Variant report

Variant	rs2071019
Chromosome Location	chr11:10476698-10476699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:10476180-10478518	IMR90	lung:	n/a	n/a
2	RELA	chr11:10476480-10476903	GM18526	blood:	n/a	n/a
3	HCFC1	chr11:10476488-10476969	K562	blood:	n/a	n/a
4	MTA3	chr11:10476385-10476997	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:10476424-10476763	A549	lung:	n/a	n/a
6	MXI1	chr11:10476440-10476812	Hela-S3	cervix:	n/a	chr11:10476482-10476491
7	TAF1	chr11:10476399-10476704	K562	blood:	n/a	n/a
8	RCOR1	chr11:10476407-10478075	GM12878	blood:	n/a	n/a
9	YY1	chr11:10476458-10477020	K562	blood:	n/a	chr11:10476728-10476736
10	TEAD4	chr11:10476338-10476891	K562	blood:	n/a	n/a
11	RELA	chr11:10476067-10478371	GM12891	blood:	n/a	n/a
12	HMGN3	chr11:10476443-10477125	K562	blood:	n/a	n/a
13	BHLHE40	chr11:10476353-10478392	K562	blood:	n/a	n/a
14	RELA	chr11:10476246-10478481	GM19099	blood:	n/a	n/a
15	NFIC	chr11:10476426-10476980	GM12878	blood:	n/a	n/a
16	E2F6	chr11:10476529-10478454	K562	blood:	n/a	chr11:10478174-10478183
17	YY1	chr11:10476481-10476963	GM12892	blood:	n/a	chr11:10476728-10476736
18	ZNF384	chr11:10476211-10476777	GM12878	blood:	n/a	chr11:10476322-10476330
19	NFATC1	chr11:10476417-10476909	GM12878	blood:	n/a	n/a
20	BCLAF1	chr11:10476261-10476866	GM12878	blood:	n/a	n/a
21	BCLAF1	chr11:10476196-10476864	K562	blood:	n/a	n/a
22	POLR2A	chr11:10476272-10476878	K562	blood:	n/a	n/a
23	TCF12	chr11:10476150-10477343	A549	lung:	n/a	n/a
24	MAX	chr11:10476252-10478118	A549	lung:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
25	RELA	chr11:10476473-10476969	GM12878	blood:	n/a	n/a
26	FOS	chr11:10476376-10476894	MCF10A-Er-Src	breast:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10476624-10476634
27	POLR2A	chr11:10476302-10478356	GM12878	blood:	n/a	n/a
28	KAP1	chr11:10476402-10476895	U2OS	brain:	n/a	n/a
29	POLR2A	chr11:10476317-10476988	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:10476452-10477060	GM12878	blood:	n/a	n/a
31	ARID3A	chr11:10476349-10476859	K562	blood:	n/a	n/a
32	JUN	chr11:10475959-10478519	K562	blood:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10477854-10477864 chr11:10476624-10476634 chr11:10478179-10478190 chr11:10477748-10477762
33	MAZ	chr11:10476450-10476869	Hela-S3	cervix:	n/a	n/a
34	IRF4	chr11:10476432-10476912	GM12878	blood:	n/a	n/a
35	STAT3	chr11:10476432-10476872	MCF10A-Er-Src	breast:	n/a	n/a
36	GTF2B	chr11:10476494-10476891	K562	blood:	n/a	n/a
37	SP1	chr11:10476411-10476962	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:10476472-10476705	A549	lung:	n/a	n/a
39	GATA1	chr11:10476276-10478557	K562	blood:	n/a	chr11:10477539-10477548 chr11:10477085-10477101 chr11:10478151-10478168
40	FOS	chr11:10476418-10476878	MCF10A-Er-Src	breast:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10476624-10476634
41	HEY1	chr11:10476240-10476911	K562	blood:	n/a	n/a
42	ATF2	chr11:10476297-10476977	GM12878	blood:	n/a	n/a
43	MAX	chr11:10476475-10476983	A549	lung:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
44	NFIC	chr11:10476218-10478049	GM12878	blood:	n/a	n/a
45	TCF12	chr11:10476380-10476861	A549	lung:	n/a	n/a
46	TAF1	chr11:10476387-10476891	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:10476208-10478464	GM12892	blood:	n/a	n/a
48	POLR2A	chr11:10476431-10478456	GM12892	blood:	n/a	n/a
49	TBL1XR1	chr11:10476412-10476794	K562	blood:	n/a	n/a
50	TBP	chr11:10476535-10476951	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:10476662-10476712	ovcar-3	ovarian:	n/a
2	chr11:10476662-10476712	AG04449	skin:	fetal
3	chr11:10476662-10476712	PFSK-1	brain:	n/a
4	chr11:10476662-10476712	Hepatocyte	liver:	n/a
5	chr11:10476662-10476712	Caco-2	colon:	n/a
6	chr11:10476662-10476712	ECC-1	luminal epithelium:	n/a
7	chr11:10476662-10476712	HCPEpiC	choroid plexus:	n/a
8	chr11:10476662-10476712	SK-N-SH_RA	brain:	n/a
9	chr11:10476662-10476712	IMR90	lung:	fetal
10	chr11:10476662-10476712	HCT-116	colon:	n/a
11	chr11:10476662-10476712	AG09309	skin:	n/a
12	chr11:10476662-10476712	SK-N-MC	brain:	n/a
13	chr11:10476662-10476712	NT2-D1	testis:	n/a
14	chr11:10476662-10476712	HUVEC	blood vessel:	n/a
15	chr11:10476662-10476712	GM12891	blood:	n/a
16	chr11:10476662-10476712	HRCEpiC	kidney:	n/a
17	chr11:10476662-10476712	GM12892	blood:	n/a
18	chr11:10476662-10476712	K562	blood:	n/a
19	chr11:10476662-10476712	AG09319	gingival:	n/a
20	chr11:10476662-10476712	SAEC	small airway:	n/a
21	chr11:10476662-10476712	ProgFib	skin:	n/a
22	chr11:10476662-10476712	PANC-1	pancreas:	n/a
23	chr11:10476662-10476712	MCF-7	breast:	n/a
24	chr11:10476662-10476712	AG04450	lung:	fetal
25	chr11:10476662-10476712	LNCaP	prostate:	n/a
26	chr11:10476662-10476712	HRE	kidney:	n/a
27	chr11:10476662-10476712	NHBE	bronchial:	n/a
28	chr11:10476662-10476712	U87	brain:	n/a
29	chr11:10476662-10476712	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:10476662-10476712	NB4	blood:	n/a
31	chr11:10476662-10476712	HEK293	kidney:	embryo
32	chr11:10476662-10476712	HEEpiC	esophagus:	n/a
33	chr11:10476662-10476712	HCM	heart:	n/a
34	chr11:10476662-10476712	SKMC	muscle:	n/a
35	chr11:10476662-10476712	GM06990	blood:	n/a
36	chr11:10476662-10476712	Jurkat	blood:	n/a
37	chr11:10476662-10476712	BE2_C	brain:	n/a
38	chr11:10476662-10476712	HRPEpiC	eye:	n/a
39	chr11:10476662-10476712	CMK	blood:	n/a
40	chr11:10476662-10476712	NHDF-neo	bronchial:	n/a
41	chr11:10476662-10476712	BJ	skin:	n/a
42	chr11:10476662-10476712	NH-A	brain:	n/a
43	chr11:10476662-10476712	A549	lung:	n/a
44	chr11:10476662-10476712	HIPEpiC	eye:	n/a
45	chr11:10476662-10476712	HL-60	blood:	n/a
46	chr11:10476662-10476712	HepG2	liver:	n/a
47	chr11:10476662-10476712	Hela-S3	cervix:	n/a
48	chr11:10476662-10476712	HNPCEpiC	eye:	n/a
49	chr11:10476662-10476712	SK-N-SH	brain:	n/a
50	chr11:10476662-10476712	PrEC	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:10427808..10432250-chr11:10475440..10478017,5	K562	blood:
2	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
3	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:
4	chr11:10476262..10479144-chr11:10482528..10484355,2	K562	blood:

No data

Variant related genes	Relation type
AMPD3	TF binding region
AMPD3	CpG island
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11042817	0.95[ASN][1000 genomes]
rs11042827	0.91[ASN][1000 genomes]
rs11042828	0.87[ASN][1000 genomes]
rs930672	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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473000-10478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10473200-10476800	Weak transcription	Gastric	stomach
3	chr11:10473200-10477000	Weak transcription	Colonic Mucosa	Colon
4	chr11:10473200-10477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:10473200-10477200	Weak transcription	Liver	Liver
6	chr11:10473200-10478000	Enhancers	HMEC	breast
7	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
8	chr11:10473600-10476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:10473600-10477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:10473600-10477200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:10473600-10477200	Weak transcription	Right Atrium	heart
12	chr11:10473600-10477400	Weak transcription	Right Ventricle	heart
13	chr11:10473600-10477800	Weak transcription	Lung	lung
14	chr11:10473600-10477800	Weak transcription	Pancreas	Pancrea
15	chr11:10473800-10476800	Weak transcription	Esophagus	oesophagus
16	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:10474400-10476800	Weak transcription	Small Intestine	intestine
18	chr11:10474400-10477600	Enhancers	Brain Substantia Nigra	brain
19	chr11:10475400-10476800	Enhancers	NHLF	lung
20	chr11:10475400-10477200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:10475400-10477600	Enhancers	Fetal Muscle Leg	muscle
22	chr11:10475600-10476800	Enhancers	Primary B cells from cord blood	blood
23	chr11:10475600-10477000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:10475600-10477000	Enhancers	Fetal Kidney	kidney
25	chr11:10475600-10477200	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:10475600-10477200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:10475600-10477200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:10475600-10477200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:10475600-10477200	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:10475600-10477200	Enhancers	Fetal Thymus	thymus
31	chr11:10475600-10478600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:10475800-10476800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:10475800-10477000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:10475800-10477000	Enhancers	NHDF-Ad	bronchial
35	chr11:10475800-10477200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:10475800-10477200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr11:10476000-10476800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:10476000-10477000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:10476000-10477000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:10476000-10477000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:10476000-10477200	Enhancers	Primary T cells from cord blood	blood
42	chr11:10476000-10477200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:10476000-10477200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr11:10476000-10477400	Enhancers	Thymus	Thymus
45	chr11:10476000-10477600	Enhancers	Fetal Intestine Small	intestine
46	chr11:10476000-10477600	Bivalent Enhancer	Fetal Stomach	stomach
47	chr11:10476200-10477200	Flanking Active TSS	Hela-S3	cervix
48	chr11:10476200-10477800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:10476200-10478000	Flanking Active TSS	NHEK	skin
50	chr11:10476200-10478400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links