Variant report

Variant	rs552016419
Chromosome Location	chr11:75139503-75139504
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	POLR2A	chr11:75139174-75139887	U87	brain:	n/a	n/a
2	POLR2A	chr11:75139366-75139747	U87	brain:	n/a	n/a
3	FOS	chr11:75139295-75139516	MCF10A-Er-Src	breast:	n/a	n/a
4	GTF2F1	chr11:75139491-75139648	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:75139426-75139664	SK-N-SH	brain:	n/a	n/a
6	E2F6	chr11:75139085-75139805	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr11:75139384-75139665	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:75139428-75139671	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:75139347-75139786	Hela-S3	cervix:	n/a	n/a
10	MAX	chr11:75139373-75139600	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr11:75139275-75139612	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:75139385-75139696	HepG2	liver:	n/a	n/a
13	SP1	chr11:75139257-75139539	GM12878	blood:	n/a	chr11:75139473-75139485 chr11:75139473-75139485 chr11:75139385-75139397
14	CREB1	chr11:75139197-75139812	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:75139474-75139691	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr11:75139275-75139692	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:75138997-75139891	HUVEC	blood vessel:	n/a	n/a
18	NFYB	chr11:75139157-75139619	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:75139174-75139803	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr11:75139200-75139856	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr11:75139362-75139783	Hela-S3	cervix:	n/a	n/a
22	E2F4	chr11:75139238-75139555	MCF10A-Er-Src	breast:	n/a	n/a
23	CHD2	chr11:75139398-75139588	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:75139410-75139770	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:75139176-75139719	MCF10A-Er-Src	breast:	n/a	n/a
26	NFYA	chr11:75139151-75139619	Hela-S3	cervix:	n/a	n/a
27	SP2	chr11:75139192-75139531	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:75139189-75139887	U87	brain:	n/a	n/a
29	POLR2A	chr11:75139345-75139763	Gliobla	brain:	n/a	n/a
30	POLR2A	chr11:75139293-75139778	PANC-1	pancreas:	n/a	n/a
31	JUND	chr11:75139361-75139561	HepG2	liver:	n/a	n/a
32	E2F6	chr11:75139295-75139758	H1-hESC	embryonic stem cell:	n/a	n/a
33	TBP	chr11:75139498-75139569	HepG2	liver:	n/a	n/a
34	MYC	chr11:75139315-75139519	MCF10A-Er-Src	breast:	n/a	n/a
35	MXI1	chr11:75138955-75139942	SK-N-SH	brain:	n/a	n/a
36	SP1	chr11:75139246-75139522	GM12878	blood:	n/a	chr11:75139473-75139485 chr11:75139473-75139485 chr11:75139385-75139397
37	NFYB	chr11:75139156-75139552	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:75139421-75139764	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:75139267-75139788	PANC-1	pancreas:	n/a	n/a
40	MXI1	chr11:75139447-75139518	Hela-S3	cervix:	n/a	n/a
41	MAX	chr11:75139254-75139920	SK-N-SH	brain:	n/a	chr11:75139784-75139794 chr11:75139800-75139810
42	RFX5	chr11:75139224-75139603	Hela-S3	cervix:	n/a	n/a
43	MAX	chr11:75139442-75139642	HepG2	liver:	n/a	n/a
44	MAX	chr11:75139154-75139822	MCF-7	breast:	n/a	chr11:75139784-75139794 chr11:75139800-75139810
45	MXI1	chr11:75139315-75139692	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:75139402-75139659	ProgFib	skin:	n/a	n/a
47	POLR2A	chr11:75139154-75139596	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:75139341-75139722	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:75139407-75139800	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:75139397-75139761	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75115551..75117959-chr11:75139316..75141039,2	K562	blood:
2	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
3	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:

Variant related genes	Relation type
KLHL35	TF binding region
ENSG00000206941	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
7	esv3354601	chr11:75138904-75143302	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75118200-75139600	Weak transcription	Small Intestine	intestine
2	chr11:75119400-75139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:75123400-75140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:75126400-75139600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:75126400-75140600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:75129400-75141200	Weak transcription	Aorta	Aorta
7	chr11:75134000-75141000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:75134200-75141400	Weak transcription	HSMMtube	muscle
9	chr11:75134600-75140800	Weak transcription	Gastric	stomach
10	chr11:75135200-75140400	Weak transcription	Spleen	Spleen
11	chr11:75136400-75140200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:75139000-75139600	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr11:75139000-75139600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:75139000-75139600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:75139000-75139600	Bivalent Enhancer	Fetal Stomach	stomach
16	chr11:75139000-75139600	Bivalent/Poised TSS	GM12878-XiMat	blood
17	chr11:75139000-75139800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
18	chr11:75139000-75139800	Active TSS	Brain Angular Gyrus	brain
19	chr11:75139000-75139800	Active TSS	Brain Substantia Nigra	brain
20	chr11:75139000-75139800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:75139000-75139800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr11:75139000-75140000	Active TSS	Right Atrium	heart
23	chr11:75139000-75140000	Active TSS	Right Ventricle	heart
24	chr11:75139000-75140000	Active TSS	Stomach Smooth Muscle	stomach
25	chr11:75139000-75140600	Enhancers	Stomach Mucosa	stomach
26	chr11:75139200-75139600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:75139200-75139600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr11:75139200-75139600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:75139200-75139600	Active TSS	Adipose Nuclei	Adipose
30	chr11:75139200-75139600	Active TSS	Fetal Lung	lung
31	chr11:75139200-75139600	Active TSS	HMEC	breast
32	chr11:75139200-75139800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:75139200-75139800	Active TSS	Brain Anterior Caudate	brain
34	chr11:75139200-75139800	Bivalent/Poised TSS	Fetal Kidney	kidney
35	chr11:75139200-75139800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:75139200-75140000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:75139200-75140000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:75139200-75140000	Enhancers	Colon Smooth Muscle	Colon
39	chr11:75139200-75140000	Bivalent Enhancer	Fetal Brain Male	brain
40	chr11:75139200-75140000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:75139200-75140000	Active TSS	Hela-S3	cervix
42	chr11:75139200-75140000	Active TSS	HepG2	liver
43	chr11:75139200-75140200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:75139200-75140200	Active TSS	Duodenum Mucosa	Duodenum
45	chr11:75139200-75140400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:75139200-75140600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:75139200-75140800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:75139200-75141600	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr11:75139400-75139600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:75139400-75139600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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