Variant report

Variant	rs218910
Chromosome Location	chr8:90741746-90741747
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr8:90741080-90741851	K562	blood:	n/a	n/a
2	POLR2A	chr8:90741167-90741939	K562	blood:	n/a	n/a
3	PAX5	chr8:90741412-90741815	GM12878	blood:	n/a	n/a
4	RUNX3	chr8:90741138-90741821	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:90741700-90741849	ProgFib	skin:	n/a	n/a
6	GATA1	chr8:90740790-90741746	PBDE	blood:	n/a	chr8:90741067-90741074 chr8:90741067-90741074 chr8:90741062-90741078 chr8:90741067-90741074
7	POLR2A	chr8:90741651-90741864	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:90741151-90741980	GM12878	blood:	n/a	n/a
9	MTA3	chr8:90741199-90741837	GM12878	blood:	n/a	n/a
10	PML	chr8:90741217-90741751	K562	blood:	n/a	n/a
11	EBF1	chr8:90741164-90741777	GM12878	blood:	n/a	n/a
12	RELA	chr8:90741190-90742754	GM12878	blood:	n/a	chr8:90742262-90742271 chr8:90742262-90742271
13	POLR2A	chr8:90741300-90741803	GM12878	blood:	n/a	n/a
14	ZNF143	chr8:90741319-90741757	GM12878	blood:	n/a	n/a
15	CREB1	chr8:90741234-90741811	GM12878	blood:	n/a	n/a
16	NFIC	chr8:90740962-90741914	GM12878	blood:	n/a	n/a
17	CHD2	chr8:90741247-90741755	GM12878	blood:	n/a	n/a
18	PAX5	chr8:90741571-90741805	GM12892	blood:	n/a	n/a
19	RUNX3	chr8:90741393-90741804	GM12878	blood:	n/a	n/a
20	IRF1	chr8:90741198-90741761	K562	blood:	n/a	n/a
21	NR2F2	chr8:90741217-90741759	K562	blood:	n/a	n/a
22	FOXM1	chr8:90741309-90741888	GM12878	blood:	n/a	n/a
23	BCLAF1	chr8:90741285-90741840	GM12878	blood:	n/a	n/a
24	MAX	chr8:90741345-90741761	GM12878	blood:	n/a	chr8:90741491-90741500
25	ZNF384	chr8:90741171-90741856	K562	blood:	n/a	n/a
26	CREB1	chr8:90741114-90741774	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:90741161-90741801	Raji	blood:	n/a	n/a
28	ATF2	chr8:90741207-90741815	GM12878	blood:	n/a	n/a
29	NFATC1	chr8:90741272-90741757	GM12878	blood:	n/a	n/a
30	RCOR1	chr8:90741056-90741764	K562	blood:	n/a	n/a
31	TRIM28	chr8:90741224-90741762	K562	blood:	n/a	n/a
32	POLR2A	chr8:90740941-90742723	GM12878	blood:	n/a	n/a
33	NFATC1	chr8:90741070-90741798	GM12878	blood:	n/a	n/a
34	RELA	chr8:90741226-90742637	GM12891	blood:	n/a	chr8:90742262-90742271 chr8:90742262-90742271
35	TBP	chr8:90740796-90741763	GM12878	blood:	n/a	n/a
36	PAX5	chr8:90741359-90741883	GM12878	blood:	n/a	n/a
37	PAX5	chr8:90741317-90741849	GM12878	blood:	n/a	n/a
38	TBL1XR1	chr8:90741215-90741811	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:90741686-90741754	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:90741204-90742014	GM12892	blood:	n/a	n/a
41	MYC	chr8:90740924-90741785	K562	blood:	n/a	chr8:90741491-90741500
42	ZNF384	chr8:90741138-90742153	GM12878	blood:	n/a	n/a
43	ATF2	chr8:90741233-90741894	GM12878	blood:	n/a	n/a
44	YY1	chr8:90741170-90741807	GM12892	blood:	n/a	chr8:90741320-90741330 chr8:90741308-90741330 chr8:90741318-90741330
45	TAF1	chr8:90741452-90741802	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:90741677-90741863	GM12878	blood:	n/a	n/a
47	NFIC	chr8:90741294-90741839	GM12878	blood:	n/a	n/a
48	BHLHE40	chr8:90741301-90741779	GM12878	blood:	n/a	n/a
49	EP300	chr8:90741176-90741790	GM12878	blood:	n/a	n/a
50	POLR2A	chr8:90741190-90742013	GM12892	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90740620..90742197-chr8:90743722..90745998,2	K562	blood:
2	chr8:90741497..90743886-chr8:90913667..90916372,2	MCF-7	breast:
3	chr8:90740621..90743258-chr8:90763138..90765800,2	K562	blood:
4	chr8:90741234..90743922-chr8:90995229..90998004,3	MCF-7	breast:
5	chr8:90739799..90743850-chr8:90767861..90774313,11	K562	blood:
6	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
7	chr8:90732925..90737686-chr8:90738407..90742912,6	K562	blood:
8	chr8:90740411..90742010-chr8:90994882..90996914,2	K562	blood:
9	chr8:90737934..90739593-chr8:90739830..90742161,2	K562	blood:
10	chr8:90740691..90742554-chr8:91012981..91015197,3	MCF-7	breast:
11	chr8:90739799..90744088-chr8:90767861..90774313,10	K562	blood:
12	chr8:90740510..90743977-chr8:90993488..90997809,6	K562	blood:
13	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
14	chr8:90736651..90739528-chr8:90739958..90742509,3	MCF-7	breast:
15	chr8:90734630..90736246-chr8:90739978..90742912,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1003843	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10095743	0.88[EUR][1000 genomes]
rs10112852	0.88[EUR][1000 genomes]
rs13252013	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13252917	0.88[EUR][1000 genomes]
rs13259882	0.88[EUR][1000 genomes]
rs13279023	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218905	0.85[EUR][1000 genomes]
rs218907	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218908	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218909	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs218913	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218914	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218925	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218929	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218932	0.88[EUR][1000 genomes]
rs218934	0.88[EUR][1000 genomes]
rs218936	0.88[EUR][1000 genomes]
rs2644021	0.88[EUR][1000 genomes]
rs2644033	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2735870	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2735871	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2735873	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2735878	0.88[EUR][1000 genomes]
rs383592	0.84[AMR][1000 genomes]
rs385524	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs39499	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs39500	0.82[EUR][1000 genomes]
rs39503	0.82[EUR][1000 genomes]
rs39504	0.82[EUR][1000 genomes]
rs39505	0.82[EUR][1000 genomes]
rs39506	0.82[EUR][1000 genomes]
rs39761	0.82[EUR][1000 genomes]
rs40246	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402886	0.82[EUR][1000 genomes]
rs40452	0.82[EUR][1000 genomes]
rs40544	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs40545	0.82[EUR][1000 genomes]
rs405734	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs419754	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs42490	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs431264	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs43134	0.82[EUR][1000 genomes]
rs43225	0.82[EUR][1000 genomes]
rs447618	0.82[EUR][1000 genomes]
rs454441	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs51331	0.84[AMR][1000 genomes]
rs6470366	0.88[EUR][1000 genomes]
rs6992985	0.88[EUR][1000 genomes]
rs6993133	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs218910	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90717800-90747800	Weak transcription	Ovary	ovary
3	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
4	chr8:90738600-90742400	Weak transcription	Aorta	Aorta
5	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:90739200-90744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:90739200-90748800	Weak transcription	A549	lung
10	chr8:90739400-90745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:90739600-90742000	Weak transcription	HMEC	breast
12	chr8:90739600-90743000	Weak transcription	HSMM	muscle
13	chr8:90740000-90742600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:90740400-90741800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:90740400-90741800	Enhancers	NHDF-Ad	bronchial
16	chr8:90740400-90742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:90740400-90742600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:90740400-90742800	Enhancers	Fetal Intestine Large	intestine
19	chr8:90740600-90741800	Enhancers	NHEK	skin
20	chr8:90740600-90742200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:90740800-90741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:90740800-90742000	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:90740800-90742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:90740800-90742200	Enhancers	Primary B cells from cord blood	blood
25	chr8:90740800-90742800	Enhancers	Stomach Mucosa	stomach
26	chr8:90741000-90741800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:90741000-90741800	Enhancers	NHLF	lung
28	chr8:90741000-90742600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:90741000-90745200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:90741200-90741800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr8:90741200-90741800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr8:90741200-90741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:90741200-90741800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr8:90741200-90742000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr8:90741200-90742000	Enhancers	HUVEC	blood vessel
36	chr8:90741200-90742200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:90741200-90742600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:90741200-90742600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:90741400-90741800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:90741400-90742000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:90741400-90742000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:90741400-90742000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:90741400-90742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:90741400-90742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:90741400-90742400	Active TSS	GM12878-XiMat	blood
46	chr8:90741400-90742400	Active TSS	K562	blood
47	chr8:90741400-90742600	Active TSS	Psoas Muscle	Psoas
48	chr8:90741400-90742800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:90741400-90742800	Active TSS	Adipose Nuclei	Adipose
50	chr8:90741400-90742800	Active TSS	Duodenum Mucosa	Duodenum

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