Variant report

Variant	rs72667206
Chromosome Location	chr8:103909952-103909953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:103909918-103910770	T-47D	breast:	n/a	chr8:103910139-103910160 chr8:103910144-103910154 chr8:103910144-103910153 chr8:103910135-103910152

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:103909930-103909980	ECC-1	luminal epithelium:	n/a
2	chr8:103909930-103909980	NHDF-neo	bronchial:	n/a
3	chr8:103909930-103909980	BE2_C	brain:	n/a
4	chr8:103909930-103909980	AG09319	gingival:	n/a
5	chr8:103909930-103909980	LNCaP	prostate:	n/a
6	chr8:103909930-103909980	NHBE	bronchial:	n/a
7	chr8:103909930-103909980	NT2-D1	testis:	n/a
8	chr8:103909930-103909980	HCPEpiC	choroid plexus:	n/a
9	chr8:103909930-103909980	AoSMC	blood vessel:	n/a
10	chr8:103909930-103909980	HepG2	liver:	n/a
11	chr8:103909930-103909980	ovcar-3	ovarian:	n/a
12	chr8:103909930-103909980	AG04449	skin:	fetal
13	chr8:103909930-103909980	NB4	blood:	n/a
14	chr8:103909930-103909980	T-47D	breast:	n/a
15	chr8:103909930-103909980	RPTEC	kidney:	n/a
16	chr8:103909930-103909980	GM12892	blood:	n/a
17	chr8:103909930-103909980	HCF	heart:	n/a
18	chr8:103909930-103909980	HL-60	blood:	n/a
19	chr8:103909930-103909980	HPAEpiC	pulmonary alveolar:	n/a
20	chr8:103909930-103909980	SK-N-SH	brain:	n/a
21	chr8:103909930-103909980	HUVEC	blood vessel:	n/a
22	chr8:103909930-103909980	NH-A	brain:	n/a
23	chr8:103909930-103909980	HIPEpiC	eye:	n/a
24	chr8:103909930-103909980	ProgFib	skin:	n/a
25	chr8:103909930-103909980	CMK	blood:	n/a
26	chr8:103909930-103909980	PFSK-1	brain:	n/a
27	chr8:103909930-103909980	GM19239	blood:	n/a
28	chr8:103909930-103909980	U87	brain:	n/a
29	chr8:103909930-103909980	SKMC	muscle:	n/a
30	chr8:103909930-103909980	HEK293	kidney:	embryo
31	chr8:103909930-103909980	HCM	heart:	n/a
32	chr8:103909930-103909980	HRPEpiC	eye:	n/a
33	chr8:103909930-103909980	K562	blood:	n/a
34	chr8:103909930-103909980	HMEC	breast:	n/a
35	chr8:103909930-103909980	GM12878	blood:	n/a
36	chr8:103909930-103909980	AG04450	lung:	fetal
37	chr8:103909930-103909980	Jurkat	blood:	n/a
38	chr8:103909930-103909980	H1-hESC	embryonic stem cell:	embryo
39	chr8:103909930-103909980	PrEC	prostate:	n/a
40	chr8:103909930-103909980	BJ	skin:	n/a
41	chr8:103909930-103909980	HNPCEpiC	eye:	n/a
42	chr8:103909930-103909980	GM12891	blood:	n/a
43	chr8:103909930-103909980	SK-N-SH_RA	brain:	n/a
44	chr8:103909930-103909980	AG10803	skin:	n/a
45	chr8:103909930-103909980	MCF10A-Er-Src	breast:	n/a
46	chr8:103909930-103909980	GM06990	blood:	n/a
47	chr8:103909930-103909980	PANC-1	pancreas:	n/a
48	chr8:103909930-103909980	HCT-116	colon:	n/a
49	chr8:103909930-103909980	AG09309	skin:	n/a
50	chr8:103909930-103909980	IMR90	lung:	fetal

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103909625..103914681-chr8:103915019..103918768,8	MCF-7	breast:
2	chr8:103876013..103877584-chr8:103908300..103910419,2	K562	blood:
3	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
4	chr8:103893102..103894642-chr8:103909185..103910728,2	MCF-7	breast:
5	chr8:103907713..103911822-chr8:103912722..103917770,5	MCF-7	breast:
6	chr8:103874983..103877501-chr8:103909403..103912170,5	MCF-7	breast:

No data

Variant related genes	Relation type
AZIN1	TF binding region
AZIN1	CpG island
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1062365	0.86[EUR][1000 genomes]
rs3758091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295632	0.85[AMR][1000 genomes]
rs60470921	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72667203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667216	0.83[AMR][1000 genomes]
rs72667217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667221	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667224	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667225	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667226	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667231	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667244	0.89[EUR][1000 genomes]
rs72667245	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667258	0.92[AMR][1000 genomes]
rs72667261	0.92[AMR][1000 genomes]
rs72686912	0.86[EUR][1000 genomes]
rs72686914	0.86[EUR][1000 genomes]
rs72686917	0.91[EUR][1000 genomes]
rs72686930	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686931	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686935	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
3	chr8:103896400-103911200	Weak transcription	Primary T cells from cord blood	blood
4	chr8:103899600-103910200	Weak transcription	Thymus	Thymus
5	chr8:103905200-103910800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:103905400-103910800	Enhancers	Placenta	Placenta
7	chr8:103906600-103910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:103907000-103910600	Weak transcription	HSMM	muscle
9	chr8:103907000-103911600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:103907200-103910400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:103907200-103910400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:103907200-103912800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:103907400-103910000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:103907400-103910000	Weak transcription	Liver	Liver
15	chr8:103907400-103910000	Weak transcription	GM12878-XiMat	blood
16	chr8:103907400-103910200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:103907400-103910200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:103907400-103910200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:103907400-103910200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:103907400-103910200	Weak transcription	HSMMtube	muscle
21	chr8:103907400-103910400	Weak transcription	Fetal Heart	heart
22	chr8:103907400-103910600	Weak transcription	Right Ventricle	heart
23	chr8:103907400-103910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:103907400-103910800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:103907400-103911200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:103907400-103915000	Weak transcription	Fetal Stomach	stomach
27	chr8:103907600-103910000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:103907600-103910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:103907600-103910000	Weak transcription	Brain Anterior Caudate	brain
30	chr8:103907600-103910400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:103907600-103910600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
33	chr8:103907800-103910000	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:103907800-103910000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:103907800-103910000	Weak transcription	Brain Substantia Nigra	brain
36	chr8:103907800-103910000	Weak transcription	Stomach Mucosa	stomach
37	chr8:103907800-103910400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:103907800-103910600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:103907800-103911000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
41	chr8:103907800-103922600	Weak transcription	Gastric	stomach
42	chr8:103908000-103910400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:103908000-103913200	Weak transcription	Spleen	Spleen
44	chr8:103908400-103910800	Enhancers	Rectal Smooth Muscle	rectum
45	chr8:103908600-103910400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr8:103908600-103910800	Enhancers	Primary B cells from cord blood	blood
47	chr8:103908600-103911200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:103908800-103910200	Enhancers	Adipose Nuclei	Adipose
49	chr8:103908800-103910400	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:103908800-103911200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links