Variant report

Variant	rs556697823
Chromosome Location	chr10:57391457-57391458
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	POLR2A	chr10:57390772-57391468	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr10:57390699-57391710	H1-neurons	neurons:	n/a	chr10:57390870-57390880
3	SIN3A	chr10:57390708-57391550	H1-hESC	embryonic stem cell:	n/a	chr10:57390871-57390880
4	CTCF	chr10:57390916-57391473	MCF-7	breast:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
5	CTCF	chr10:57390794-57391624	A549	lung:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
6	CTCF	chr10:57389203-57391556	SK-N-SH	brain:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57389621-57389634 chr10:57391240-57391248
7	CTCF	chr10:57391380-57391530	RPTEC	kidney:	n/a	n/a
8	CTBP2	chr10:57390282-57391476	H1-hESC	embryonic stem cell:	n/a	n/a
9	RFX5	chr10:57387421-57391674	SK-N-SH	brain:	n/a	chr10:57389894-57389902
10	RFX5	chr10:57390540-57391620	IMR90	lung:	n/a	n/a
11	ZNF263	chr10:57390835-57391551	HEK293-T-REx	kidney:	n/a	chr10:57391236-57391257 chr10:57391223-57391232
12	RFX5	chr10:57389683-57391524	H1-hESC	embryonic stem cell:	n/a	chr10:57389894-57389902
13	ZNF143	chr10:57390316-57391539	H1-hESC	embryonic stem cell:	n/a	chr10:57391158-57391176 chr10:57391357-57391376
14	CTCF	chr10:57391320-57391470	GM12878	blood:	n/a	n/a
15	KAP1	chr10:57391190-57391558	U2OS	brain:	n/a	n/a
16	RAD21	chr10:57390327-57391701	SK-N-SH	brain:	n/a	chr10:57391215-57391229
17	RAD21	chr10:57390788-57391513	H1-hESC	embryonic stem cell:	n/a	chr10:57391215-57391229
18	KAP1	chr10:57390981-57391548	HEK293	kidney:	n/a	n/a
19	SMC3	chr10:57390071-57391602	SK-N-SH	brain:	n/a	n/a
20	MAX	chr10:57390910-57391482	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:57390673-57391511	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr10:57390829-57391573	H1-hESC	embryonic stem cell:	n/a	chr10:57391215-57391229
23	TBP	chr10:57390698-57391533	H1-hESC	embryonic stem cell:	n/a	n/a
24	ELF1	chr10:57390884-57391498	MCF-7	breast:	n/a	chr10:57391149-57391158
25	MAX	chr10:57390941-57391457	MCF-7	breast:	n/a	n/a
26	HDAC2	chr10:57390925-57391469	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:57390878-57391494	MCF-7	breast:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
28	HA-E2F1	chr10:57390727-57391571	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
PCDH15	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039099	chr10:56984902-57394831	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv540641	chr10:56984902-57394831	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1040047	chr10:57007182-57979747	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv895480	chr10:57120283-57539172	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1046216	chr10:57132407-57470412	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2761598	chr10:57143239-57656115	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1040346	chr10:57166917-57410348	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv993479	chr10:57187055-57404999	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv895482	chr10:57213026-57476292	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1053051	chr10:57252816-57638793	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1053015	chr10:57304437-57467168	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1041500	chr10:57317208-57638793	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv895485	chr10:57323162-57431871	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv895486	chr10:57323162-57476292	Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1048800	chr10:57333479-57430517	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv895487	chr10:57335764-57476292	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv895488	chr10:57345779-57401749	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv551045	chr10:57351781-57442129	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv895489	chr10:57354709-57420417	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1048148	chr10:57359414-57498605	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv428558	chr10:57383256-57524282	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv895490	chr10:57390762-57506658	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57389400-57391600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr10:57389600-57391600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:57389600-57391600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:57389600-57391600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr10:57389600-57391600	Active TSS	Right Atrium	heart
6	chr10:57389600-57391600	Active TSS	Right Ventricle	heart
7	chr10:57390000-57391600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:57390000-57391600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
9	chr10:57390200-57391600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr10:57390400-57391600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr10:57390400-57391600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr10:57390400-57391600	Active TSS	Brain Substantia Nigra	brain
13	chr10:57390400-57391600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr10:57390400-57391600	Bivalent/Poised TSS	NH-A	brain
15	chr10:57390600-57391600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr10:57390600-57391600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:57390600-57391600	Flanking Active TSS	Fetal Brain Female	brain
18	chr10:57390600-57391600	Bivalent Enhancer	Small Intestine	intestine
19	chr10:57390600-57391600	Active TSS	A549	lung
20	chr10:57390800-57391600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr10:57390800-57391600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:57390800-57391600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:57390800-57391600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr10:57390800-57391600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr10:57391000-57391600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr10:57391000-57391600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:57391000-57391600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr10:57391000-57391600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:57391000-57391600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:57391000-57391600	ZNF genes & repeats	Placenta	Placenta
31	chr10:57391200-57391600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:57391200-57391600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:57391200-57391600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:57391200-57391600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr10:57391200-57391600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:57391200-57391600	Active TSS	Colonic Mucosa	Colon
37	chr10:57391200-57391600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr10:57391200-57391600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr10:57391200-57391600	Flanking Active TSS	Fetal Brain Male	brain
40	chr10:57391200-57391600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr10:57391200-57391600	Flanking Active TSS	HUVEC	blood vessel
42	chr10:57391400-57391600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:57391400-57391600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:57391400-57391600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr10:57391400-57391600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr10:57391400-57391600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr10:57391400-57391600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:57391400-57391600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr10:57391400-57391600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr10:57391400-57391600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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