Variant report

Variant	rs530645981
Chromosome Location	chr11:66791066-66791067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66790945-66791408	H1-neurons	neurons:	n/a	n/a
2	MYC	chr11:66791035-66791330	MCF-7	breast:	n/a	n/a
3	MAX	chr11:66789735-66791655	A549	lung:	n/a	chr11:66790997-66791007
4	POLR2A	chr11:66791008-66791263	A549	lung:	n/a	n/a
5	MAX	chr11:66789704-66791377	Hela-S3	cervix:	n/a	chr11:66790997-66791007
6	ZBTB7A	chr11:66789748-66791271	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr11:66790851-66791388	HepG2	liver:	n/a	chr11:66790997-66791007
8	POLR2A	chr11:66791020-66791151	A549	lung:	n/a	n/a
9	BACH1	chr11:66791048-66791237	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr11:66790945-66791385	MCF-7	breast:	n/a	chr11:66790997-66791007
11	HA-E2F1	chr11:66790524-66791285	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr11:66790752-66791417	H1-hESC	embryonic stem cell:	n/a	chr11:66791203-66791212
13	POLR2A	chr11:66790464-66791458	MCF-7	breast:	n/a	n/a
14	SIN3AK20	chr11:66789540-66791922	MCF-7	breast:	n/a	n/a
15	MAX	chr11:66790915-66791533	MCF-7	breast:	n/a	chr11:66790997-66791007
16	MAX	chr11:66790326-66791517	A549	lung:	n/a	chr11:66790997-66791007
17	SIN3A	chr11:66791044-66791078	H1-hESC	embryonic stem cell:	n/a	n/a
18	SUZ12	chr11:66790239-66792182	NT2-D1	testis:	n/a	n/a
19	POLR2A	chr11:66789717-66791255	Hela-S3	cervix:	n/a	n/a
20	E2F6	chr11:66790885-66791405	A549	lung:	n/a	n/a
21	MAX	chr11:66790445-66791507	H1-hESC	embryonic stem cell:	n/a	chr11:66790997-66791007
22	MAX	chr11:66789550-66791507	MCF-7	breast:	n/a	chr11:66790997-66791007
23	POLR2A	chr11:66790432-66791306	A549	lung:	n/a	n/a
24	E2F1	chr11:66790559-66791341	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr11:66790915-66791567	IMR90	lung:	n/a	n/a
26	E2F6	chr11:66790946-66791483	A549	lung:	n/a	n/a
27	MAX	chr11:66790916-66791531	H1-hESC	embryonic stem cell:	n/a	chr11:66790997-66791007

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66791038-66791088	AG04450	lung:	fetal
2	chr11:66791038-66791088	CMK	blood:	n/a
3	chr11:66791038-66791088	SKMC	muscle:	n/a
4	chr11:66791038-66791088	NB4	blood:	n/a
5	chr11:66791038-66791088	HMEC	breast:	n/a
6	chr11:66791038-66791088	MCF-7	breast:	n/a
7	chr11:66791038-66791088	AG10803	skin:	n/a
8	chr11:66791038-66791088	HRCEpiC	kidney:	n/a
9	chr11:66791038-66791088	SAEC	small airway:	n/a
10	chr11:66791038-66791088	MCF10A-Er-Src	breast:	n/a
11	chr11:66791038-66791088	IMR90	lung:	fetal
12	chr11:66791038-66791088	Hela-S3	cervix:	n/a
13	chr11:66791038-66791088	GM12891	blood:	n/a
14	chr11:66791038-66791088	HUVEC	blood vessel:	n/a
15	chr11:66791038-66791088	HEEpiC	esophagus:	n/a
16	chr11:66791038-66791088	HIPEpiC	eye:	n/a
17	chr11:66791038-66791088	HRE	kidney:	n/a
18	chr11:66791038-66791088	ProgFib	skin:	n/a
19	chr11:66791038-66791088	T-47D	breast:	n/a
20	chr11:66791038-66791088	ECC-1	luminal epithelium:	n/a
21	chr11:66791038-66791088	LNCaP	prostate:	n/a
22	chr11:66791038-66791088	BE2_C	brain:	n/a
23	chr11:66791038-66791088	Caco-2	colon:	n/a
24	chr11:66791038-66791088	A549	lung:	n/a
25	chr11:66791038-66791088	SK-N-SH	brain:	n/a
26	chr11:66791038-66791088	ovcar-3	ovarian:	n/a
27	chr11:66791038-66791088	HCM	heart:	n/a
28	chr11:66791038-66791088	GM19239	blood:	n/a
29	chr11:66791038-66791088	RPTEC	kidney:	n/a
30	chr11:66791038-66791088	GM06990	blood:	n/a
31	chr11:66791038-66791088	AG09319	gingival:	n/a
32	chr11:66791038-66791088	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:66791038-66791088	HL-60	blood:	n/a
34	chr11:66791038-66791088	H1-hESC	embryonic stem cell:	embryo
35	chr11:66791038-66791088	HEK293	kidney:	embryo
36	chr11:66791038-66791088	GM12878	blood:	n/a
37	chr11:66791038-66791088	HepG2	liver:	n/a
38	chr11:66791038-66791088	Jurkat	blood:	n/a
39	chr11:66791038-66791088	HAEpiC	amniotic membrane:	n/a
40	chr11:66791038-66791088	HNPCEpiC	eye:	n/a
41	chr11:66791038-66791088	SK-N-MC	brain:	n/a
42	chr11:66791038-66791088	NT2-D1	testis:	n/a
43	chr11:66791038-66791088	NHDF-neo	bronchial:	n/a
44	chr11:66791038-66791088	U87	brain:	n/a
45	chr11:66791038-66791088	PANC-1	pancreas:	n/a
46	chr11:66791038-66791088	PFSK-1	brain:	n/a
47	chr11:66791038-66791088	AG09309	skin:	n/a
48	chr11:66791038-66791088	NHBE	bronchial:	n/a
49	chr11:66791038-66791088	HRPEpiC	eye:	n/a
50	chr11:66791038-66791088	K562	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
2	chr11:66789062..66792605-chr11:66793092..66798254,6	K562	blood:
3	chr11:66762967..66768319-chr11:66788576..66792799,9	MCF-7	breast:
4	chr11:66622967..66625397-chr11:66790084..66792768,5	MCF-7	breast:
5	chr11:66762811..66772502-chr11:66787021..66797000,34	MCF-7	breast:
6	chr11:66510482..66513147-chr11:66790966..66792774,2	MCF-7	breast:
7	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
8	chr11:66608006..66612050-chr11:66789663..66791972,5	MCF-7	breast:
9	chr11:66622645..66625708-chr11:66789822..66792440,5	MCF-7	breast:
10	chr11:66790564..66792990-chr17:56707751..56709327,2	MCF-7	breast:
11	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
12	chr11:66790383..66792489-chr11:67119405..67122102,2	MCF-7	breast:
13	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:
14	chr11:66789739..66792605-chr11:66795396..66798254,2	K562	blood:

No data

Variant related genes	Relation type
SYT12	TF binding region
SYT12	CpG island
ENSG00000173715	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000252709	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173653	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
5	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv3405747	chr11:66789601-66792149	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3378723	chr11:66790076-66792024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66789200-66791200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr11:66789600-66791600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:66789600-66792800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:66789800-66791200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:66789800-66791400	Bivalent Enhancer	Fetal Heart	heart
6	chr11:66790000-66791200	Active TSS	Right Ventricle	heart
7	chr11:66790000-66791400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:66790000-66791400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:66790000-66791400	Active TSS	Aorta	Aorta
10	chr11:66790000-66793200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr11:66790200-66791200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:66790200-66791200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:66790200-66791200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:66790200-66791400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr11:66790200-66791400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:66790200-66791400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:66790200-66791400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr11:66790200-66791400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr11:66790200-66791600	Flanking Active TSS	HMEC	breast
20	chr11:66790200-66792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:66790400-66791200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr11:66790400-66791200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:66790400-66791200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:66790400-66791200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:66790400-66791200	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr11:66790400-66791200	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:66790400-66791200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
28	chr11:66790400-66791200	Active TSS	Hela-S3	cervix
29	chr11:66790400-66791400	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr11:66790400-66791400	Flanking Active TSS	Pancreas	Pancrea
31	chr11:66790400-66791400	Active TSS	Psoas Muscle	Psoas
32	chr11:66790400-66791400	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr11:66790400-66791600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:66790400-66791600	Bivalent Enhancer	Fetal Brain Male	brain
35	chr11:66790400-66792000	Active TSS	HSMMtube	muscle
36	chr11:66790400-66792200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:66790400-66792600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr11:66790600-66791200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:66790600-66791200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:66790600-66791200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:66790600-66791200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:66790600-66791200	Active TSS	Liver	Liver
43	chr11:66790600-66791200	Bivalent Enhancer	Fetal Lung	lung
44	chr11:66790600-66791200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr11:66790600-66791200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
46	chr11:66790600-66791200	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr11:66790600-66791200	Active TSS	A549	lung
48	chr11:66790600-66791200	Active TSS	HSMM	muscle
49	chr11:66790600-66791200	Bivalent/Poised TSS	NHEK	skin
50	chr11:66790600-66791200	Active TSS	Osteobl	bone

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