Variant report

Variant	rs377023028
Chromosome Location	chr10:57390925-57390926
allele	C/T
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	JUND	chr10:57390866-57391334	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr10:57390860-57391010	GM12870	blood:	n/a	n/a
3	POLR2A	chr10:57390772-57391468	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr10:57390705-57391434	MCF-7	breast:	n/a	n/a
5	TAF1	chr10:57390772-57391448	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:57390909-57391367	MCF-7	breast:	n/a	n/a
7	REST	chr10:57390699-57391710	H1-neurons	neurons:	n/a	chr10:57390870-57390880
8	POLR2A	chr10:57390875-57391416	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr10:57390708-57391550	H1-hESC	embryonic stem cell:	n/a	chr10:57390871-57390880
10	CTCF	chr10:57390907-57391374	H1-hESC	embryonic stem cell:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
11	E2F6	chr10:57390755-57391300	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr10:57390728-57391272	A549	lung:	n/a	n/a
13	TAF1	chr10:57390817-57391405	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr10:57390855-57391163	GM12878	blood:	n/a	n/a
15	CTCF	chr10:57390916-57391473	MCF-7	breast:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
16	RAD21	chr10:57390884-57391306	MCF-7	breast:	n/a	chr10:57391215-57391229
17	CTCF	chr10:57390794-57391624	A549	lung:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
18	BACH1	chr10:57390168-57391406	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF7L2	chr10:57390750-57390967	PANC-1	pancreas:	n/a	n/a
20	CTCF	chr10:57389203-57391556	SK-N-SH	brain:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57389621-57389634 chr10:57391240-57391248
21	CTBP2	chr10:57390282-57391476	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr10:57390852-57391412	A549	lung:	n/a	chr10:57391215-57391229
23	RAD21	chr10:57390877-57391422	SK-N-SH_RA	brain:	n/a	chr10:57391215-57391229
24	RFX5	chr10:57387421-57391674	SK-N-SH	brain:	n/a	chr10:57389894-57389902
25	RFX5	chr10:57390540-57391620	IMR90	lung:	n/a	n/a
26	CTCF	chr10:57390901-57391411	H1-hESC	embryonic stem cell:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
27	CHD1	chr10:57390842-57391180	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr10:57390854-57391220	GM12878	blood:	n/a	n/a
29	ZNF263	chr10:57390835-57391551	HEK293-T-REx	kidney:	n/a	chr10:57391236-57391257 chr10:57391223-57391232
30	YY1	chr10:57390786-57391290	SK-N-SH_RA	brain:	n/a	n/a
31	RAD21	chr10:57390918-57391416	H1-hESC	embryonic stem cell:	n/a	chr10:57391215-57391229
32	RFX5	chr10:57389683-57391524	H1-hESC	embryonic stem cell:	n/a	chr10:57389894-57389902
33	ZNF143	chr10:57390316-57391539	H1-hESC	embryonic stem cell:	n/a	chr10:57391158-57391176 chr10:57391357-57391376
34	CREB1	chr10:57390898-57391322	A549	lung:	n/a	n/a
35	RAD21	chr10:57390327-57391701	SK-N-SH	brain:	n/a	chr10:57391215-57391229
36	CTCF	chr10:57390868-57391410	T-47D	breast:	n/a	chr10:57391216-57391229 chr10:57391108-57391121 chr10:57391240-57391248
37	CREB1	chr10:57390736-57391226	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr10:57390777-57391359	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr10:57390925-57391107	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr10:57390906-57391377	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:57390780-57390930	HCPEpiC	choroid plexus:	n/a	n/a
42	RAD21	chr10:57390788-57391513	H1-hESC	embryonic stem cell:	n/a	chr10:57391215-57391229
43	YY1	chr10:57390635-57391351	H1-hESC	embryonic stem cell:	n/a	n/a
44	SMC3	chr10:57390071-57391602	SK-N-SH	brain:	n/a	n/a
45	MAX	chr10:57390910-57391482	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr10:57390673-57391511	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr10:57390743-57391444	A549	lung:	n/a	n/a
48	RAD21	chr10:57390829-57391573	H1-hESC	embryonic stem cell:	n/a	chr10:57391215-57391229
49	TBP	chr10:57390698-57391533	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr10:57390779-57391353	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:57046815..57047629-chr10:57390561..57391169,3	MCF-7	breast:

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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57389400-57391000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:57389400-57391600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:57389600-57391000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:57389600-57391000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr10:57389600-57391000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:57389600-57391200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:57389600-57391200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:57389600-57391200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
9	chr10:57389600-57391400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:57389600-57391400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:57389600-57391400	Active TSS	Fetal Heart	heart
12	chr10:57389600-57391400	Bivalent/Poised TSS	Left Ventricle	heart
13	chr10:57389600-57391400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
14	chr10:57389600-57391600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:57389600-57391600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr10:57389600-57391600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr10:57389600-57391600	Active TSS	Right Atrium	heart
18	chr10:57389600-57391600	Active TSS	Right Ventricle	heart
19	chr10:57389800-57391000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
20	chr10:57389800-57391000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:57389800-57391400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr10:57389800-57391400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
23	chr10:57389800-57391400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr10:57389800-57391400	Active TSS	NHDF-Ad	bronchial
25	chr10:57390000-57391000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:57390000-57391200	Active TSS	Gastric	stomach
27	chr10:57390000-57391400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:57390000-57391400	Active TSS	Brain Angular Gyrus	brain
29	chr10:57390000-57391400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr10:57390000-57391600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:57390000-57391600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
32	chr10:57390200-57391000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr10:57390200-57391000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr10:57390200-57391000	Flanking Active TSS	Pancreas	Pancrea
35	chr10:57390200-57391200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:57390200-57391200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:57390200-57391400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr10:57390200-57391400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
39	chr10:57390200-57391400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr10:57390200-57391400	Bivalent/Poised TSS	HSMMtube	muscle
41	chr10:57390200-57391600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr10:57390400-57391200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:57390400-57391200	Active TSS	Brain Anterior Caudate	brain
44	chr10:57390400-57391200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:57390400-57391400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:57390400-57391400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:57390400-57391400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr10:57390400-57391600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr10:57390400-57391600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr10:57390400-57391600	Active TSS	Brain Substantia Nigra	brain

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