:	n/a
9	chr11:9594436-9594486	HepG2	liver:	n/a
10	chr11:9594436-9594486	GM19239	blood:	n/a
11	chr11:9594436-9594486	SK-N-SH	brain:	n/a
12	chr11:9594436-9594486	HCT-116	colon:	n/a
13	chr11:9594436-9594486	CMK	blood:	n/a
14	chr11:9594436-9594486	AG04450	lung:	fetal
15	chr11:9594436-9594486	HIPEpiC	eye:	n/a
16	chr11:9594436-9594486	HAEpiC	amniotic membrane:	n/a
17	chr11:9594436-9594486	AG04449	skin:	fetal
18	chr11:9594436-9594486	Hela-S3	cervix:	n/a
19	chr11:9594436-9594486	HL-60	blood:	n/a
20	chr11:9594436-9594486	Hepatocyte	liver:	n/a
21	chr11:9594436-9594486	AG10803	skin:	n/a
22	chr11:9594436-9594486	HCF	heart:	n/a
23	chr11:9594436-9594486	HCPEpiC	choroid plexus:	n/a
24	chr11:9594436-9594486	PrEC	prostate:	n/a
25	chr11:9594436-9594486	BE2_C	brain:	n/a
26	chr11:9594436-9594486	MCF10A-Er-Src	breast:	n/a
27	chr11:9594436-9594486	IMR90	lung:	fetal
28	chr11:9594436-9594486	SKMC	muscle:	n/a
29	chr11:9594436-9594486	A549	lung:	n/a
30	chr11:9594436-9594486	BJ	skin:	n/a
31	chr11:9594436-9594486	H1-hESC	embryonic stem cell:	embryo
32	chr11:9594436-9594486	Jurkat	blood:	n/a
33	chr11:9594436-9594486	NT2-D1	testis:	n/a
34	chr11:9594436-9594486	HNPCEpiC	eye:	n/a
35	chr11:9594436-9594486	NHDF-neo	bronchial:	n/a
36	chr11:9594436-9594486	HRPEpiC	eye:	n/a
37	chr11:9594436-9594486	ProgFib	skin:	n/a
38	chr11:9594436-9594486	AoSMC	blood vessel:	n/a
39	chr11:9594436-9594486	NHBE	bronchial:	n/a
40	chr11:9594436-9594486	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:9594436-9594486	HRCEpiC	kidney:	n/a
42	chr11:9594436-9594486	SAEC	small airway:	n/a
43	chr11:9594436-9594486	HRE	kidney:	n/a
44	chr11:9594436-9594486	NH-A	brain:	n/a
45	chr11:9594436-9594486	U87	brain:	n/a
46	chr11:9594436-9594486	RPTEC	kidney:	n/a
47	chr11:9594436-9594486	AG09309	skin:	n/a
48	chr11:9594436-9594486	GM12891	blood:	n/a
49	chr11:9594436-9594486	GM12892	blood:	n/a
50	chr11:9594436-9594486	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr11:9594432..9594977-chr20:30194249..30195144,2	Hela-S3	cervix:
2	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
3	chr11:9594244..9596039-chr11:9777459..9779743,2	MCF-7	breast:
4	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
5	chr11:9482166..9483015-chr11:9594207..9594915,2	Hela-S3	cervix:
6	chr11:8702253..8704416-chr11:9593339..9594880,2	MCF-7	breast:
7	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
8	chr11:9571322..9573839-chr11:9593135..9594742,2	K562	blood:
9	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
10	chr11:9594404..9594909-chr19:56632177..56632899,2	Hela-S3	cervix:
11	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
12	chr11:9594464..9595108-chr22:30591798..30592673,2	Hela-S3	cervix:
13	chr11:9593146..9594870-chr11:9635191..9636726,2	MCF-7	breast:
14	chr11:9594272..9594821-chr17:25621066..25621930,2	Hela-S3	cervix:

Variant related genes	Relation type
WEE1	TF binding region
WEE1	CpG island
ENSG00000166441	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000175356	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000109046	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv3365334	chr11:9593876-9597474	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	esv3439005	chr11:9593901-9596949	Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	esv3395275	chr11:9594426-9597274	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9591600-9594600	Weak transcription	Small Intestine	intestine
2	chr11:9591600-9596200	Weak transcription	Fetal Heart	heart
3	chr11:9593600-9595800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:9593600-9596200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:9593600-9596600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:9593600-9598000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:9593800-9594600	Flanking Active TSS	Fetal Muscle Trunk	muscle
8	chr11:9593800-9594600	Flanking Active TSS	Fetal Muscle Leg	muscle
9	chr11:9593800-9594600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:9593800-9594600	Flanking Active TSS	Dnd41	blood
11	chr11:9593800-9594800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:9593800-9594800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:9593800-9596400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:9593800-9596400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:9593800-9596400	Active TSS	HepG2	liver
16	chr11:9593800-9596400	Active TSS	Osteobl	bone
17	chr11:9593800-9596600	Active TSS	Brain Hippocampus Middle	brain
18	chr11:9593800-9597200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:9593800-9597400	Active TSS	A549	lung
20	chr11:9593800-9597800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:9593800-9598200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:9593800-9599000	Active TSS	Psoas Muscle	Psoas
23	chr11:9593800-9599600	Active TSS	Brain Germinal Matrix	brain
24	chr11:9593800-9599800	Active TSS	HSMMtube	muscle
25	chr11:9594000-9594600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:9594000-9594600	Active TSS	Stomach Smooth Muscle	stomach
27	chr11:9594000-9594800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:9594000-9594800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:9594000-9594800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:9594000-9594800	Flanking Active TSS	Placenta	Placenta
31	chr11:9594000-9594800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:9594000-9595000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:9594000-9595000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:9594000-9596200	Active TSS	Adipose Nuclei	Adipose
35	chr11:9594000-9596400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:9594000-9596400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:9594000-9596400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:9594000-9597200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:9594000-9597200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:9594000-9597800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:9594000-9597800	Active TSS	Duodenum Mucosa	Duodenum
42	chr11:9594000-9598000	Active TSS	NHEK	skin
43	chr11:9594000-9598200	Active TSS	HSMM	muscle
44	chr11:9594000-9598600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr11:9594000-9598800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:9594000-9599400	Active TSS	Fetal Brain Female	brain
47	chr11:9594200-9594600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:9594200-9594600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:9594200-9594600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:9594200-9594600	Active TSS	Colon Smooth Muscle	Colon

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