Variant report

Variant	rs113214539
Chromosome Location	chr10:112836155-112836156
allele	C/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	CTCF	chr10:112835834-112836250	A549	lung:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
2	PAX5	chr10:112835896-112836236	GM12878	blood:	n/a	chr10:112836026-112836035
3	ZNF143	chr10:112835869-112836236	GM12878	blood:	n/a	n/a
4	CTCF	chr10:112835780-112836448	H1-hESC	embryonic stem cell:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
5	CTCF	chr10:112835901-112836170	GM10266	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
6	CTCF	chr10:112835828-112836262	GM12878	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
7	REST	chr10:112835739-112837184	H1-neurons	neurons:	n/a	chr10:112836820-112836830 chr10:112837090-112837103 chr10:112836237-112836246
8	RUNX3	chr10:112835800-112836245	GM12878	blood:	n/a	n/a
9	MAX	chr10:112835887-112836957	H1-hESC	embryonic stem cell:	n/a	chr10:112836707-112836716
10	MAZ	chr10:112835938-112836165	HepG2	liver:	n/a	n/a
11	REST	chr10:112835976-112836381	GM12878	blood:	n/a	chr10:112836237-112836246
12	RAD21	chr10:112835872-112836201	GM12878	blood:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
13	CTCF	chr10:112835883-112836248	GM12892	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
14	CTCF	chr10:112835820-112836196	K562	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
15	YY1	chr10:112835892-112836274	ECC-1	luminal epithelium:	n/a	n/a
16	RAD21	chr10:112835878-112836166	K562	blood:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
17	ELF1	chr10:112835583-112836490	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr10:112835969-112836347	H1-hESC	embryonic stem cell:	n/a	n/a
19	SMC3	chr10:112835877-112836227	GM12878	blood:	n/a	chr10:112836044-112836058
20	CTCF	chr10:112835889-112836181	SK-N-SH_RA	brain:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
21	E2F6	chr10:112835913-112837335	H1-hESC	embryonic stem cell:	n/a	chr10:112836146-112836153 chr10:112836146-112836153 chr10:112837296-112837305 chr10:112837053-112837063 chr10:112837056-112837066 chr10:112837052-112837061 chr10:112836116-112836125 chr10:112836146-112836153
22	RAD21	chr10:112835596-112837208	H1-hESC	embryonic stem cell:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836521-112836535 chr10:112836036-112836049 chr10:112836520-112836539
23	SIN3A	chr10:112835862-112837044	H1-hESC	embryonic stem cell:	n/a	chr10:112836164-112836175 chr10:112836796-112836805
24	RAD21	chr10:112835799-112837044	H1-hESC	embryonic stem cell:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836521-112836535 chr10:112836036-112836049 chr10:112836520-112836539
25	CTCF	chr10:112835667-112836460	HCT-116	colon:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
26	CTCF	chr10:112835906-112836222	NHEK	skin:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
27	RAD21	chr10:112835814-112836330	ECC-1	luminal epithelium:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
28	CTCF	chr10:112835841-112836228	T-47D	breast:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
29	POLR2A	chr10:112836011-112836539	MCF-7	breast:	n/a	n/a
30	CTCF	chr10:112835854-112836263	HepG2	liver:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
31	MAX	chr10:112835791-112836334	A549	lung:	n/a	n/a
32	SMC3	chr10:112835891-112836168	Hela-S3	cervix:	n/a	chr10:112836044-112836058
33	CTCF	chr10:112835928-112836175	A549	lung:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
34	CTCF	chr10:112835879-112836197	HepG2	liver:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
35	SP4	chr10:112835764-112836200	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr10:112835867-112836259	HepG2	liver:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
37	CTCF	chr10:112835903-112836160	HUVEC	blood vessel:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
38	CTCF	chr10:112835918-112836200	Lung_OC	lung:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
39	CTCF	chr10:112836120-112836270	A549	lung:	n/a	n/a
40	REST	chr10:112835944-112836441	ECC-1	luminal epithelium:	n/a	chr10:112836237-112836246
41	CTCF	chr10:112835907-112836269	GM19239	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
42	CTCF	chr10:112835920-112836160	GM20000	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
43	MAZ	chr10:112835881-112836216	K562	blood:	n/a	n/a
44	RAD21	chr10:112835775-112836439	A549	lung:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
45	MAX	chr10:112835920-112837039	ECC-1	luminal epithelium:	n/a	chr10:112837013-112837023 chr10:112836707-112836716
46	CTCF	chr10:112835887-112836281	MCF-7	breast:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
47	MYC	chr10:112836109-112836235	MCF-7	breast:	n/a	n/a
48	TEAD4	chr10:112835885-112836209	H1-hESC	embryonic stem cell:	n/a	n/a
49	JUND	chr10:112835907-112836380	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr10:112835815-112836237	SK-N-SH_RA	brain:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049

No.	Distal block	Cell Line	Cell type
1	chr10:112835905..112836784-chr10:113041082..113041711,3	MCF-7	breast:
2	chr10:112835556..112836368-chr10:113357671..113358964,3	MCF-7	breast:
3	chr10:112835910..112836421-chr10:113083278..113083990,2	MCF-7	breast:
4	chr10:112835831..112836588-chr10:112967176..112967740,2	MCF-7	breast:

Variant related genes	Relation type
ADRA2A	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498045	chr10:112794518-113353550	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv825566	chr10:112830014-112871333	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527400	chr10:112833561-112843085	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv896004	chr10:112834763-112842961	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3321787	chr10:112835962-112840760	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv896005	chr10:112835992-112846298	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112835400-112837000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:112835400-112838000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:112835600-112836200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:112835600-112836200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr10:112835600-112836200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:112835600-112836200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
7	chr10:112835600-112836200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr10:112835600-112836400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:112835600-112836600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
10	chr10:112835600-112836800	Enhancers	Spleen	Spleen
11	chr10:112835600-112837000	Flanking Active TSS	Right Ventricle	heart
12	chr10:112835600-112837200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr10:112835600-112837400	Bivalent/Poised TSS	A549	lung
14	chr10:112835600-112837800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr10:112835600-112837800	Active TSS	Brain Angular Gyrus	brain
16	chr10:112835600-112837800	Active TSS	HSMMtube	muscle
17	chr10:112835600-112838400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr10:112835600-112838400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr10:112835600-112838400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr10:112835600-112839000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr10:112835600-112839000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr10:112835800-112836200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr10:112835800-112836200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr10:112835800-112836200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
25	chr10:112835800-112836200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr10:112835800-112836200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
27	chr10:112835800-112836200	Bivalent Enhancer	Fetal Thymus	thymus
28	chr10:112835800-112836400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:112835800-112836400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
30	chr10:112835800-112836400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:112835800-112836400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:112835800-112836400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:112835800-112836400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
34	chr10:112835800-112836400	Flanking Active TSS	Pancreas	Pancrea
35	chr10:112835800-112836400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
36	chr10:112835800-112836400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
37	chr10:112835800-112836400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
38	chr10:112835800-112836600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
39	chr10:112835800-112836600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:112835800-112836600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr10:112835800-112836600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr10:112835800-112836600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr10:112835800-112836800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr10:112835800-112836800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr10:112835800-112836800	Active TSS	Psoas Muscle	Psoas
46	chr10:112835800-112836800	Active TSS	Hela-S3	cervix
47	chr10:112835800-112837000	Active TSS	Right Atrium	heart
48	chr10:112835800-112837000	Bivalent/Poised TSS	NHLF	lung
49	chr10:112835800-112837200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr10:112835800-112837400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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