Variant report

Variant	rs528395741
Chromosome Location	chr11:59382891-59382892
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	RELA	chr11:59382506-59384310	GM12891	blood:	n/a	n/a
2	TCF7L2	chr11:59382617-59384072	HCT-116	colon:	n/a	n/a
3	POLR2A	chr11:59382269-59384201	K562	blood:	n/a	n/a
4	POLR2A	chr11:59382602-59383390	GM10847	blood:	n/a	n/a
5	POLR2A	chr11:59382265-59383538	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:59382102-59382948	GM12891	blood:	n/a	n/a
7	YY1	chr11:59382527-59382934	ECC-1	luminal epithelium:	n/a	chr11:59382683-59382697
8	CHD2	chr11:59382454-59384139	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr11:59382593-59384228	GM12878	blood:	n/a	chr11:59383587-59383600
10	YY1	chr11:59382634-59383329	H1-hESC	embryonic stem cell:	n/a	chr11:59382683-59382697
11	MYC	chr11:59382388-59384323	NB4	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
12	ELF1	chr11:59382551-59384345	K562	blood:	n/a	chr11:59382687-59382699
13	ZEB1	chr11:59382438-59383059	GM12878	blood:	n/a	n/a
14	GABPA	chr11:59382476-59383934	MCF-7	breast:	n/a	n/a
15	HCFC1	chr11:59382375-59384474	Hela-S3	cervix:	n/a	n/a
16	ELF1	chr11:59382450-59383632	GM12878	blood:	n/a	chr11:59382687-59382699
17	MYC	chr11:59381776-59384318	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
18	SIN3AK20	chr11:59382455-59382908	H1-hESC	embryonic stem cell:	n/a	n/a
19	GABPA	chr11:59382507-59382903	K562	blood:	n/a	n/a
20	RFX5	chr11:59382116-59384446	SK-N-SH	brain:	n/a	chr11:59383441-59383450 chr11:59383539-59383548 chr11:59383423-59383432
21	TAF1	chr11:59382632-59384292	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr11:59382032-59384388	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
23	GABPA	chr11:59382497-59382978	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:59382388-59383399	GM12878	blood:	n/a	n/a
25	RUNX3	chr11:59382559-59382942	GM12878	blood:	n/a	n/a
26	CTCF	chr11:59382880-59383030	GM12871	blood:	n/a	n/a
27	ELF1	chr11:59382486-59384312	GM12878	blood:	n/a	chr11:59382687-59382699
28	MAX	chr11:59382276-59384312	HepG2	liver:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
29	POLR2A	chr11:59382448-59382898	K562	blood:	n/a	n/a
30	SREBP1	chr11:59382112-59385589	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:59381287-59384402	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:59382129-59384401	K562	blood:	n/a	n/a
33	PML	chr11:59382043-59384425	GM12878	blood:	n/a	n/a
34	HCFC1	chr11:59382401-59384356	K562	blood:	n/a	n/a
35	POLR2A	chr11:59382573-59384261	HEK293	kidney:	n/a	n/a
36	GABPA	chr11:59382421-59383788	K562	blood:	n/a	n/a
37	POLR2A	chr11:59382576-59383364	K562	blood:	n/a	n/a
38	JUND	chr11:59382477-59382895	A549	lung:	n/a	n/a
39	GABPA	chr11:59382597-59382905	GM12878	blood:	n/a	n/a
40	NR2C2	chr11:59382204-59383609	Hela-S3	cervix:	n/a	chr11:59382758-59382767
41	MAX	chr11:59382045-59384383	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
42	JUN	chr11:59381851-59384464	K562	blood:	n/a	chr11:59382373-59382382 chr11:59381962-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59383442-59383451 chr11:59383245-59383254 chr11:59381962-59381972
43	POLR2A	chr11:59382200-59384325	K562	blood:	n/a	n/a
44	POLR2A	chr11:59382081-59384393	H1-hESC	embryonic stem cell:	n/a	n/a
45	YY1	chr11:59382458-59384103	GM12878	blood:	n/a	chr11:59382683-59382697
46	SP1	chr11:59382523-59384224	HCT-116	colon:	n/a	chr11:59383247-59383259 chr11:59383731-59383752 chr11:59383903-59383913 chr11:59383597-59383608 chr11:59383242-59383254 chr11:59383772-59383786 chr11:59383243-59383252 chr11:59383903-59383913 chr11:59383203-59383216 chr11:59383243-59383252 chr11:59383248-59383257 chr11:59382575-59382584 chr11:59383874-59383895 chr11:59382570-59382583 chr11:59383529-59383550 chr11:59383413-59383434 chr11:59383777-59383786 chr11:59382662-59382669 chr11:59383626-59383637 chr11:59383244-59383253
47	TBL1XR1	chr11:59382610-59384297	GM12878	blood:	n/a	n/a
48	YY1	chr11:59382533-59383632	GM12892	blood:	n/a	chr11:59382683-59382697
49	ZBTB7A	chr11:59382791-59383337	K562	blood:	n/a	n/a
50	MXI1	chr11:59382251-59384323	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59382877-59382927	Hela-S3	cervix:	n/a
2	chr11:59382877-59382927	HMEC	breast:	n/a
3	chr11:59382877-59382927	NT2-D1	testis:	n/a
4	chr11:59382877-59382927	NHDF-neo	bronchial:	n/a
5	chr11:59382877-59382927	GM12878	blood:	n/a
6	chr11:59382877-59382927	Jurkat	blood:	n/a
7	chr11:59382877-59382927	HRE	kidney:	n/a
8	chr11:59382877-59382927	AG04450	lung:	fetal
9	chr11:59382877-59382927	HEEpiC	esophagus:	n/a
10	chr11:59382877-59382927	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:59382877-59382927	HRCEpiC	kidney:	n/a
12	chr11:59382877-59382927	T-47D	breast:	n/a
13	chr11:59382877-59382927	IMR90	lung:	fetal
14	chr11:59382877-59382927	AG04449	skin:	fetal
15	chr11:59382877-59382927	PFSK-1	brain:	n/a
16	chr11:59382877-59382927	HCF	heart:	n/a
17	chr11:59382877-59382927	BE2_C	brain:	n/a
18	chr11:59382877-59382927	PrEC	prostate:	n/a
19	chr11:59382877-59382927	AoSMC	blood vessel:	n/a
20	chr11:59382877-59382927	HRPEpiC	eye:	n/a
21	chr11:59382877-59382927	U87	brain:	n/a
22	chr11:59382877-59382927	HAEpiC	amniotic membrane:	n/a
23	chr11:59382877-59382927	AG09319	gingival:	n/a
24	chr11:59382877-59382927	K562	blood:	n/a
25	chr11:59382877-59382927	SAEC	small airway:	n/a
26	chr11:59382877-59382927	MCF10A-Er-Src	breast:	n/a
27	chr11:59382877-59382927	GM12891	blood:	n/a
28	chr11:59382877-59382927	LNCaP	prostate:	n/a
29	chr11:59382877-59382927	SK-N-MC	brain:	n/a
30	chr11:59382877-59382927	ECC-1	luminal epithelium:	n/a
31	chr11:59382877-59382927	HUVEC	blood vessel:	n/a
32	chr11:59382877-59382927	GM12892	blood:	n/a
33	chr11:59382877-59382927	PANC-1	pancreas:	n/a
34	chr11:59382877-59382927	ovcar-3	ovarian:	n/a
35	chr11:59382877-59382927	HEK293	kidney:	embryo
36	chr11:59382877-59382927	HNPCEpiC	eye:	n/a
37	chr11:59382877-59382927	ProgFib	skin:	n/a
38	chr11:59382877-59382927	HL-60	blood:	n/a
39	chr11:59382877-59382927	A549	lung:	n/a
40	chr11:59382877-59382927	SKMC	muscle:	n/a
41	chr11:59382877-59382927	HIPEpiC	eye:	n/a
42	chr11:59382877-59382927	HCT-116	colon:	n/a
43	chr11:59382877-59382927	NHBE	bronchial:	n/a
44	chr11:59382877-59382927	RPTEC	kidney:	n/a
45	chr11:59382877-59382927	Caco-2	colon:	n/a
46	chr11:59382877-59382927	HepG2	liver:	n/a
47	chr11:59382877-59382927	AG09309	skin:	n/a
48	chr11:59382877-59382927	HCM	heart:	n/a
49	chr11:59382877-59382927	NB4	blood:	n/a
50	chr11:59382877-59382927	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
2	chr11:59382346..59384021-chr11:59576839..59579644,2	K562	blood:
3	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
4	chr11:59379146..59381021-chr11:59381463..59383297,2	MCF-7	breast:
5	chr11:59380994..59383091-chr11:59446545..59448432,2	K562	blood:
6	chr11:59382728..59383524-chr6:31783159..31783746,2	Hela-S3	cervix:
7	chr11:59373266..59379105-chr11:59379660..59383510,5	MCF-7	breast:
8	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
9	chr11:59369187..59371019-chr11:59381585..59383481,2	MCF-7	breast:
10	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
11	chr11:59382734..59385576-chr11:59440781..59442919,2	K562	blood:
12	chr11:59332034..59337600-chr11:59380778..59383923,5	K562	blood:
13	chr11:59381028..59383632-chr11:59387004..59389826,3	K562	blood:
14	chr11:59357778..59359857-chr11:59379899..59383236,3	K562	blood:
15	chr11:59382737..59383278-chr13:111365369..111365914,2	Hela-S3	cervix:
16	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
17	chr1:23670573..23671130-chr11:59382477..59382982,2	Hela-S3	cervix:
18	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
19	chr11:59367491..59370423-chr11:59380896..59384148,4	K562	blood:
20	chr11:59327475..59330060-chr11:59381628..59383602,2	K562	blood:

Variant related genes	Relation type
ENSG00000255139	TF binding region
ENSG00000255139	CpG island
ENSG00000255008	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000254477	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000166902	Chromatin interaction
ENSG00000125944	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv1833978	chr11:59377543-59383631	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1842135	chr11:59377543-59383631	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3356175	chr11:59382001-59384549	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1795788	chr11:59382306-59383787	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1803734	chr11:59382306-59383787	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv555148	chr11:59382306-59383823	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr11:59380000-59384400	Active TSS	Psoas Muscle	Psoas
2	chr11:59380600-59384400	Active TSS	Fetal Muscle Trunk	muscle
3	chr11:59381400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:59381400-59384400	Active TSS	Aorta	Aorta
5	chr11:59381400-59384400	Active TSS	Ovary	ovary
6	chr11:59381400-59384600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:59381600-59384000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:59381600-59384400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:59381600-59384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:59381800-59384000	Active TSS	GM12878-XiMat	blood
11	chr11:59381800-59384000	Active TSS	K562	blood
12	chr11:59381800-59384000	Active TSS	NHDF-Ad	bronchial
13	chr11:59381800-59384200	Active TSS	Fetal Intestine Small	intestine
14	chr11:59381800-59384400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr11:59381800-59384400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:59381800-59384400	Active TSS	Left Ventricle	heart
17	chr11:59382000-59383400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:59382000-59384000	Active TSS	HMEC	breast
19	chr11:59382000-59384000	Active TSS	HSMMtube	muscle
20	chr11:59382000-59384200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:59382000-59384200	Active TSS	Pancreas	Pancrea
22	chr11:59382000-59384400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr11:59382000-59384400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:59382000-59384400	Active TSS	Esophagus	oesophagus
25	chr11:59382200-59383200	Active TSS	Gastric	stomach
26	chr11:59382200-59383400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr11:59382200-59384000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:59382200-59384200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:59382200-59384400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:59382200-59384400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:59382200-59384400	Active TSS	Lung	lung
32	chr11:59382200-59384400	Active TSS	Small Intestine	intestine
33	chr11:59382200-59384600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:59382200-59384800	Active TSS	A549	lung
35	chr11:59382400-59383000	Active TSS	Right Atrium	heart
36	chr11:59382400-59383400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr11:59382400-59383400	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:59382400-59383400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr11:59382400-59384000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:59382400-59384000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:59382400-59384000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:59382400-59384000	Active TSS	Placenta	Placenta
43	chr11:59382400-59384000	Active TSS	Rectal Smooth Muscle	rectum
44	chr11:59382400-59384000	Active TSS	Hela-S3	cervix
45	chr11:59382400-59384000	Active TSS	HSMM	muscle
46	chr11:59382400-59384000	Active TSS	NH-A	brain
47	chr11:59382400-59384000	Active TSS	NHLF	lung
48	chr11:59382400-59384000	Active TSS	Osteobl	bone
49	chr11:59382400-59384200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr11:59382400-59384200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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