Variant report

Variant	rs541418683
Chromosome Location	chr11:45201181-45201182
allele	A/G
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	SRF	chr11:45201022-45201288	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:45201060-45201210	NHEK	skin:	n/a	n/a
4	CTCF	chr11:45201080-45201230	HEK293	kidney:	n/a	n/a
5	CTCF	chr11:45201060-45201210	AG04449	skin:	n/a	n/a
6	CTCF	chr11:45201160-45201310	HRE	kidney:	n/a	n/a
7	CTCF	chr11:45200973-45202208	A549	lung:	n/a	n/a
8	MAX	chr11:45201156-45203056	A549	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
9	CTCF	chr11:45201080-45201230	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr11:45201100-45201250	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr11:45201040-45201190	AG10803	skin:	n/a	n/a
12	HCFC1	chr11:45200158-45203524	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:45201075-45203095	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr11:45201007-45201208	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr11:45201140-45201290	HMF	breast:	n/a	n/a
16	TFAP2C	chr11:45200721-45203126	Hela-S3	cervix:	n/a	chr11:45202162-45202177 chr11:45202607-45202622
17	SRF	chr11:45201035-45201471	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr11:45200943-45202272	SK-N-SH	brain:	n/a	n/a
19	FOS	chr11:45200744-45201206	MCF10A-Er-Src	breast:	n/a	chr11:45200761-45200773 chr11:45200827-45200836
20	CTCF	chr11:45201105-45201188	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:45201060-45201210	HepG2	liver:	n/a	n/a
22	MAZ	chr11:45200459-45203366	IMR90	lung:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
23	CTCF	chr11:45201060-45201210	WERI-Rb-1	eye:	n/a	n/a
24	SMARCC1	chr11:45201142-45202085	Hela-S3	cervix:	n/a	n/a
25	FOS	chr11:45200902-45201192	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr11:45201180-45201330	RPTEC	kidney:	n/a	n/a
27	FOS	chr11:45200742-45201189	MCF10A-Er-Src	breast:	n/a	chr11:45200761-45200773 chr11:45200827-45200836
28	USF2	chr11:45200757-45201257	Hela-S3	cervix:	n/a	n/a
29	SMC3	chr11:45200990-45202134	Hela-S3	cervix:	n/a	chr11:45201823-45201833
30	ZKSCAN1	chr11:45201148-45201298	Hela-S3	cervix:	n/a	n/a
31	RCOR1	chr11:45201136-45202868	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:45201061-45201246	K562	blood:	n/a	n/a
33	MAX	chr11:45201135-45202984	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
34	CTCF	chr11:45201120-45201270	HRE	kidney:	n/a	n/a
35	CTCF	chr11:45201080-45201230	SAEC	small airway:	n/a	n/a
36	CTCF	chr11:45201078-45201228	NHEK	skin:	n/a	n/a
37	CTCF	chr11:45201140-45201290	Caco-2	colon:	n/a	n/a
38	MYC	chr11:45201102-45201211	MCF10A-Er-Src	breast:	n/a	n/a
39	SRF	chr11:45201108-45201262	K562	blood:	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	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000019485	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45183800-45201200	Weak transcription	Gastric	stomach
2	chr11:45186400-45201200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:45186600-45201400	Weak transcription	Fetal Brain Female	brain
4	chr11:45192400-45201200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:45194800-45201200	Weak transcription	Stomach Mucosa	stomach
6	chr11:45195400-45201400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:45196200-45201200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:45198200-45201200	Enhancers	Fetal Heart	heart
9	chr11:45198400-45201200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:45198800-45201200	Weak transcription	Liver	Liver
11	chr11:45198800-45201200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:45199000-45201200	Weak transcription	Psoas Muscle	Psoas
13	chr11:45199000-45201400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:45199000-45201400	Weak transcription	Brain Germinal Matrix	brain
15	chr11:45199200-45201200	Weak transcription	Ovary	ovary
16	chr11:45199200-45201400	Weak transcription	Aorta	Aorta
17	chr11:45199600-45201200	Weak transcription	Brain Angular Gyrus	brain
18	chr11:45199800-45201200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:45200200-45201200	Weak transcription	Spleen	Spleen
20	chr11:45200200-45201400	Enhancers	Right Ventricle	heart
21	chr11:45200400-45201200	Enhancers	NH-A	brain
22	chr11:45200400-45201200	Enhancers	Osteobl	bone
23	chr11:45200400-45201400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr11:45200400-45201600	Enhancers	Left Ventricle	heart
25	chr11:45200400-45201600	Enhancers	Right Atrium	heart
26	chr11:45200400-45202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:45200600-45201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:45200600-45201200	Enhancers	Stomach Smooth Muscle	stomach
29	chr11:45200600-45201400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:45200600-45201400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr11:45200600-45201400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr11:45200600-45201400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:45200600-45201400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr11:45200600-45201400	Enhancers	Fetal Muscle Leg	muscle
35	chr11:45200600-45201400	Enhancers	HSMM	muscle
36	chr11:45200600-45201600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:45200600-45201800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:45200800-45201200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:45200800-45201200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:45200800-45201200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:45200800-45201200	Enhancers	A549	lung
42	chr11:45200800-45201400	Enhancers	Colon Smooth Muscle	Colon
43	chr11:45200800-45201400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:45200800-45201400	Enhancers	Fetal Intestine Large	intestine
45	chr11:45200800-45201600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr11:45200800-45201600	Enhancers	Fetal Stomach	stomach
47	chr11:45200800-45201600	Enhancers	Pancreas	Pancrea
48	chr11:45200800-45201600	Enhancers	Small Intestine	intestine
49	chr11:45200800-45201800	Enhancers	HMEC	breast
50	chr11:45201000-45201200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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