Variant report

Variant	rs73198982
Chromosome Location	chr8:11057313-11057314
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:11056460-11058146	H1-hESC	embryonic stem cell:	n/a	chr8:11058055-11058065
2	POLR2A	chr8:11056632-11059531	GM12891	blood:	n/a	n/a
3	RAD21	chr8:11055983-11059769	SK-N-SH	brain:	n/a	chr8:11059259-11059271 chr8:11057745-11057758 chr8:11057624-11057637
4	POLR2A	chr8:11056829-11059456	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:11056995-11059519	GM18526	blood:	n/a	n/a
6	MXI1	chr8:11057075-11057955	GM12878	blood:	n/a	n/a
7	CHD1	chr8:11057241-11057690	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:11056923-11059539	Raji	blood:	n/a	n/a
9	POLR2A	chr8:11056002-11059542	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr8:11057252-11057460	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:11056920-11059510	GM18951	blood:	n/a	n/a
12	POLR2A	chr8:11057074-11059521	GM19193	blood:	n/a	n/a
13	SMC3	chr8:11056867-11059706	SK-N-SH	brain:	n/a	chr8:11057551-11057561
14	POLR2A	chr8:11056671-11059649	H1-hESC	embryonic stem cell:	n/a	n/a
15	MTA3	chr8:11056891-11058597	GM12878	blood:	n/a	n/a
16	REST	chr8:11057136-11059780	H1-neurons	neurons:	n/a	chr8:11059120-11059133 chr8:11059348-11059358
17	POLR2A	chr8:11056895-11059511	GM18505	blood:	n/a	n/a
18	POLR2A	chr8:11057143-11059501	GM15510	blood:	n/a	n/a
19	BCLAF1	chr8:11057004-11057569	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:11057015-11059510	GM19099	blood:	n/a	n/a
21	SIN3A	chr8:11057155-11058816	H1-hESC	embryonic stem cell:	n/a	n/a
22	RUNX3	chr8:11057008-11057443	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:11056999-11059532	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11057265-11057315	NH-A	brain:	n/a
2	chr8:11057265-11057315	HCPEpiC	choroid plexus:	n/a
3	chr8:11057265-11057315	BJ	skin:	n/a
4	chr8:11057265-11057315	HEEpiC	esophagus:	n/a
5	chr8:11057265-11057315	PFSK-1	brain:	n/a
6	chr8:11057265-11057315	AG09319	gingival:	n/a
7	chr8:11057265-11057315	CMK	blood:	n/a
8	chr8:11057265-11057315	AG10803	skin:	n/a
9	chr8:11057265-11057315	GM12891	blood:	n/a
10	chr8:11057265-11057315	HCF	heart:	n/a
11	chr8:11057265-11057315	AG04449	skin:	fetal
12	chr8:11057265-11057315	RPTEC	kidney:	n/a
13	chr8:11057265-11057315	NHDF-neo	bronchial:	n/a
14	chr8:11057265-11057315	NB4	blood:	n/a
15	chr8:11057265-11057315	GM06990	blood:	n/a
16	chr8:11057265-11057315	U87	brain:	n/a
17	chr8:11057265-11057315	HCT-116	colon:	n/a
18	chr8:11057265-11057315	HEK293	kidney:	embryo
19	chr8:11057265-11057315	GM12892	blood:	n/a
20	chr8:11057265-11057315	MCF10A-Er-Src	breast:	n/a
21	chr8:11057265-11057315	ovcar-3	ovarian:	n/a
22	chr8:11057265-11057315	HRE	kidney:	n/a
23	chr8:11057265-11057315	HPAEpiC	pulmonary alveolar:	n/a
24	chr8:11057265-11057315	AG04450	lung:	fetal
25	chr8:11057265-11057315	ProgFib	skin:	n/a
26	chr8:11057265-11057315	AG09309	skin:	n/a
27	chr8:11057265-11057315	HRPEpiC	eye:	n/a
28	chr8:11057265-11057315	PANC-1	pancreas:	n/a
29	chr8:11057265-11057315	MCF-7	breast:	n/a
30	chr8:11057265-11057315	BE2_C	brain:	n/a
31	chr8:11057265-11057315	NHBE	bronchial:	n/a
32	chr8:11057265-11057315	Caco-2	colon:	n/a
33	chr8:11057265-11057315	SK-N-SH	brain:	n/a
34	chr8:11057265-11057315	GM12878	blood:	n/a
35	chr8:11057265-11057315	A549	lung:	n/a
36	chr8:11057265-11057315	HNPCEpiC	eye:	n/a
37	chr8:11057265-11057315	SAEC	small airway:	n/a
38	chr8:11057265-11057315	HCM	heart:	n/a
39	chr8:11057265-11057315	NT2-D1	testis:	n/a
40	chr8:11057265-11057315	HRCEpiC	kidney:	n/a
41	chr8:11057265-11057315	T-47D	breast:	n/a
42	chr8:11057265-11057315	GM19239	blood:	n/a
43	chr8:11057265-11057315	SK-N-MC	brain:	n/a
44	chr8:11057265-11057315	Hepatocyte	liver:	n/a
45	chr8:11057265-11057315	HepG2	liver:	n/a
46	chr8:11057265-11057315	PrEC	prostate:	n/a
47	chr8:11057265-11057315	H1-hESC	embryonic stem cell:	embryo
48	chr8:11057265-11057315	HMEC	breast:	n/a
49	chr8:11057265-11057315	HUVEC	blood vessel:	n/a
50	chr8:11057265-11057315	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11053117..11055085-chr8:11056263..11058043,2	K562	blood:
2	chr8:11042275..11044106-chr8:11054861..11057806,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270076	TF binding region
ENSG00000270076	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10092793	1.00[ASN][1000 genomes]
rs10283160	1.00[ASN][1000 genomes]
rs17725044	1.00[ASN][1000 genomes]
rs2409728	0.83[EUR][1000 genomes]
rs2409744	1.00[ASN][1000 genomes]
rs2898264	1.00[ASN][1000 genomes]
rs3021496	1.00[ASN][1000 genomes]
rs4310164	1.00[ASN][1000 genomes]
rs4841512	1.00[ASN][1000 genomes]
rs57474767	1.00[ASN][1000 genomes]
rs67633260	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980506	1.00[ASN][1000 genomes]
rs6981724	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982013	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992269	1.00[ASN][1000 genomes]
rs6999875	1.00[ASN][1000 genomes]
rs7002523	1.00[ASN][1000 genomes]
rs7008855	1.00[ASN][1000 genomes]
rs7017355	1.00[ASN][1000 genomes]
rs7017362	1.00[ASN][1000 genomes]
rs73198985	1.00[ASN][1000 genomes]
rs73530582	1.00[ASN][1000 genomes]
rs7822804	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827026	1.00[ASN][1000 genomes]
rs7831890	1.00[ASN][1000 genomes]
rs7837031	1.00[ASN][1000 genomes]
rs9987122	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11054800-11059600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:11055000-11057800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:11055400-11057600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr8:11055400-11059400	Active TSS	GM12878-XiMat	blood
5	chr8:11055600-11059400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:11055800-11057400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr8:11055800-11057800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr8:11055800-11059400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:11055800-11059600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:11056000-11057400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:11056000-11057800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr8:11056000-11059600	Active TSS	Brain Anterior Caudate	brain
13	chr8:11056000-11059800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:11056200-11057400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:11056200-11057400	Active TSS	HSMM	muscle
16	chr8:11056200-11057400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr8:11056200-11057600	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr8:11056200-11057600	Flanking Active TSS	NHEK	skin
19	chr8:11056200-11057800	Flanking Active TSS	HUVEC	blood vessel
20	chr8:11056200-11059400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr8:11056200-11059400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:11056200-11059600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:11056200-11059600	Active TSS	Brain Angular Gyrus	brain
24	chr8:11056200-11059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:11056200-11059800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:11056200-11059800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:11056400-11057400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:11056400-11057400	Enhancers	Primary B cells from cord blood	blood
29	chr8:11056400-11057600	Enhancers	Small Intestine	intestine
30	chr8:11056400-11057800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:11056400-11058600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:11056400-11059400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:11056400-11059400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:11056400-11059600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:11056600-11057400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:11056600-11057400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:11056600-11057400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:11056600-11057600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:11056600-11057600	Flanking Active TSS	HMEC	breast
40	chr8:11056600-11057600	Flanking Active TSS	NH-A	brain
41	chr8:11056600-11058200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:11056600-11058200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr8:11056600-11058400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr8:11056600-11059600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:11056600-11059800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:11056600-11059800	Bivalent/Poised TSS	Osteobl	bone
47	chr8:11056800-11057400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:11056800-11057400	Flanking Active TSS	Fetal Brain Female	brain
49	chr8:11056800-11057600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:11056800-11057600	Active TSS	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links