Variant report

Variant	rs183705363
Chromosome Location	chr11:85907459-85907460
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	RFX5	chr11:85907219-85907715	Hela-S3	cervix:	n/a	n/a
2	SMC3	chr11:85907136-85907742	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr11:85907095-85907531	Hela-S3	cervix:	n/a	chr11:85907334-85907348 chr11:85907334-85907348 chr11:85907282-85907291 chr11:85907281-85907290
4	STAT3	chr11:85907131-85907787	Hela-S3	cervix:	n/a	chr11:85907281-85907290
5	ATF1	chr11:85907288-85908307	K562	blood:	n/a	n/a
6	CCNT2	chr11:85907385-85907615	K562	blood:	n/a	n/a
7	IRF1	chr11:85907037-85908980	K562	blood:	n/a	n/a
8	MYC	chr11:85907338-85907728	K562	blood:	n/a	n/a
9	TCF7L2	chr11:85906824-85908185	Hela-S3	cervix:	n/a	chr11:85907334-85907348 chr11:85907334-85907348 chr11:85907282-85907291 chr11:85907281-85907290
10	MXI1	chr11:85907161-85907739	Hela-S3	cervix:	n/a	n/a
11	CUX1	chr11:85907057-85907709	K562	blood:	n/a	n/a
12	MAFF	chr11:85907404-85907773	K562	blood:	n/a	n/a
13	GATA1	chr11:85907394-85909524	PBDE	blood:	n/a	chr11:85908503-85908513 chr11:85907557-85907573
14	MYC	chr11:85907245-85907731	Hela-S3	cervix:	n/a	n/a
15	TBL1XR1	chr11:85907184-85908948	K562	blood:	n/a	n/a
16	RCOR1	chr11:85907214-85907713	Hela-S3	cervix:	n/a	n/a
17	TBP	chr11:85907144-85908142	Hela-S3	cervix:	n/a	n/a
18	EP300	chr11:85907179-85908919	K562	blood:	n/a	chr11:85907523-85907537 chr11:85908441-85908450 chr11:85907260-85907270 chr11:85908311-85908318 chr11:85907282-85907291
19	GTF2F1	chr11:85907331-85907691	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr11:85906954-85908288	Hela-S3	cervix:	n/a	chr11:85907033-85907045 chr11:85908094-85908107
21	KAP1	chr11:85907302-85907884	U2OS	brain:	n/a	n/a
22	RAD21	chr11:85907177-85907716	Hela-S3	cervix:	n/a	n/a
23	MAX	chr11:85907434-85907737	K562	blood:	n/a	n/a
24	MAX	chr11:85907214-85907728	Hela-S3	cervix:	n/a	n/a
25	GATA3	chr11:85906962-85907645	SK-N-SH	brain:	n/a	chr11:85907557-85907573
26	ARID3A	chr11:85907402-85908387	K562	blood:	n/a	n/a
27	POLR2A	chr11:85907141-85907869	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:85907148-85907845	Hela-S3	cervix:	n/a	n/a
29	MYC	chr11:85907301-85907631	K562	blood:	n/a	n/a
30	POLR2A	chr11:85907210-85907510	Hela-S3	cervix:	n/a	n/a
31	HEY1	chr11:85907309-85907807	K562	blood:	n/a	n/a
32	MAX	chr11:85907233-85907773	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr11:85907423-85907648	K562	blood:	n/a	n/a
34	GATA3	chr11:85907109-85907712	SK-N-SH	brain:	n/a	chr11:85907557-85907573
35	JUND	chr11:85906994-85907713	Hela-S3	cervix:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
36	EP300	chr11:85907037-85908188	Hela-S3	cervix:	n/a	chr11:85907523-85907537 chr11:85907260-85907270 chr11:85907282-85907291
37	ZMIZ1	chr11:85907457-85907497	K562	blood:	n/a	n/a
38	TCF7L2	chr11:85907163-85907499	MCF-7	breast:	n/a	chr11:85907334-85907348 chr11:85907334-85907348 chr11:85907282-85907291 chr11:85907281-85907290
39	USF2	chr11:85907299-85907684	Hela-S3	cervix:	n/a	chr11:85907486-85907497
40	JUND	chr11:85907126-85908878	K562	blood:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
41	RCOR1	chr11:85907188-85908858	K562	blood:	n/a	n/a
42	POLR2A	chr11:85907177-85907750	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85520588..85523121-chr11:85904931..85907542,2	MCF-7	breast:
2	chr11:85778187..85780114-chr11:85906688..85908300,2	K562	blood:

Variant related genes	Relation type
ENSG00000254699	TF binding region
ENSG00000137501	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv975958	chr11:85906731-85907947	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85898400-85913400	Weak transcription	Left Ventricle	heart
2	chr11:85902000-85908800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:85904400-85913200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:85904800-85908000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:85905000-85908000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:85905000-85912400	Weak transcription	HSMM	muscle
7	chr11:85905000-85913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:85905000-85913200	Weak transcription	Placenta	Placenta
9	chr11:85905000-85913200	Weak transcription	Fetal Stomach	stomach
10	chr11:85905200-85908200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:85905200-85908400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:85905200-85910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:85905200-85913200	Weak transcription	Stomach Mucosa	stomach
14	chr11:85905800-85907600	Weak transcription	Brain Anterior Caudate	brain
15	chr11:85905800-85908000	Weak transcription	Adipose Nuclei	Adipose
16	chr11:85905800-85911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:85905800-85913200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:85906600-85908800	Enhancers	Brain Substantia Nigra	brain
19	chr11:85906600-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:85906800-85908200	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:85906800-85908200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:85907000-85908000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:85907000-85908200	Flanking Active TSS	Hela-S3	cervix
24	chr11:85907000-85908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:85907000-85908800	Enhancers	NHEK	skin
26	chr11:85907000-85909000	Flanking Active TSS	K562	blood
27	chr11:85907000-85909600	Enhancers	Brain Hippocampus Middle	brain
28	chr11:85907200-85907600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:85907200-85908000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr11:85907200-85908000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:85907200-85908200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:85907200-85908400	Enhancers	Osteobl	bone
33	chr11:85907200-85908600	Enhancers	Brain Angular Gyrus	brain
34	chr11:85907200-85909400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:85907200-85909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:85907200-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:85907400-85907600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:85907400-85907600	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:85907400-85907600	Enhancers	A549	lung
40	chr11:85907400-85907800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:85907400-85907800	Enhancers	Fetal Kidney	kidney
42	chr11:85907400-85908400	Enhancers	Ovary	ovary
43	chr11:85907400-85908600	Enhancers	Small Intestine	intestine
44	chr11:85907400-85909000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:85907400-85910800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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