Variant report

Variant	rs7073224
Chromosome Location	chr10:26223230-26223231
allele	A/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	chr10:26222827-26224029	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr10:26222970-26224104	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr10:26222856-26223431	H1-hESC	embryonic stem cell:	n/a	chr10:26223171-26223182 chr10:26223009-26223023 chr10:26223290-26223301 chr10:26223390-26223404
4	CTCF	chr10:26222955-26223378	H1-hESC	embryonic stem cell:	n/a	chr10:26223136-26223154 chr10:26223020-26223038 chr10:26223025-26223038
5	CTCF	chr10:26223048-26223241	H1-hESC	embryonic stem cell:	n/a	chr10:26223136-26223154
6	RAD21	chr10:26222666-26223514	H1-hESC	embryonic stem cell:	n/a	chr10:26223138-26223152 chr10:26223022-26223036 chr10:26223026-26223039
7	E2F6	chr10:26222926-26224162	H1-hESC	embryonic stem cell:	n/a	chr10:26223487-26223494 chr10:26223306-26223316 chr10:26223245-26223257 chr10:26223487-26223494 chr10:26223487-26223494 chr10:26223575-26223584
8	CTBP2	chr10:26222502-26223396	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr10:26222970-26223529	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:26222469-26223532	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr10:26222967-26223340	H1-hESC	embryonic stem cell:	n/a	chr10:26223138-26223152 chr10:26223022-26223036 chr10:26223026-26223039
12	ZNF143	chr10:26222871-26223447	H1-hESC	embryonic stem cell:	n/a	chr10:26223345-26223363 chr10:26223306-26223316 chr10:26223211-26223221
13	YY1	chr10:26222928-26223460	H1-hESC	embryonic stem cell:	n/a	chr10:26223171-26223182 chr10:26223009-26223023 chr10:26223290-26223301 chr10:26223390-26223404
14	BACH1	chr10:26222706-26224176	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr10:26222910-26223555	H1-hESC	embryonic stem cell:	n/a	n/a
16	GTF2F1	chr10:26223117-26223317	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF7	chr10:26223067-26223523	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr10:26222750-26224177	H1-hESC	embryonic stem cell:	n/a	chr10:26223487-26223494 chr10:26223306-26223316 chr10:26223245-26223257 chr10:26223487-26223494 chr10:26223487-26223494 chr10:26223575-26223584
19	TAF1	chr10:26222941-26223512	H1-hESC	embryonic stem cell:	n/a	n/a
20	TBP	chr10:26222527-26224042	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr10:26222742-26223250	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr10:26223160-26223310	RPTEC	kidney:	n/a	n/a
23	CHD1	chr10:26222852-26223377	H1-hESC	embryonic stem cell:	n/a	chr10:26223182-26223192
24	SIN3A	chr10:26223196-26223496	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr10:26223080-26223230	HRE	kidney:	n/a	chr10:26223136-26223154
26	ZNF263	chr10:26222628-26224162	HEK293-T-REx	kidney:	n/a	chr10:26223905-26223914 chr10:26223543-26223552 chr10:26223831-26223852
27	CTCF	chr10:26222905-26223296	H1-hESC	embryonic stem cell:	n/a	chr10:26223136-26223154 chr10:26223020-26223038 chr10:26223025-26223038
28	RAD21	chr10:26222808-26223604	H1-hESC	embryonic stem cell:	n/a	chr10:26223138-26223152 chr10:26223022-26223036 chr10:26223026-26223039
29	MAX	chr10:26222909-26224094	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:26223206-26223256	SK-N-MC	brain:	n/a
2	chr10:26223206-26223256	GM06990	blood:	n/a
3	chr10:26223206-26223256	HCT-116	colon:	n/a
4	chr10:26223206-26223256	AG10803	skin:	n/a
5	chr10:26223206-26223256	HepG2	liver:	n/a
6	chr10:26223206-26223256	SK-N-SH_RA	brain:	n/a
7	chr10:26223206-26223256	SAEC	small airway:	n/a
8	chr10:26223206-26223256	HL-60	blood:	n/a
9	chr10:26223206-26223256	Hepatocyte	liver:	n/a
10	chr10:26223206-26223256	NT2-D1	testis:	n/a
11	chr10:26223206-26223256	HRPEpiC	eye:	n/a
12	chr10:26223206-26223256	HCF	heart:	n/a
13	chr10:26223206-26223256	GM19239	blood:	n/a
14	chr10:26223206-26223256	HUVEC	blood vessel:	n/a
15	chr10:26223206-26223256	SK-N-SH	brain:	n/a
16	chr10:26223206-26223256	SKMC	muscle:	n/a
17	chr10:26223206-26223256	AG09319	gingival:	n/a
18	chr10:26223206-26223256	A549	lung:	n/a
19	chr10:26223206-26223256	BJ	skin:	n/a
20	chr10:26223206-26223256	HRE	kidney:	n/a
21	chr10:26223206-26223256	HIPEpiC	eye:	n/a
22	chr10:26223206-26223256	T-47D	breast:	n/a
23	chr10:26223206-26223256	PFSK-1	brain:	n/a
24	chr10:26223206-26223256	HAEpiC	amniotic membrane:	n/a
25	chr10:26223206-26223256	HRCEpiC	kidney:	n/a
26	chr10:26223206-26223256	Hela-S3	cervix:	n/a
27	chr10:26223206-26223256	BE2_C	brain:	n/a
28	chr10:26223206-26223256	HCPEpiC	choroid plexus:	n/a
29	chr10:26223206-26223256	CMK	blood:	n/a
30	chr10:26223206-26223256	AG04449	skin:	fetal
31	chr10:26223206-26223256	AG09309	skin:	n/a
32	chr10:26223206-26223256	HMEC	breast:	n/a
33	chr10:26223206-26223256	AG04450	lung:	fetal
34	chr10:26223206-26223256	HPAEpiC	pulmonary alveolar:	n/a
35	chr10:26223206-26223256	ECC-1	luminal epithelium:	n/a
36	chr10:26223206-26223256	IMR90	lung:	fetal
37	chr10:26223206-26223256	HCM	heart:	n/a
38	chr10:26223206-26223256	PrEC	prostate:	n/a
39	chr10:26223206-26223256	MCF10A-Er-Src	breast:	n/a
40	chr10:26223206-26223256	GM12878	blood:	n/a
41	chr10:26223206-26223256	GM12892	blood:	n/a
42	chr10:26223206-26223256	K562	blood:	n/a
43	chr10:26223206-26223256	RPTEC	kidney:	n/a
44	chr10:26223206-26223256	H1-hESC	embryonic stem cell:	embryo
45	chr10:26223206-26223256	GM12891	blood:	n/a
46	chr10:26223206-26223256	ProgFib	skin:	n/a
47	chr10:26223206-26223256	Caco-2	colon:	n/a
48	chr10:26223206-26223256	HNPCEpiC	eye:	n/a
49	chr10:26223206-26223256	U87	brain:	n/a
50	chr10:26223206-26223256	NHBE	bronchial:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABI1-5	chr10:26222483-26223260	NONHSAT011819

Variant related genes	Relation type
ENSG00000226304	TF binding region
MYO3A	TF binding region
ENSG00000226304	CpG island
MYO3A	CpG island

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10128298	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10828904	1.00[ASN][1000 genomes]
rs10828905	1.00[ASN][1000 genomes]
rs11014734	1.00[ASN][1000 genomes]
rs11014799	1.00[ASN][1000 genomes]
rs11014865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11014867	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11014873	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812752	1.00[ASN][1000 genomes]
rs11813250	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818246	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818641	1.00[ASN][1000 genomes]
rs12244769	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12245237	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259899	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12265873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316407	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926494	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528260	1.00[ASN][1000 genomes]
rs17666634	1.00[ASN][1000 genomes]
rs17738073	1.00[ASN][1000 genomes]
rs17738672	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2437382	1.00[ASN][1000 genomes]
rs2437383	1.00[ASN][1000 genomes]
rs2437385	1.00[ASN][1000 genomes]
rs2437387	1.00[ASN][1000 genomes]
rs2437393	1.00[ASN][1000 genomes]
rs2437398	1.00[ASN][1000 genomes]
rs2437406	1.00[ASN][1000 genomes]
rs2437407	1.00[ASN][1000 genomes]
rs2437411	1.00[ASN][1000 genomes]
rs2437412	1.00[ASN][1000 genomes]
rs2437417	1.00[ASN][1000 genomes]
rs2437418	1.00[ASN][1000 genomes]
rs2437423	1.00[ASN][1000 genomes]
rs2442830	1.00[ASN][1000 genomes]
rs2442834	1.00[ASN][1000 genomes]
rs2442835	1.00[ASN][1000 genomes]
rs2442836	1.00[ASN][1000 genomes]
rs2442837	1.00[ASN][1000 genomes]
rs2442841	1.00[ASN][1000 genomes]
rs2442844	1.00[ASN][1000 genomes]
rs2442845	1.00[ASN][1000 genomes]
rs2442846	1.00[ASN][1000 genomes]
rs2442848	1.00[ASN][1000 genomes]
rs2505419	1.00[ASN][1000 genomes]
rs2505428	1.00[ASN][1000 genomes]
rs2505432	1.00[ASN][1000 genomes]
rs2505435	1.00[ASN][1000 genomes]
rs2505436	1.00[ASN][1000 genomes]
rs2505437	1.00[ASN][1000 genomes]
rs2505442	1.00[ASN][1000 genomes]
rs2505470	1.00[ASN][1000 genomes]
rs2505471	1.00[ASN][1000 genomes]
rs2505472	1.00[ASN][1000 genomes]
rs2505473	1.00[ASN][1000 genomes]
rs2505474	1.00[ASN][1000 genomes]
rs2505476	1.00[ASN][1000 genomes]
rs2505479	1.00[ASN][1000 genomes]
rs2505480	1.00[ASN][1000 genomes]
rs2505481	1.00[ASN][1000 genomes]
rs2505482	1.00[ASN][1000 genomes]
rs2505483	1.00[ASN][1000 genomes]
rs2505489	1.00[ASN][1000 genomes]
rs2505491	1.00[ASN][1000 genomes]
rs2505496	1.00[ASN][1000 genomes]
rs2505497	1.00[ASN][1000 genomes]
rs2505499	1.00[ASN][1000 genomes]
rs2923024	1.00[ASN][1000 genomes]
rs3006247	1.00[ASN][1000 genomes]
rs3006261	1.00[ASN][1000 genomes]
rs3006267	1.00[ASN][1000 genomes]
rs56091425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384418	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482521	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482522	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66470511	1.00[ASN][1000 genomes]
rs7073084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7074259	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084069	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093785	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095361	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095669	1.00[ASN][1000 genomes]
rs7096963	1.00[ASN][1000 genomes]
rs72789911	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789916	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789918	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789921	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789932	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789935	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789936	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789937	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789941	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789943	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797835	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797838	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797849	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797851	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797853	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797855	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7900700	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906568	1.00[ASN][1000 genomes]
rs7906569	1.00[ASN][1000 genomes]
rs7917417	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872752	1.00[CEU][hapmap]
rs872753	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872754	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299809	1.00[ASN][1000 genomes]
rs9299810	1.00[ASN][1000 genomes]
rs9417455	1.00[ASN][1000 genomes]
rs946688	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9731088	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894974	chr10:26028530-26322783	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1051756	chr10:26092320-26277478	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26222400-26224000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr10:26222400-26224200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr10:26222400-26224200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:26222400-26224800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:26222400-26228000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr10:26222600-26223600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr10:26222600-26224200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr10:26222600-26224200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:26222600-26224200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:26222600-26224200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:26222600-26224200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
12	chr10:26222600-26224400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:26222800-26223400	Active TSS	Brain Germinal Matrix	brain
14	chr10:26222800-26223600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:26222800-26223600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:26222800-26223600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:26222800-26223600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr10:26222800-26223600	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr10:26222800-26223800	Active TSS	Right Ventricle	heart
20	chr10:26222800-26224000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:26222800-26224000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr10:26222800-26224000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr10:26222800-26224000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:26222800-26224000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:26222800-26224000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr10:26222800-26224000	Bivalent Enhancer	Placenta	Placenta
27	chr10:26222800-26224000	Active TSS	Pancreas	Pancrea
28	chr10:26222800-26224000	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr10:26222800-26224000	Active TSS	Right Atrium	heart
30	chr10:26222800-26224200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:26222800-26224200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr10:26222800-26224200	Active TSS	Brain Anterior Caudate	brain
33	chr10:26222800-26224200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:26222800-26224200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr10:26222800-26224200	Bivalent Enhancer	Fetal Brain Male	brain
36	chr10:26223000-26223400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:26223000-26223800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
38	chr10:26223000-26224000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr10:26223000-26224000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:26223000-26224000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:26223000-26224000	Active TSS	Aorta	Aorta
42	chr10:26223000-26224000	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr10:26223000-26224000	Bivalent/Poised TSS	Fetal Thymus	thymus
44	chr10:26223000-26224200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:26223000-26224200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:26223000-26224200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr10:26223000-26224200	Bivalent/Poised TSS	Thymus	Thymus
48	chr10:26223000-26224200	Bivalent/Poised TSS	A549	lung
49	chr10:26223000-26224400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:26223000-26224400	Active TSS	HUES6 Cell Line	embryonic stem cell

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