Variant report

Variant	rs187971
Chromosome Location	chr1:86843039-86843040
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	KAP1	chr1:86842971-86843524	HEK293	kidney:	n/a	n/a
2	SETDB1	chr1:86843012-86843455	K562	blood:	n/a	n/a
3	KAP1	chr1:86842884-86843403	K562	blood:	n/a	n/a
4	POLR2A	chr1:86842991-86843097	H1-hESC	embryonic stem cell:	n/a	n/a
5	SETDB1	chr1:86842990-86843558	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ODF2L	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10493789	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10747328	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10873777	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1158505	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1182102	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1334143	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1334146	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1334147	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1334148	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs166626	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs166627	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17129078	0.81[ASN][1000 genomes]
rs175363	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1931363	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2104963	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2151708	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2151709	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250857	0.81[ASN][1000 genomes]
rs272491	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs272492	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs272494	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs272498	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs272504	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272507	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs272510	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs272511	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272516	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3765975	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs405424	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4288573	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61804060	0.81[ASN][1000 genomes]
rs6695671	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883200	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1793594	chr1:86833653-86858957	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86815200-86860200	Weak transcription	Fetal Brain Male	brain
2	chr1:86817200-86843800	Weak transcription	Small Intestine	intestine
3	chr1:86818000-86843200	Weak transcription	Pancreas	Pancrea
4	chr1:86818000-86851600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:86820200-86843400	Weak transcription	Left Ventricle	heart
6	chr1:86820200-86854400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:86820200-86854800	Weak transcription	HSMMtube	muscle
8	chr1:86820400-86845400	Weak transcription	Hela-S3	cervix
9	chr1:86820400-86846200	Weak transcription	NHLF	lung
10	chr1:86820400-86846400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:86820400-86847000	Weak transcription	Liver	Liver
12	chr1:86820400-86848000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:86820400-86860200	Weak transcription	NHEK	skin
14	chr1:86820600-86848000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:86822400-86846200	Weak transcription	Gastric	stomach
16	chr1:86824000-86848200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:86836600-86860800	Weak transcription	Aorta	Aorta
18	chr1:86838200-86843600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:86838200-86845800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:86839800-86846800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:86839800-86848200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:86840200-86843400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:86840400-86843800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:86840600-86848200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:86840600-86859600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:86840800-86848600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:86841000-86849000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:86841000-86849400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:86841000-86851400	Weak transcription	HMEC	breast
30	chr1:86841000-86854400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:86841000-86859800	Weak transcription	HSMM	muscle
32	chr1:86841400-86843200	Strong transcription	Fetal Intestine Large	intestine
33	chr1:86841600-86845800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:86841600-86859800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:86841800-86855000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr1:86842000-86843600	Weak transcription	Osteobl	bone
37	chr1:86842000-86844000	Weak transcription	NH-A	brain
38	chr1:86842000-86845000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:86842000-86845000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:86842000-86846200	Weak transcription	NHDF-Ad	bronchial
41	chr1:86842200-86844400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:86842200-86845000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:86842200-86847000	Weak transcription	HUVEC	blood vessel
44	chr1:86842400-86843400	Strong transcription	Rectal Smooth Muscle	rectum
45	chr1:86842400-86843600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr1:86842400-86843600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
47	chr1:86842400-86843800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr1:86842400-86843800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:86842400-86844400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:86842400-86844400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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