Variant report

Variant	rs570619079
Chromosome Location	chr10:112835942-112835943
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	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	CTCF	chr10:112835940-112836090	BJ	skin:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
11	MAZ	chr10:112835938-112836165	HepG2	liver:	n/a	n/a
12	CTCF	chr10:112835937-112836153	SK-N-SH_RA	brain:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
13	CTCF	chr10:112835900-112836050	GM12801	blood:	n/a	chr10:112836035-112836048
14	RAD21	chr10:112835872-112836201	GM12878	blood:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
15	CTCF	chr10:112835883-112836248	GM12892	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
16	CTCF	chr10:112835820-112836196	K562	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
17	CTCF	chr10:112835940-112836090	GM12864	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
18	YY1	chr10:112835892-112836274	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr10:112835878-112836166	K562	blood:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
20	CTCF	chr10:112835940-112836090	HMF	breast:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
21	ELF1	chr10:112835583-112836490	GM12878	blood:	n/a	n/a
22	CTCF	chr10:112835940-112836090	HRE	kidney:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
23	SMC3	chr10:112835877-112836227	GM12878	blood:	n/a	chr10:112836044-112836058
24	CTCF	chr10:112835940-112836090	AG10803	skin:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
25	CTCF	chr10:112835889-112836181	SK-N-SH_RA	brain:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
26	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
27	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
28	CTCF	chr10:112835917-112836147	GM13976	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
29	SIN3A	chr10:112835862-112837044	H1-hESC	embryonic stem cell:	n/a	chr10:112836164-112836175 chr10:112836796-112836805
30	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
31	CTCF	chr10:112835667-112836460	HCT-116	colon:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
32	CTCF	chr10:112835906-112836222	NHEK	skin:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
33	RAD21	chr10:112835814-112836330	ECC-1	luminal epithelium:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
34	CTCF	chr10:112835841-112836228	T-47D	breast:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060 chr10:112835841-112835850
35	CTCF	chr10:112835940-112836090	GM12870	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
36	CTCF	chr10:112835940-112836090	GM12872	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
37	CTCF	chr10:112835854-112836263	HepG2	liver:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
38	CTCF	chr10:112835940-112836090	AG09319	gingival:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
39	MAX	chr10:112835791-112836334	A549	lung:	n/a	n/a
40	SMC3	chr10:112835891-112836168	Hela-S3	cervix:	n/a	chr10:112836044-112836058
41	CTCF	chr10:112835920-112836070	HEEpiC	esophagus:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
42	CTCF	chr10:112835928-112836175	A549	lung:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
43	CTCF	chr10:112835879-112836197	HepG2	liver:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
44	SP4	chr10:112835764-112836200	H1-hESC	embryonic stem cell:	n/a	n/a
45	PAX5	chr10:112835926-112836085	GM12878	blood:	n/a	chr10:112836026-112836035
46	RAD21	chr10:112835867-112836259	HepG2	liver:	n/a	chr10:112836044-112836053 chr10:112836043-112836062 chr10:112836036-112836049
47	CTCF	chr10:112835903-112836160	HUVEC	blood vessel:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
48	CTCF	chr10:112835918-112836200	Lung_OC	lung:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060
49	YY1	chr10:112835928-112836112	K562	blood:	n/a	n/a
50	CTCF	chr10:112835907-112836269	GM19239	blood:	n/a	chr10:112836045-112836053 chr10:112836035-112836048 chr10:112836044-112836065 chr10:112836042-112836060

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	chr10:112835558..112836069-chr10:112858564..112859533,2	MCF-7	breast:
5	chr10:112835831..112836588-chr10:112967176..112967740,2	MCF-7	breast:

Variant related genes	Relation type
ADRA2A	TF binding region

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	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112835400-112836000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
2	chr10:112835400-112836000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr10:112835400-112836000	Flanking Active TSS	Fetal Brain Female	brain
4	chr10:112835400-112836000	Bivalent Enhancer	Fetal Heart	heart
5	chr10:112835400-112837000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:112835400-112838000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:112835600-112836000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:112835600-112836000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:112835600-112836000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:112835600-112836000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:112835600-112836000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:112835600-112836000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr10:112835600-112836000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr10:112835600-112836000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr10:112835600-112836000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr10:112835600-112836000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:112835600-112836000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:112835600-112836000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:112835600-112836000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr10:112835600-112836000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
21	chr10:112835600-112836000	Bivalent Enhancer	Placenta	Placenta
22	chr10:112835600-112836000	Enhancers	Gastric	stomach
23	chr10:112835600-112836000	Bivalent Enhancer	Left Ventricle	heart
24	chr10:112835600-112836000	Enhancers	Lung	lung
25	chr10:112835600-112836000	Bivalent Enhancer	HMEC	breast
26	chr10:112835600-112836200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:112835600-112836200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr10:112835600-112836200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:112835600-112836200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr10:112835600-112836200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr10:112835600-112836400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:112835600-112836600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
33	chr10:112835600-112836800	Enhancers	Spleen	Spleen
34	chr10:112835600-112837000	Flanking Active TSS	Right Ventricle	heart
35	chr10:112835600-112837200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
36	chr10:112835600-112837400	Bivalent/Poised TSS	A549	lung
37	chr10:112835600-112837800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr10:112835600-112837800	Active TSS	Brain Angular Gyrus	brain
39	chr10:112835600-112837800	Active TSS	HSMMtube	muscle
40	chr10:112835600-112838400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr10:112835600-112838400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr10:112835600-112838400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr10:112835600-112839000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr10:112835600-112839000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr10:112835800-112836000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr10:112835800-112836000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:112835800-112836000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:112835800-112836000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr10:112835800-112836000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr10:112835800-112836000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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