Variant report

Variant	rs145595471
Chromosome Location	chr11:45201270-45201271
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	POLR2A	chr11:45201038-45203556	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr11:45201260-45203091	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
3	SRF	chr11:45201022-45201288	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr11:45201247-45203155	ECC-1	luminal epithelium:	n/a	chr11:45202789-45202798
5	CTCF	chr11:45201160-45201310	HRE	kidney:	n/a	n/a
6	CTCF	chr11:45200973-45202208	A549	lung:	n/a	n/a
7	MAX	chr11:45201156-45203056	A549	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
8	HCFC1	chr11:45200158-45203524	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:45201075-45203095	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:45201140-45201290	HMF	breast:	n/a	n/a
11	TFAP2C	chr11:45200721-45203126	Hela-S3	cervix:	n/a	chr11:45202162-45202177 chr11:45202607-45202622
12	SRF	chr11:45201035-45201471	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr11:45200943-45202272	SK-N-SH	brain:	n/a	n/a
14	MAZ	chr11:45200459-45203366	IMR90	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
15	SMARCC1	chr11:45201142-45202085	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:45201180-45201330	RPTEC	kidney:	n/a	n/a
17	SMC3	chr11:45200990-45202134	Hela-S3	cervix:	n/a	chr11:45201823-45201833
18	ZKSCAN1	chr11:45201148-45201298	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr11:45201136-45202868	Hela-S3	cervix:	n/a	n/a
20	MAX	chr11:45201135-45202984	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
21	TCF12	chr11:45201265-45202877	ECC-1	luminal epithelium:	n/a	chr11:45201861-45201868 chr11:45202040-45202048 chr11:45201471-45201481
22	TCF7L2	chr11:45201243-45201994	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr11:45201120-45201270	HRE	kidney:	n/a	n/a
24	CTCF	chr11:45201140-45201290	Caco-2	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45200855..45203126-chr11:45215617..45218451,2	MCF-7	breast:
2	chr11:45200307..45202663-chr11:45284381..45286142,2	MCF-7	breast:
3	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
4	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
5	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
6	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
7	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
8	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
9	chr11:45194753..45196374-chr11:45201257..45203053,2	K562	blood:
10	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
11	chr11:45198038..45200722-chr11:45201190..45202692,2	MCF-7	breast:
12	chr1:45186974..45187599-chr11:45201244..45201899,2	Hela-S3	cervix:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000019485	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	esv3406728	chr11:45201001-45203549	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45186600-45201400	Weak transcription	Fetal Brain Female	brain
2	chr11:45195400-45201400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:45199000-45201400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:45199000-45201400	Weak transcription	Brain Germinal Matrix	brain
5	chr11:45199200-45201400	Weak transcription	Aorta	Aorta
6	chr11:45200200-45201400	Enhancers	Right Ventricle	heart
7	chr11:45200400-45201400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr11:45200400-45201600	Enhancers	Left Ventricle	heart
9	chr11:45200400-45201600	Enhancers	Right Atrium	heart
10	chr11:45200400-45202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:45200600-45201400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:45200600-45201400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr11:45200600-45201400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
14	chr11:45200600-45201400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr11:45200600-45201400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:45200600-45201400	Enhancers	Fetal Muscle Leg	muscle
17	chr11:45200600-45201400	Enhancers	HSMM	muscle
18	chr11:45200600-45201600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:45200600-45201800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:45200800-45201400	Enhancers	Colon Smooth Muscle	Colon
21	chr11:45200800-45201400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:45200800-45201400	Enhancers	Fetal Intestine Large	intestine
23	chr11:45200800-45201600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr11:45200800-45201600	Enhancers	Fetal Stomach	stomach
25	chr11:45200800-45201600	Enhancers	Pancreas	Pancrea
26	chr11:45200800-45201600	Enhancers	Small Intestine	intestine
27	chr11:45200800-45201800	Enhancers	HMEC	breast
28	chr11:45201000-45201400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:45201000-45201400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:45201000-45201400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
31	chr11:45201000-45201400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:45201000-45201400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:45201000-45201400	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:45201000-45201400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:45201000-45201400	Enhancers	Fetal Intestine Small	intestine
36	chr11:45201000-45201400	Enhancers	Fetal Lung	lung
37	chr11:45201000-45201400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:45201000-45201600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:45201000-45201600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:45201000-45201600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:45201000-45201600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:45201000-45201600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr11:45201000-45201600	Enhancers	Esophagus	oesophagus
44	chr11:45201000-45201600	Enhancers	Lung	lung
45	chr11:45201000-45201600	Bivalent Enhancer	GM12878-XiMat	blood
46	chr11:45201000-45201600	Enhancers	HSMMtube	muscle
47	chr11:45201000-45201600	Enhancers	HUVEC	blood vessel
48	chr11:45201000-45201800	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:45201000-45201800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:45201000-45201800	Flanking Active TSS	Hela-S3	cervix

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