Variant report

Variant	rs373997154
Chromosome Location	chr10:57391393-57391394
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	POLR2A	chr10:57390772-57391468	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr10:57390705-57391434	MCF-7	breast:	n/a	n/a
3	TAF1	chr10:57390772-57391448	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr10:57390699-57391710	H1-neurons	neurons:	n/a	chr10:57390870-57390880
5	POLR2A	chr10:57390875-57391416	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr10:57390708-57391550	H1-hESC	embryonic stem cell:	n/a	chr10:57390871-57390880
7	TAF1	chr10:57390817-57391405	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr10:57391280-57391430	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr10:57390916-57391473	MCF-7	breast:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
10	CTCF	chr10:57390794-57391624	A549	lung:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
11	BACH1	chr10:57390168-57391406	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr10:57389203-57391556	SK-N-SH	brain:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57389621-57389634 chr10:57391240-57391248
13	CTCF	chr10:57391380-57391530	RPTEC	kidney:	n/a	n/a
14	CTBP2	chr10:57390282-57391476	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr10:57390852-57391412	A549	lung:	n/a	chr10:57391215-57391229
16	RAD21	chr10:57390877-57391422	SK-N-SH_RA	brain:	n/a	chr10:57391215-57391229
17	RFX5	chr10:57387421-57391674	SK-N-SH	brain:	n/a	chr10:57389894-57389902
18	RFX5	chr10:57390540-57391620	IMR90	lung:	n/a	n/a
19	RAD21	chr10:57390999-57391399	A549	lung:	n/a	chr10:57391215-57391229
20	CTCF	chr10:57390901-57391411	H1-hESC	embryonic stem cell:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
21	ZNF263	chr10:57390835-57391551	HEK293-T-REx	kidney:	n/a	chr10:57391236-57391257 chr10:57391223-57391232
22	CTCF	chr10:57391280-57391430	HFF-Myc	foreskin:	n/a	n/a
23	RAD21	chr10:57390918-57391416	H1-hESC	embryonic stem cell:	n/a	chr10:57391215-57391229
24	RFX5	chr10:57389683-57391524	H1-hESC	embryonic stem cell:	n/a	chr10:57389894-57389902
25	ZNF143	chr10:57390316-57391539	H1-hESC	embryonic stem cell:	n/a	chr10:57391158-57391176 chr10:57391357-57391376
26	CTCF	chr10:57391320-57391470	GM12878	blood:	n/a	n/a
27	KAP1	chr10:57391190-57391558	U2OS	brain:	n/a	n/a
28	RAD21	chr10:57390327-57391701	SK-N-SH	brain:	n/a	chr10:57391215-57391229
29	CTCF	chr10:57390868-57391410	T-47D	breast:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
30	RAD21	chr10:57390788-57391513	H1-hESC	embryonic stem cell:	n/a	chr10:57391215-57391229
31	KAP1	chr10:57390981-57391548	HEK293	kidney:	n/a	n/a
32	SMC3	chr10:57390071-57391602	SK-N-SH	brain:	n/a	n/a
33	MAX	chr10:57390910-57391482	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr10:57390673-57391511	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr10:57390743-57391444	A549	lung:	n/a	n/a
36	RAD21	chr10:57390829-57391573	H1-hESC	embryonic stem cell:	n/a	chr10:57391215-57391229
37	TBP	chr10:57390698-57391533	H1-hESC	embryonic stem cell:	n/a	n/a
38	ELF1	chr10:57390884-57391498	MCF-7	breast:	n/a	chr10:57391149-57391158
39	GABPA	chr10:57390853-57391403	MCF-7	breast:	n/a	n/a
40	MAX	chr10:57390941-57391457	MCF-7	breast:	n/a	n/a
41	ELF1	chr10:57390884-57391433	GM12878	blood:	n/a	chr10:57391149-57391158
42	POLR2A	chr10:57390905-57391432	H1-neurons	neurons:	n/a	n/a
43	HDAC2	chr10:57390925-57391469	MCF-7	breast:	n/a	n/a
44	E2F6	chr10:57390658-57391399	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr10:57390878-57391494	MCF-7	breast:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
46	POLR2A	chr10:57391086-57391414	H1-hESC	embryonic stem cell:	n/a	n/a
47	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:91 , 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	chr10:57389600-57391400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:57389600-57391400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:57389600-57391400	Active TSS	Fetal Heart	heart
5	chr10:57389600-57391400	Bivalent/Poised TSS	Left Ventricle	heart
6	chr10:57389600-57391400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr10:57389600-57391600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:57389600-57391600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:57389600-57391600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr10:57389600-57391600	Active TSS	Right Atrium	heart
11	chr10:57389600-57391600	Active TSS	Right Ventricle	heart
12	chr10:57389800-57391400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr10:57389800-57391400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
14	chr10:57389800-57391400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
15	chr10:57389800-57391400	Active TSS	NHDF-Ad	bronchial
16	chr10:57390000-57391400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:57390000-57391400	Active TSS	Brain Angular Gyrus	brain
18	chr10:57390000-57391400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr10:57390000-57391600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:57390000-57391600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
21	chr10:57390200-57391400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr10:57390200-57391400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
23	chr10:57390200-57391400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr10:57390200-57391400	Bivalent/Poised TSS	HSMMtube	muscle
25	chr10:57390200-57391600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr10:57390400-57391400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:57390400-57391400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:57390400-57391400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr10:57390400-57391600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr10:57390400-57391600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr10:57390400-57391600	Active TSS	Brain Substantia Nigra	brain
32	chr10:57390400-57391600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr10:57390400-57391600	Bivalent/Poised TSS	NH-A	brain
34	chr10:57390600-57391400	Flanking Active TSS	Liver	Liver
35	chr10:57390600-57391400	Active TSS	HSMM	muscle
36	chr10:57390600-57391600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr10:57390600-57391600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:57390600-57391600	Flanking Active TSS	Fetal Brain Female	brain
39	chr10:57390600-57391600	Bivalent Enhancer	Small Intestine	intestine
40	chr10:57390600-57391600	Active TSS	A549	lung
41	chr10:57390800-57391400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:57390800-57391400	Active TSS	Brain Cingulate Gyrus	brain
43	chr10:57390800-57391400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
44	chr10:57390800-57391400	Active TSS	Fetal Kidney	kidney
45	chr10:57390800-57391400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
46	chr10:57390800-57391400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr10:57390800-57391400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
48	chr10:57390800-57391400	Bivalent/Poised TSS	Stomach Mucosa	stomach
49	chr10:57390800-57391400	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr10:57390800-57391400	Bivalent/Poised TSS	NHEK	skin

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