Variant report

Variant	rs535255108
Chromosome Location	chr11:16996590-16996591
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:16996246-16996606	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr11:16996276-16996634	K562	blood:	n/a	n/a
3	POLR2A	chr11:16996134-16996646	GM12891	blood:	n/a	n/a
4	HEY1	chr11:16996352-16996622	K562	blood:	n/a	n/a
5	POLR2A	chr11:16996408-16996618	A549	lung:	n/a	n/a
6	POLR2A	chr11:16996176-16996648	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:16996153-16996608	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr11:16996329-16996674	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:16996136-16996643	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:16996158-16996625	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:16996092-16996719	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:16996197-16996640	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:16996057-16996700	H1-hESC	embryonic stem cell:	n/a	n/a
14	POU2F2	chr11:16996145-16996649	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:16996201-16996650	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:16996194-16996628	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:16996166-16996630	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:16996367-16996610	GM12891	blood:	n/a	n/a
19	ZBTB33	chr11:16996187-16996739	K562	blood:	n/a	n/a
20	POLR2A	chr11:16996283-16996612	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:16996220-16996624	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:16996348-16996596	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-585P	TF binding region
ENSG00000244398	TF binding region
ENSG00000184669	Chromatin interaction
ENSG00000166689	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3436157	chr11:16994276-16998574	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
3	esv3527412	chr11:16995276-16997821	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
4	nsv975154	chr11:16995394-16997589	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv2653384	chr11:16995406-16997211	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	esv3326498	chr11:16995526-16997624	Enhancers Strong transcription Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv2185277	chr11:16996002-16996786	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv5847	chr11:16996002-16996859	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv3457286	chr11:16996057-16996682	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3527415	chr11:16996071-16996685	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv3527419	chr11:16996076-16996709	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3527417	chr11:16996092-16996630	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
13	esv3619	chr11:16996098-16996706	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
14	esv3457252	chr11:16996102-16996666	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
15	esv3457297	chr11:16996107-16996662	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
16	esv3527416	chr11:16996115-16996646	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
17	esv3527414	chr11:16996123-16996644	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
18	esv3457274	chr11:16996125-16996621	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
19	esv3449258	chr11:16996134-16996616	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
20	esv3457263	chr11:16996155-16996599	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
21	esv3527413	chr11:16996169-16996594	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
22	esv3457308	chr11:16996170-16996603	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
23	esv3527420	chr11:16996170-16996603	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
24	esv1324947	chr11:16996178-16996602	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16981800-17002800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:16982200-16999000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
4	chr11:16985200-16997600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:16985400-16997600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:16990000-16997400	Weak transcription	Lung	lung
7	chr11:16990000-16999000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:16990200-16998000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:16990200-16998000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:16990200-16999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:16990800-16997400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:16991400-16998000	Weak transcription	Gastric	stomach
13	chr11:16991400-16999200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:16991400-17002800	Weak transcription	Right Atrium	heart
15	chr11:16991600-16997400	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:16991800-17001000	Weak transcription	Fetal Kidney	kidney
17	chr11:16991800-17001000	Weak transcription	HepG2	liver
18	chr11:16992000-17001200	Weak transcription	Liver	Liver
19	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
20	chr11:16992400-16998000	Weak transcription	Fetal Stomach	stomach
21	chr11:16992400-16998400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:16992800-16999000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:16993800-16998400	Weak transcription	Fetal Intestine Large	intestine
24	chr11:16993800-16999000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:16994200-17000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:16994600-16999400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:16995000-16998000	Weak transcription	Stomach Mucosa	stomach
28	chr11:16995200-16998200	Weak transcription	Brain Substantia Nigra	brain
29	chr11:16995400-16997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:16995400-16997800	Weak transcription	Pancreas	Pancrea
31	chr11:16995600-16997600	Weak transcription	Brain Anterior Caudate	brain
32	chr11:16995800-16997400	Weak transcription	Fetal Intestine Small	intestine

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