Variant report

Variant	rs16915103
Chromosome Location	chr10:57388044-57388045
allele	G/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	CTCF	chr10:57388001-57388236	H1-hESC	embryonic stem cell:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
2	POLR2A	chr10:57388011-57388233	H1-neurons	neurons:	n/a	n/a
3	CTCF	chr10:57387960-57388110	HEK293	kidney:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
4	ZNF263	chr10:57387258-57388413	HEK293-T-REx	kidney:	n/a	chr10:57387785-57387794 chr10:57387952-57387961
5	CTCF	chr10:57387960-57388110	HRPEpiC	eye:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
6	CTCF	chr10:57388022-57388154	Medullo	brain:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
7	NRF1	chr10:57387923-57388652	SK-N-SH	brain:	n/a	chr10:57388519-57388533 chr10:57388516-57388530
8	CTCF	chr10:57388040-57388190	HRPEpiC	eye:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
9	RAD21	chr10:57387900-57388308	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr10:57387876-57388300	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr10:57387998-57388168	SK-N-SH_RA	brain:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
12	KAP1	chr10:57387665-57388618	HEK293	kidney:	n/a	n/a
13	RFX5	chr10:57387421-57391674	SK-N-SH	brain:	n/a	chr10:57389894-57389902
14	CTCF	chr10:57388013-57388193	MCF-7	breast:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
15	CTCF	chr10:57388020-57388170	A549	lung:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
16	TEAD4	chr10:57388007-57388335	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr10:57387919-57388205	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr10:57388015-57388201	A549	lung:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
19	CTCF	chr10:57388011-57388146	ProgFib	skin:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
20	RAD21	chr10:57387888-57388333	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr10:57387755-57388826	SK-N-SH	brain:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
22	CTCF	chr10:57388000-57388150	SK-N-SH_RA	brain:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
23	CTCF	chr10:57387955-57388208	SK-N-SH_RA	brain:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
24	MXI1	chr10:57386705-57388771	SK-N-SH	brain:	n/a	n/a
25	CEBPB	chr10:57387967-57388151	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr10:57388000-57388150	HRE	kidney:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
27	TBP	chr10:57388044-57388369	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr10:57388040-57388190	SK-N-SH_RA	brain:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
29	CTCF	chr10:57387969-57388253	Gliobla	brain:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
30	SMC3	chr10:57387526-57388681	SK-N-SH	brain:	n/a	chr10:57388390-57388397 chr10:57388442-57388449
31	CTCF	chr10:57388020-57388170	HAc	cerebellar:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
32	E2F6	chr10:57387922-57388248	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr10:57388000-57388150	HBMEC	blood vessel:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
34	RAD21	chr10:57387123-57388736	SK-N-SH	brain:	n/a	n/a
35	JUND	chr10:57387926-57388294	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr10:57387834-57388296	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr10:57388040-57388190	BE2_C	brain:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
38	CTCF	chr10:57388010-57388123	HUVEC	blood vessel:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
39	TAF1	chr10:57387961-57388341	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr10:57388040-57388190	HPF	lung:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
41	CTCF	chr10:57388020-57388170	WERI-Rb-1	eye:	n/a	chr10:57388081-57388094 chr10:57388081-57388094
42	SIN3A	chr10:57387230-57388399	H1-hESC	embryonic stem cell:	n/a	chr10:57387661-57387672

Variant related genes	Relation type
PCDH15	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11004933	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916524	0.95[ASN][1000 genomes]
rs4935137	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56678968	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60742515	0.84[ASN][1000 genomes]
rs61284350	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7075991	0.88[EUR][1000 genomes]
rs7919165	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv895484	chr10:57323162-57389340	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv948019	chr10:57369503-57388877	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
23	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57386800-57388600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:57386800-57388800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:57386800-57388800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:57387000-57388600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:57387000-57388600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr10:57387000-57388600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:57387000-57388600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:57387000-57388800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr10:57387000-57388800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:57387200-57388200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr10:57387200-57388200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
12	chr10:57387200-57388400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:57387200-57388400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr10:57387200-57388600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:57387200-57388600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr10:57387200-57388600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr10:57387200-57388600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:57387200-57388600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:57387200-57388600	Active TSS	Fetal Brain Female	brain
20	chr10:57387200-57388600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
21	chr10:57387200-57388600	Bivalent/Poised TSS	Fetal Lung	lung
22	chr10:57387200-57388600	Active TSS	Right Atrium	heart
23	chr10:57387200-57388600	Enhancers	Spleen	Spleen
24	chr10:57387400-57388400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:57387400-57388400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:57387400-57388400	Active TSS	Brain Anterior Caudate	brain
27	chr10:57387400-57388400	Active TSS	Brain Substantia Nigra	brain
28	chr10:57387400-57388400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr10:57387400-57388400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr10:57387400-57388400	Bivalent/Poised TSS	NHEK	skin
31	chr10:57387400-57388600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:57387400-57388600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:57387400-57388600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr10:57387400-57388600	Bivalent/Poised TSS	Fetal Thymus	thymus
35	chr10:57387400-57388600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr10:57387400-57388800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr10:57387400-57388800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:57387400-57388800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:57387600-57388200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
40	chr10:57387600-57388200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr10:57387600-57388200	Active TSS	Right Ventricle	heart
42	chr10:57387600-57388400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr10:57387600-57388600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr10:57387600-57388800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr10:57387800-57388200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr10:57387800-57388200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
47	chr10:57387800-57388400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:57387800-57388400	Active TSS	Fetal Kidney	kidney
49	chr10:57387800-57388600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:57387800-57388600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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