Variant report

Variant	rs61752023
Chromosome Location	chr8:11142529-11142530
allele	C/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	chr8:11141724-11142717	GM12878	blood:	n/a	n/a
2	CTCF	chr8:11142520-11142670	WERI-Rb-1	eye:	n/a	n/a
3	POLR2A	chr8:11141569-11142929	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr8:11141588-11142683	GM15510	blood:	n/a	n/a
5	POLR2A	chr8:11141839-11142614	GM12891	blood:	n/a	n/a
6	EBF1	chr8:11142423-11142753	GM12878	blood:	n/a	n/a
7	YY1	chr8:11141666-11142784	GM12892	blood:	n/a	chr8:11142384-11142393 chr8:11142378-11142392 chr8:11142209-11142223 chr8:11142208-11142217
8	POLR2A	chr8:11141564-11142698	HUVEC	blood vessel:	n/a	n/a
9	YY1	chr8:11142176-11142703	GM12878	blood:	n/a	chr8:11142384-11142393 chr8:11142378-11142392 chr8:11142209-11142223 chr8:11142208-11142217
10	CTCF	chr8:11142500-11142650	K562	blood:	n/a	n/a
11	POLR2A	chr8:11141714-11142588	GM12878	blood:	n/a	n/a
12	HCFC1	chr8:11141536-11142757	K562	blood:	n/a	n/a
13	POLR2A	chr8:11141398-11142743	PBDE	blood:	n/a	n/a
14	MXI1	chr8:11141696-11142712	HepG2	liver:	n/a	n/a
15	CHD2	chr8:11141681-11142775	Hela-S3	cervix:	n/a	n/a
16	RCOR1	chr8:11141703-11142803	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr8:11141462-11142794	GM12892	blood:	n/a	n/a
18	GTF2F1	chr8:11141474-11142804	Hela-S3	cervix:	n/a	n/a
19	YY1	chr8:11142276-11142795	GM12878	blood:	n/a	chr8:11142384-11142393 chr8:11142378-11142392
20	STAT5A	chr8:11141491-11142720	GM12878	blood:	n/a	chr8:11141568-11141580
21	TAF1	chr8:11141612-11142607	K562	blood:	n/a	n/a
22	POLR2A	chr8:11141672-11142673	NB4	blood:	n/a	n/a
23	ZNF263	chr8:11141653-11142938	HEK293-T-REx	kidney:	n/a	chr8:11141737-11141746
24	ELF1	chr8:11141503-11142592	SK-N-SH	brain:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141917-11141926
25	POLR2A	chr8:11141649-11142602	K562	blood:	n/a	n/a
26	RUNX3	chr8:11141518-11142894	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:11141641-11142530	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr8:11141098-11142824	MCF-7	breast:	n/a	n/a
29	PML	chr8:11141624-11142598	K562	blood:	n/a	n/a
30	ELF1	chr8:11141726-11142862	GM12878	blood:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141917-11141926
31	POLR2A	chr8:11141494-11142838	PFSK-1	brain:	n/a	n/a
32	MYC	chr8:11141856-11142603	MCF-7	breast:	n/a	n/a
33	ZBTB7A	chr8:11141733-11142833	ECC-1	luminal epithelium:	n/a	chr8:11142242-11142253
34	MAZ	chr8:11141568-11143268	IMR90	lung:	n/a	n/a
35	RCOR1	chr8:11141524-11142625	GM12878	blood:	n/a	n/a
36	YY1	chr8:11141780-11142750	K562	blood:	n/a	chr8:11142384-11142393 chr8:11142378-11142392 chr8:11142209-11142223 chr8:11142208-11142217
37	CTCF	chr8:11141799-11142649	IMR90	lung:	n/a	n/a
38	IRF1	chr8:11141674-11142557	K562	blood:	n/a	n/a
39	ZEB1	chr8:11142134-11142710	GM12878	blood:	n/a	n/a
40	BCL3	chr8:11141532-11142543	A549	lung:	n/a	chr8:11141762-11141769 chr8:11142378-11142391 chr8:11142210-11142223 chr8:11141990-11141999 chr8:11141903-11141912 chr8:11142211-11142224
41	POLR2A	chr8:11141668-11142633	HL-60	blood:	n/a	n/a
42	CTCF	chr8:11142520-11142670	HRPEpiC	eye:	n/a	n/a
43	POLR2A	chr8:11141669-11142547	HEK293	kidney:	n/a	n/a
44	TAF1	chr8:11141556-11142576	GM12878	blood:	n/a	n/a
45	TAF1	chr8:11141562-11142690	H1-hESC	embryonic stem cell:	n/a	n/a
46	GATA1	chr8:11141565-11142697	PBDE	blood:	n/a	chr8:11141760-11141772 chr8:11141758-11141774
47	POLR2A	chr8:11141570-11142724	SK-N-SH	brain:	n/a	n/a
48	MAX	chr8:11141448-11142833	A549	lung:	n/a	n/a
49	POLR2A	chr8:11141601-11142662	HCT-116	colon:	n/a	n/a
50	ETS1	chr8:11141661-11142570	K562	blood:	n/a	chr8:11141905-11141914 chr8:11141903-11141912 chr8:11141990-11141999 chr8:11141903-11141912 chr8:11141900-11141916 chr8:11141988-11141998 chr8:11141903-11141912 chr8:11141901-11141911 chr8:11141959-11141966 chr8:11141903-11141912 chr8:11141902-11141915 chr8:11142075-11142088 chr8:11141948-11141964

No.	Distal block	Cell Line	Cell type
1	chr17:78120575..78121227-chr8:11141847..11142779,2	HCT-116	colon:
2	chr8:11141582..11144222-chr8:11248890..11251574,2	K562	blood:
3	chr8:11141452..11143588-chr8:11203845..11206287,2	MCF-7	breast:
4	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249316	TF binding region
MTMR9	TF binding region
ENSG00000141543	Chromatin interaction
ENSG00000199368	Chromatin interaction
ENSG00000255020	Chromatin interaction
ENSG00000154316	Chromatin interaction
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12115113	1.00[AMR][1000 genomes]
rs12115121	1.00[AMR][1000 genomes]
rs17153216	1.00[AMR][1000 genomes]
rs2117617	1.00[AMR][1000 genomes]
rs4483111	1.00[AMR][1000 genomes]
rs57332847	1.00[AMR][1000 genomes]
rs58758812	1.00[AMR][1000 genomes]
rs58797482	1.00[AMR][1000 genomes]
rs59310177	1.00[AMR][1000 genomes]
rs60959401	1.00[AMR][1000 genomes]
rs6985292	1.00[AMR][1000 genomes]
rs73663108	1.00[AMR][1000 genomes]
rs73665042	1.00[AMR][1000 genomes]
rs73665043	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73665044	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7816547	1.00[AMR][1000 genomes]
rs7833051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833217	0.90[AFR][1000 genomes];1.00[AMR][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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr8:11141000-11142600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:11141000-11143200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:11141000-11143200	Active TSS	NHLF	lung
4	chr8:11141000-11143400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:11141000-11143400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:11141000-11143400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:11141000-11143400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:11141000-11143400	Active TSS	Psoas Muscle	Psoas
9	chr8:11141000-11143600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:11141200-11142800	Active TSS	Fetal Kidney	kidney
11	chr8:11141200-11143000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:11141200-11143000	Active TSS	Brain Anterior Caudate	brain
13	chr8:11141200-11143000	Active TSS	Fetal Intestine Large	intestine
14	chr8:11141200-11143000	Active TSS	Fetal Intestine Small	intestine
15	chr8:11141200-11143200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr8:11141200-11143200	Active TSS	Brain Angular Gyrus	brain
17	chr8:11141200-11143200	Active TSS	A549	lung
18	chr8:11141200-11143200	Active TSS	NHDF-Ad	bronchial
19	chr8:11141200-11143400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr8:11141200-11143400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr8:11141200-11143400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr8:11141200-11143400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:11141200-11143400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:11141200-11143400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:11141200-11143600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11141200-11143600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:11141200-11143600	Active TSS	Right Atrium	heart
28	chr8:11141400-11142800	Active TSS	Fetal Brain Female	brain
29	chr8:11141400-11142800	Active TSS	Spleen	Spleen
30	chr8:11141400-11143000	Active TSS	Gastric	stomach
31	chr8:11141400-11143000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr8:11141400-11143200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:11141400-11143200	Active TSS	Aorta	Aorta
34	chr8:11141400-11143200	Active TSS	K562	blood
35	chr8:11141400-11143400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:11141400-11143400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:11141400-11143600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:11141600-11142600	Active TSS	Primary T cells from cord blood	blood
39	chr8:11141600-11142600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:11141600-11142800	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr8:11141600-11142800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:11141600-11142800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:11141600-11142800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:11141600-11142800	Active TSS	Fetal Heart	heart
45	chr8:11141600-11142800	Active TSS	Fetal Lung	lung
46	chr8:11141600-11143000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:11141600-11143000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:11141600-11143000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:11141600-11143000	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:11141600-11143000	Active TSS	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links