Variant report

Variant	rs7576826
Chromosome Location	chr2:11723021-11723022
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	CTCF	chr2:11722923-11723145	MCF-7	breast:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
2	GTF2F1	chr2:11722943-11723124	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUND	chr2:11722962-11723344	HepG2	liver:	n/a	chr2:11723150-11723162 chr2:11723152-11723161 chr2:11723153-11723160 chr2:11723150-11723161 chr2:11723151-11723161 chr2:11723152-11723160 chr2:11723245-11723254
4	CTCF	chr2:11722920-11723070	GM12875	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
5	CTCF	chr2:11722879-11723164	LNCaP	prostate:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
6	CTCF	chr2:11722980-11723130	HFF-Myc	foreskin:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
7	RAD21	chr2:11722920-11723073	K562	blood:	n/a	chr2:11723021-11723031 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025
8	CTCF	chr2:11722734-11723242	HepG2	liver:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
9	CTCF	chr2:11722940-11723090	GM12870	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
10	CTCF	chr2:11722960-11723110	GM12864	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
11	MXI1	chr2:11722624-11723290	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr2:11722940-11723090	HRPEpiC	eye:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
13	CTCF	chr2:11722662-11723219	H1-hESC	embryonic stem cell:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
14	CTCF	chr2:11722940-11723090	HEEpiC	esophagus:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
15	CTCF	chr2:11722751-11723195	GM13977	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
16	CTCF	chr2:11722980-11723130	GM12872	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
17	CTCF	chr2:11722920-11723070	RPTEC	kidney:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
18	CTCF	chr2:11722900-11723050	GM12870	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
19	JUND	chr2:11722869-11723190	K562	blood:	n/a	chr2:11723150-11723162 chr2:11723152-11723161 chr2:11723153-11723160 chr2:11723150-11723161 chr2:11723151-11723161 chr2:11723152-11723160
20	FOS	chr2:11723012-11723039	MCF10A-Er-Src	breast:	n/a	n/a
21	RAD21	chr2:11722904-11723169	GM12878	blood:	n/a	chr2:11723021-11723031 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025
22	RAD21	chr2:11722826-11723295	MCF-7	breast:	n/a	chr2:11723021-11723031 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025
23	CTCF	chr2:11722791-11723228	K562	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
24	CTCF	chr2:11722960-11723110	HCT-116	colon:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
25	MYC	chr2:11722849-11723202	K562	blood:	n/a	chr2:11722952-11722962 chr2:11723151-11723160 chr2:11723152-11723161
26	RAD21	chr2:11722662-11723275	HepG2	liver:	n/a	chr2:11723021-11723031 chr2:11722764-11722776 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025 chr2:11722806-11722820
27	CTCF	chr2:11722940-11723090	AG09309	skin:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
28	MXI1	chr2:11722730-11723148	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr2:11722929-11723138	Kidney_OC	kidney:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
30	CTCF	chr2:11722940-11723090	NHLF	lung:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
31	CTCF	chr2:11722960-11723110	HFF-Myc	foreskin:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
32	CTCF	chr2:11722940-11723090	HCFaa	heart:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
33	RAD21	chr2:11722781-11723209	MCF-7	breast:	n/a	chr2:11723021-11723031 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025 chr2:11722806-11722820
34	CTCF	chr2:11721671-11723784	SK-N-SH	brain:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
35	RAD21	chr2:11722800-11723186	GM12878	blood:	n/a	chr2:11723021-11723031 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025 chr2:11722806-11722820
36	BRCA1	chr2:11722923-11723094	HepG2	liver:	n/a	n/a
37	CTCF	chr2:11722940-11723090	AoAF	blood vessel:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
38	CTCF	chr2:11722960-11723110	GM12874	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
39	PBX3	chr2:11722852-11723088	GM12878	blood:	n/a	chr2:11722984-11722993
40	CTCF	chr2:11722889-11723151	MCF-7	breast:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
41	MYBL2	chr2:11722722-11723839	HepG2	liver:	n/a	n/a
42	RFX5	chr2:11722946-11723712	HepG2	liver:	n/a	n/a
43	CTCF	chr2:11722874-11723163	K562	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
44	RAD21	chr2:11722728-11723244	H1-hESC	embryonic stem cell:	n/a	chr2:11723021-11723031 chr2:11722764-11722776 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025 chr2:11722806-11722820
45	CTCF	chr2:11722927-11723144	GM20000	blood:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
46	CTCF	chr2:11722920-11723070	HEEpiC	esophagus:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
47	RAD21	chr2:11722792-11723261	ECC-1	luminal epithelium:	n/a	chr2:11723021-11723031 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025 chr2:11722806-11722820
48	SMC3	chr2:11722811-11723178	K562	blood:	n/a	chr2:11723015-11723029 chr2:11723015-11723025 chr2:11722825-11722839 chr2:11723021-11723031
49	CTCF	chr2:11722825-11723225	IMR90	lung:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
50	ZNF384	chr2:11722953-11723125	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11674992..11675535-chr2:11722581..11723483,3	MCF-7	breast:
2	chr2:11617839..11618544-chr2:11722552..11723470,3	MCF-7	breast:
3	chr2:11617909..11619476-chr2:11722476..11723331,8	K562	blood:
4	chr2:11713329..11715208-chr2:11722167..11724043,2	K562	blood:
5	chr2:11619147..11621466-chr2:11720727..11723071,2	K562	blood:
6	chr2:11272792..11273388-chr2:11722468..11723500,6	K562	blood:
7	chr2:11617635..11618699-chr2:11722537..11723549,3	MCF-7	breast:
8	chr2:11722583..11723278-chr2:206254771..206255272,2	K562	blood:
9	chr2:11620284..11621192-chr2:11722895..11723465,2	K562	blood:

Variant related genes	Relation type
RN7SL674P	TF binding region
ENSG00000145063	Chromatin interaction
ENSG00000150873	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10165819	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10200851	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929759	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11674184	0.85[ASN][1000 genomes]
rs11674605	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679686	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12468019	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12993278	0.87[EUR][1000 genomes]
rs13016186	0.85[EUR][1000 genomes]
rs13017593	0.86[EUR][1000 genomes]
rs13394619	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16857668	0.86[ASN][1000 genomes]
rs1865573	0.86[ASN][1000 genomes]
rs2358040	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2884374	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4669752	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6746291	0.90[EUR][1000 genomes]
rs7578132	0.80[EUR][1000 genomes]
rs9287734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9678410	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789414	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9798272	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11697000-11723200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
5	chr2:11709800-11724200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:11711600-11723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
8	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:11719200-11725800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:11719200-11738000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:11719400-11750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:11720000-11735600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:11721600-11733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11721800-11726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:11722000-11724600	Enhancers	Fetal Muscle Leg	muscle
17	chr2:11722000-11725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:11722200-11723400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:11722200-11724600	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:11722400-11723200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:11722400-11723200	Active TSS	A549	lung
22	chr2:11722400-11723400	Enhancers	Fetal Lung	lung
23	chr2:11722400-11724400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:11722400-11724400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:11722600-11723200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr2:11722600-11723600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:11722600-11723600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:11722600-11723600	Enhancers	Brain Hippocampus Middle	brain
29	chr2:11722600-11724200	Enhancers	Pancreas	Pancrea
30	chr2:11722600-11724400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:11722600-11724800	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:11722600-11724800	Enhancers	HSMMtube	muscle
33	chr2:11722800-11723200	Enhancers	Brain Substantia Nigra	brain
34	chr2:11722800-11723400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:11722800-11723400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:11722800-11723800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:11722800-11724200	Enhancers	Placenta	Placenta
38	chr2:11722800-11724200	Enhancers	Ovary	ovary
39	chr2:11722800-11724400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:11722800-11724400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:11722800-11724400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:11722800-11724400	Enhancers	Fetal Stomach	stomach
43	chr2:11722800-11724400	Enhancers	HSMM	muscle
44	chr2:11722800-11724800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:11722800-11724800	Enhancers	Stomach Mucosa	stomach
46	chr2:11722800-11724800	Enhancers	NHDF-Ad	bronchial
47	chr2:11723000-11723200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:11723000-11723200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr2:11723000-11723200	Genic enhancers	HepG2	liver
50	chr2:11723000-11723200	Bivalent Enhancer	NHEK	skin

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