Variant report

Variant	rs72988613
Chromosome Location	chr11:107436564-107436565
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	POLR2A	chr11:107435710-107436620	ProgFib	skin:	n/a	n/a
2	POLR2A	chr11:107436171-107436596	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:107436540-107436690	BJ	skin:	n/a	n/a
4	ELF1	chr11:107435970-107436585	K562	blood:	n/a	chr11:107436270-107436281 chr11:107436269-107436282 chr11:107436252-107436265
5	MAZ	chr11:107435847-107437019	K562	blood:	n/a	chr11:107436094-107436105
6	ELF1	chr11:107435768-107436600	GM12878	blood:	n/a	chr11:107436270-107436281 chr11:107436269-107436282 chr11:107436252-107436265
7	ZEB1	chr11:107436248-107436614	GM12878	blood:	n/a	n/a
8	HA-E2F1	chr11:107435821-107436650	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:107435831-107436752	NB4	blood:	n/a	n/a
10	EP300	chr11:107435790-107437681	K562	blood:	n/a	chr11:107436068-107436078
11	MTA3	chr11:107435695-107436726	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:107435959-107436713	Hela-S3	cervix:	n/a	n/a
13	ELF1	chr11:107435774-107436865	HCT-116	colon:	n/a	chr11:107436270-107436281 chr11:107436269-107436282 chr11:107436252-107436265
14	CBX3	chr11:107436073-107437001	K562	blood:	n/a	n/a
15	WRNIP1	chr11:107435650-107436706	GM12878	blood:	n/a	n/a
16	RUNX3	chr11:107435815-107436663	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:107435851-107436647	K562	blood:	n/a	n/a
18	SIX5	chr11:107436198-107436682	K562	blood:	n/a	chr11:107436462-107436476 chr11:107436466-107436475 chr11:107436464-107436473
19	ZNF384	chr11:107435924-107436593	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:107435867-107436742	GM18951	blood:	n/a	n/a
21	TAF1	chr11:107435843-107436689	H1-hESC	embryonic stem cell:	n/a	n/a
22	ETS1	chr11:107435913-107436738	K562	blood:	n/a	chr11:107436274-107436285 chr11:107436462-107436475
23	TBP	chr11:107435955-107436579	HepG2	liver:	n/a	n/a
24	YY1	chr11:107435791-107436780	H1-hESC	embryonic stem cell:	n/a	chr11:107436441-107436451 chr11:107436432-107436446 chr11:107436441-107436463 chr11:107436444-107436452 chr11:107436439-107436458
25	MYC	chr11:107435635-107436978	K562	blood:	n/a	chr11:107436094-107436105 chr11:107436120-107436130
26	MAX	chr11:107435670-107436662	Hela-S3	cervix:	n/a	chr11:107436094-107436105 chr11:107436120-107436130
27	POLR2A	chr11:107436294-107436588	HepG2	liver:	n/a	n/a
28	IRF1	chr11:107436497-107436913	K562	blood:	n/a	n/a
29	FOS	chr11:107436287-107436985	HUVEC	blood vessel:	n/a	n/a
30	MAX	chr11:107435666-107436737	NB4	blood:	n/a	chr11:107436094-107436105 chr11:107436120-107436130
31	SP4	chr11:107436264-107436619	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr11:107436178-107436595	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr11:107436236-107436660	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr11:107435305-107436898	SK-N-SH	brain:	n/a	n/a
35	ETS1	chr11:107436075-107436713	GM12878	blood:	n/a	chr11:107436274-107436285 chr11:107436462-107436475
36	MAX	chr11:107435618-107436776	ECC-1	luminal epithelium:	n/a	chr11:107436094-107436105 chr11:107436120-107436130
37	POLR2A	chr11:107436088-107436736	HepG2	liver:	n/a	n/a
38	MAZ	chr11:107435958-107436665	GM12878	blood:	n/a	chr11:107436094-107436105
39	YY1	chr11:107435884-107436723	ECC-1	luminal epithelium:	n/a	chr11:107436441-107436451 chr11:107436432-107436446 chr11:107436441-107436463 chr11:107436444-107436452 chr11:107436439-107436458
40	EP300	chr11:107435721-107436694	GM12878	blood:	n/a	chr11:107436068-107436078
41	TEAD4	chr11:107436272-107437094	K562	blood:	n/a	n/a
42	POLR2A	chr11:107435716-107436754	HL-60	blood:	n/a	n/a
43	CEBPD	chr11:107436225-107436565	HepG2	liver:	n/a	n/a
44	CTCF	chr11:107436440-107436590	HCPEpiC	choroid plexus:	n/a	n/a
45	SIN3AK20	chr11:107435774-107436633	SK-N-SH	brain:	n/a	n/a
46	GABPA	chr11:107436109-107436576	K562	blood:	n/a	n/a
47	RELA	chr11:107435876-107436873	GM19099	blood:	n/a	n/a
48	SPI1	chr11:107435815-107436787	GM12878	blood:	n/a	chr11:107436273-107436280 chr11:107436269-107436282 chr11:107436272-107436281
49	POLR2A	chr11:107435860-107436633	K562	blood:	n/a	n/a
50	YY1	chr11:107435875-107436629	HCT-116	colon:	n/a	chr11:107436441-107436451 chr11:107436432-107436446 chr11:107436441-107436463 chr11:107436444-107436452 chr11:107436439-107436458

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107436549-107436599	GM12878	blood:	n/a
2	chr11:107436549-107436599	HRCEpiC	kidney:	n/a
3	chr11:107436549-107436599	T-47D	breast:	n/a
4	chr11:107436549-107436599	MCF-7	breast:	n/a
5	chr11:107436549-107436599	Jurkat	blood:	n/a
6	chr11:107436549-107436599	BJ	skin:	n/a
7	chr11:107436549-107436599	HEEpiC	esophagus:	n/a
8	chr11:107436549-107436599	NT2-D1	testis:	n/a
9	chr11:107436549-107436599	HNPCEpiC	eye:	n/a
10	chr11:107436549-107436599	Hepatocyte	liver:	n/a
11	chr11:107436549-107436599	HEK293	kidney:	embryo
12	chr11:107436549-107436599	NHBE	bronchial:	n/a
13	chr11:107436549-107436599	PANC-1	pancreas:	n/a
14	chr11:107436549-107436599	SK-N-SH_RA	brain:	n/a
15	chr11:107436549-107436599	HL-60	blood:	n/a
16	chr11:107436549-107436599	PrEC	prostate:	n/a
17	chr11:107436549-107436599	GM12891	blood:	n/a
18	chr11:107436549-107436599	IMR90	lung:	fetal
19	chr11:107436549-107436599	HCT-116	colon:	n/a
20	chr11:107436549-107436599	ECC-1	luminal epithelium:	n/a
21	chr11:107436549-107436599	AG09319	gingival:	n/a
22	chr11:107436549-107436599	Caco-2	colon:	n/a
23	chr11:107436549-107436599	Hela-S3	cervix:	n/a
24	chr11:107436549-107436599	CMK	blood:	n/a
25	chr11:107436549-107436599	AG10803	skin:	n/a
26	chr11:107436549-107436599	A549	lung:	n/a
27	chr11:107436549-107436599	RPTEC	kidney:	n/a
28	chr11:107436549-107436599	GM12892	blood:	n/a
29	chr11:107436549-107436599	HMEC	breast:	n/a
30	chr11:107436549-107436599	U87	brain:	n/a
31	chr11:107436549-107436599	NHDF-neo	bronchial:	n/a
32	chr11:107436549-107436599	ovcar-3	ovarian:	n/a
33	chr11:107436549-107436599	HRPEpiC	eye:	n/a
34	chr11:107436549-107436599	AG04449	skin:	fetal
35	chr11:107436549-107436599	LNCaP	prostate:	n/a
36	chr11:107436549-107436599	GM19239	blood:	n/a
37	chr11:107436549-107436599	HUVEC	blood vessel:	n/a
38	chr11:107436549-107436599	HepG2	liver:	n/a
39	chr11:107436549-107436599	HAEpiC	amniotic membrane:	n/a
40	chr11:107436549-107436599	BE2_C	brain:	n/a
41	chr11:107436549-107436599	HCF	heart:	n/a
42	chr11:107436549-107436599	ProgFib	skin:	n/a
43	chr11:107436549-107436599	K562	blood:	n/a
44	chr11:107436549-107436599	SKMC	muscle:	n/a
45	chr11:107436549-107436599	AG09309	skin:	n/a
46	chr11:107436549-107436599	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:107436549-107436599	PFSK-1	brain:	n/a
48	chr11:107436549-107436599	HCM	heart:	n/a
49	chr11:107436549-107436599	HIPEpiC	eye:	n/a
50	chr11:107436549-107436599	HRE	kidney:	n/a

Variant related genes	Relation type
ALKBH8	TF binding region
ALKBH8	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61749473	1.00[ASN][1000 genomes]
rs72990739	1.00[ASN][1000 genomes]
rs72996177	1.00[AFR][1000 genomes];1.00[ASN][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	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107434600-107437000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:107434800-107437000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:107435000-107436600	Active TSS	K562	blood
4	chr11:107435000-107436800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:107435000-107436800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:107435000-107436800	Active TSS	Fetal Brain Male	brain
7	chr11:107435000-107437000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:107435000-107437000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:107435000-107437000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:107435000-107437000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:107435000-107437200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:107435000-107437200	Active TSS	Brain Anterior Caudate	brain
13	chr11:107435200-107436800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:107435200-107436800	Active TSS	GM12878-XiMat	blood
15	chr11:107435200-107437000	Active TSS	Brain Cingulate Gyrus	brain
16	chr11:107435200-107437000	Active TSS	NHDF-Ad	bronchial
17	chr11:107435400-107436800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:107435400-107436800	Active TSS	Thymus	Thymus
19	chr11:107435400-107437000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr11:107435400-107437000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:107435400-107437000	Active TSS	Brain Germinal Matrix	brain
22	chr11:107435400-107437000	Active TSS	Fetal Brain Female	brain
23	chr11:107435400-107437000	Active TSS	Psoas Muscle	Psoas
24	chr11:107435400-107437000	Active TSS	A549	lung
25	chr11:107435400-107437200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr11:107435400-107437400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:107435400-107437800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:107435600-107436600	Active TSS	Fetal Muscle Leg	muscle
29	chr11:107435600-107436600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr11:107435600-107436600	Active TSS	NHLF	lung
31	chr11:107435600-107436800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:107435600-107436800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:107435600-107436800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:107435600-107436800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:107435600-107436800	Active TSS	Aorta	Aorta
36	chr11:107435600-107436800	Active TSS	Fetal Intestine Large	intestine
37	chr11:107435600-107436800	Active TSS	Lung	lung
38	chr11:107435600-107436800	Active TSS	Ovary	ovary
39	chr11:107435600-107436800	Active TSS	Pancreas	Pancrea
40	chr11:107435600-107437000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:107435600-107437000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:107435600-107437000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr11:107435600-107437000	Active TSS	Fetal Kidney	kidney
44	chr11:107435600-107437000	Active TSS	Fetal Muscle Trunk	muscle
45	chr11:107435600-107437000	Active TSS	Right Ventricle	heart
46	chr11:107435600-107437200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr11:107435600-107437400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:107435600-107437400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:107435600-107437400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr11:107435800-107436600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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