Variant report

Variant	rs10840282
Chromosome Location	chr11:9685570-9685571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9685256-9685897	HCT-116	colon:	n/a	n/a
2	USF1	chr11:9685492-9685807	A549	lung:	n/a	chr11:9685619-9685630
3	MXI1	chr11:9685348-9685602	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:9685426-9685900	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:9685027-9686180	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr11:9685420-9685570	HCFaa	heart:	n/a	chr11:9685513-9685522
7	CTCF	chr11:9685500-9685650	WI-38	lung:	n/a	chr11:9685513-9685522
8	CTCF	chr11:9685420-9685570	GM12873	blood:	n/a	chr11:9685513-9685522
9	POLR2A	chr11:9685293-9685842	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:9684750-9686658	GM12892	blood:	n/a	n/a
11	E2F6	chr11:9685437-9685779	K562	blood:	n/a	chr11:9685574-9685584 chr11:9685558-9685573
12	CHD2	chr11:9685369-9685812	GM12878	blood:	n/a	n/a
13	TBP	chr11:9685048-9685588	GM12878	blood:	n/a	n/a
14	STAT5A	chr11:9684900-9685853	GM12878	blood:	n/a	chr11:9685189-9685197
15	TBL1XR1	chr11:9685254-9685583	GM12878	blood:	n/a	n/a
16	CTCF	chr11:9685420-9685570	HRE	kidney:	n/a	chr11:9685513-9685522
17	MYC	chr11:9685333-9686294	NB4	blood:	n/a	n/a
18	MAZ	chr11:9685353-9686116	GM12878	blood:	n/a	n/a
19	CTCF	chr11:9685330-9685673	IMR90	lung:	n/a	chr11:9685513-9685522
20	USF1	chr11:9685406-9685783	A549	lung:	n/a	chr11:9685619-9685630
21	POLR2A	chr11:9684756-9686634	Raji	blood:	n/a	n/a
22	CTCF	chr11:9685420-9685570	GM12864	blood:	n/a	chr11:9685513-9685522
23	USF1	chr11:9685464-9685771	GM12878	blood:	n/a	chr11:9685619-9685630
24	MAZ	chr11:9685436-9685804	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:9685310-9685935	A549	lung:	n/a	n/a
26	POLR2A	chr11:9685288-9685882	GM12878	blood:	n/a	n/a
27	FOXA2	chr11:9685124-9686234	A549	lung:	n/a	n/a
28	POLR2A	chr11:9684947-9685868	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:9685285-9685893	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr11:9685420-9685570	MCF-7	breast:	n/a	chr11:9685513-9685522
31	SIN3AK20	chr11:9685291-9685593	A549	lung:	n/a	n/a
32	USF1	chr11:9685427-9685825	HepG2	liver:	n/a	chr11:9685619-9685630
33	POLR2A	chr11:9685310-9685822	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:9684898-9686592	GM12878	blood:	n/a	n/a
35	TAF1	chr11:9685358-9685865	PFSK-1	brain:	n/a	n/a
36	RAD21	chr11:9685340-9685674	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr11:9685340-9685570	HAc	cerebellar:	n/a	chr11:9685513-9685522
38	SIN3AK20	chr11:9685238-9685589	PANC-1	pancreas:	n/a	n/a
39	RELA	chr11:9684994-9686593	GM19099	blood:	n/a	n/a
40	RELA	chr11:9685010-9686266	GM10847	blood:	n/a	n/a
41	CTCF	chr11:9685468-9685577	Spleen_OC	spleen:	n/a	chr11:9685513-9685522
42	MXI1	chr11:9685101-9686601	IMR90	lung:	n/a	n/a
43	TCF12	chr11:9684968-9686699	A549	lung:	n/a	n/a
44	HDAC2	chr11:9685106-9685681	H1-hESC	embryonic stem cell:	n/a	n/a
45	RFX5	chr11:9685329-9685682	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:9685073-9686098	PFSK-1	brain:	n/a	n/a
47	HA-E2F1	chr11:9685357-9686127	Hela-S3	cervix:	n/a	chr11:9685574-9685584 chr11:9685558-9685573
48	POLR2A	chr11:9685204-9685954	PFSK-1	brain:	n/a	n/a
49	RUNX3	chr11:9684865-9686389	GM12878	blood:	n/a	n/a
50	MXI1	chr11:9685355-9685628	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9685521-9685571	AoSMC	blood vessel:	n/a
2	chr11:9685521-9685571	HAEpiC	amniotic membrane:	n/a
3	chr11:9685521-9685571	AG09309	skin:	n/a
4	chr11:9685562-9685612	Hela-S3	cervix:	n/a
5	chr11:9685562-9685612	Hepatocyte	liver:	n/a
6	chr11:9685562-9685612	PrEC	prostate:	n/a
7	chr11:9685562-9685612	RPTEC	kidney:	n/a
8	chr11:9685562-9685612	SKMC	muscle:	n/a
9	chr11:9685562-9685612	GM12878	blood:	n/a
10	chr11:9685521-9685571	NB4	blood:	n/a
11	chr11:9685521-9685571	GM12878	blood:	n/a
12	chr11:9685562-9685612	HAEpiC	amniotic membrane:	n/a
13	chr11:9685562-9685612	GM12892	blood:	n/a
14	chr11:9685521-9685571	Hela-S3	cervix:	n/a
15	chr11:9685562-9685612	SAEC	small airway:	n/a
16	chr11:9685521-9685571	AG04450	lung:	fetal
17	chr11:9685521-9685571	ProgFib	skin:	n/a
18	chr11:9685521-9685571	AG10803	skin:	n/a
19	chr11:9685562-9685612	HIPEpiC	eye:	n/a
20	chr11:9685562-9685612	GM19239	blood:	n/a
21	chr11:9685521-9685571	GM12892	blood:	n/a
22	chr11:9685562-9685612	MCF10A-Er-Src	breast:	n/a
23	chr11:9685562-9685612	AG10803	skin:	n/a
24	chr11:9685521-9685571	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:9685562-9685612	PFSK-1	brain:	n/a
26	chr11:9685562-9685612	NH-A	brain:	n/a
27	chr11:9685521-9685571	RPTEC	kidney:	n/a
28	chr11:9685562-9685612	AoSMC	blood vessel:	n/a
29	chr11:9685521-9685571	NHBE	bronchial:	n/a
30	chr11:9685562-9685612	NHBE	bronchial:	n/a
31	chr11:9685521-9685571	IMR90	lung:	fetal
32	chr11:9685562-9685612	NB4	blood:	n/a
33	chr11:9685521-9685571	HEK293	kidney:	embryo
34	chr11:9685562-9685612	HEEpiC	esophagus:	n/a
35	chr11:9685562-9685612	A549	lung:	n/a
36	chr11:9685562-9685612	HepG2	liver:	n/a
37	chr11:9685562-9685612	U87	brain:	n/a
38	chr11:9685521-9685571	HCF	heart:	n/a
39	chr11:9685562-9685612	GM06990	blood:	n/a
40	chr11:9685521-9685571	HL-60	blood:	n/a
41	chr11:9685562-9685612	ovcar-3	ovarian:	n/a
42	chr11:9685521-9685571	SAEC	small airway:	n/a
43	chr11:9685521-9685571	SK-N-MC	brain:	n/a
44	chr11:9685521-9685571	CMK	blood:	n/a
45	chr11:9685521-9685571	ECC-1	luminal epithelium:	n/a
46	chr11:9685521-9685571	HCPEpiC	choroid plexus:	n/a
47	chr11:9685521-9685571	BJ	skin:	n/a
48	chr11:9685521-9685571	SKMC	muscle:	n/a
49	chr11:9685562-9685612	HRCEpiC	kidney:	n/a
50	chr11:9685521-9685571	H1-hESC	embryonic stem cell:	embryo

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9681496..9684327-chr11:9685314..9687599,2	K562	blood:
2	chr11:9685360..9686226-chr19:47291495..47292138,2	Hela-S3	cervix:
3	chr11:9684503..9686549-chr11:9746683..9749478,2	MCF-7	breast:
4	chr11:9683805..9685652-chr11:10315027..10316546,2	MCF-7	breast:
5	chr11:9684819..9685711-chr3:73160121..73161109,2	Hela-S3	cervix:
6	chr11:9684969..9685654-chr17:16341865..16342578,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SWAP70	TF binding region
SWAP70	CpG island
ENSG00000239470	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000133789	Chromatin interaction
ENSG00000105281	Chromatin interaction
ENSG00000133812	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7932792	0.88[EUR][1000 genomes]

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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9684400-9686800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:9684800-9685600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:9684800-9685600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:9684800-9685600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:9684800-9686200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
6	chr11:9684800-9686600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:9684800-9686600	Active TSS	Colon Smooth Muscle	Colon
8	chr11:9684800-9686800	Active TSS	Aorta	Aorta
9	chr11:9684800-9687000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:9684800-9687000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:9684800-9687000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:9684800-9687000	Active TSS	Brain Cingulate Gyrus	brain
13	chr11:9684800-9687200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:9684800-9687200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:9684800-9687200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:9684800-9687200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:9684800-9687200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:9684800-9687200	Active TSS	Brain Hippocampus Middle	brain
19	chr11:9684800-9687200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:9684800-9687200	Active TSS	Right Atrium	heart
21	chr11:9684800-9687400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:9684800-9687400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:9684800-9687400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:9684800-9687400	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:9684800-9687800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:9685000-9685600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:9685000-9685600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:9685000-9685600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:9685000-9685600	Flanking Active TSS	Hela-S3	cervix
30	chr11:9685000-9685800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:9685000-9686000	Active TSS	Fetal Muscle Trunk	muscle
32	chr11:9685000-9686200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:9685000-9686400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:9685000-9686600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:9685000-9686600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:9685000-9686600	Active TSS	Esophagus	oesophagus
37	chr11:9685000-9686600	Active TSS	Gastric	stomach
38	chr11:9685000-9686600	Active TSS	Left Ventricle	heart
39	chr11:9685000-9686600	Active TSS	Pancreas	Pancrea
40	chr11:9685000-9686600	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr11:9685000-9686600	Active TSS	Small Intestine	intestine
42	chr11:9685000-9686800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:9685000-9686800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:9685000-9686800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:9685000-9686800	Active TSS	Brain Angular Gyrus	brain
46	chr11:9685000-9686800	Active TSS	Ovary	ovary
47	chr11:9685000-9687000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:9685000-9687000	Active TSS	Fetal Intestine Small	intestine
49	chr11:9685000-9687000	Active TSS	Fetal Kidney	kidney
50	chr11:9685000-9687000	Active TSS	Right Ventricle	heart

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