Variant report

Variant	rs7601782
Chromosome Location	chr2:11296492-11296493
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:11295464-11296700	SK-N-SH	brain:	n/a	n/a
2	E2F6	chr2:11295516-11296506	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11273055..11275301-chr2:11293268..11296881,3	MCF-7	breast:
2	chr2:11296019..11298621-chr2:11300609..11302864,3	K562	blood:
3	chr2:11292941..11297094-chr2:11480820..11486254,6	MCF-7	breast:
4	chr2:11273067..11276077-chr2:11294167..11297061,3	K562	blood:
5	chr2:11294308..11297184-chr2:11482767..11485221,3	K562	blood:
6	chr2:11271098..11275692-chr2:11293512..11297101,4	MCF-7	breast:
7	chr12:92538292..92539809-chr2:11295819..11297319,2	K562	blood:
8	chr2:11294400..11297941-chr2:11298345..11302243,10	MCF-7	breast:
9	chr2:11295929..11299678-chr2:11300609..11303606,5	K562	blood:
10	chr2:11295159..11297169-chr2:11486526..11488952,2	K562	blood:

No data

Variant related genes	Relation type
PQLC3	TF binding region
ENSG00000162976	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000145063	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10929723	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10929724	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11676692	0.81[ASN][1000 genomes]
rs12612929	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12615623	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12617097	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12987119	0.84[ASN][1000 genomes]
rs12994920	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12995564	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13000987	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13022766	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13028675	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13030385	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13031027	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1828930	0.81[ASN][1000 genomes]
rs34315339	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34333866	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34344767	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34722769	0.84[ASN][1000 genomes]
rs35536828	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36026430	0.81[ASN][1000 genomes]
rs4668714	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4669695	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55691236	0.92[ASN][1000 genomes]
rs55975936	0.81[ASN][1000 genomes]
rs6744659	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6754718	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6754745	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71439048	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs727803	0.81[ASN][1000 genomes]
rs72785431	0.81[AMR][1000 genomes]
rs7556705	0.83[ASN][1000 genomes]
rs7581322	0.83[ASN][1000 genomes]
rs7605804	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7606827	0.83[ASN][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	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3392188	chr2:11294026-11296874	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	esv3368553	chr2:11294376-11296624	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11295000-11296600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:11295000-11296600	Active TSS	HSMM	muscle
3	chr2:11295800-11296600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr2:11295800-11296600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr2:11295800-11296600	Flanking Active TSS	Dnd41	blood
6	chr2:11295800-11296800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr2:11295800-11296800	Flanking Active TSS	Colonic Mucosa	Colon
8	chr2:11295800-11296800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:11296000-11296600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:11296000-11296600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr2:11296000-11296600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:11296000-11296600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:11296000-11296600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr2:11296000-11296600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:11296000-11296600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:11296000-11296600	Flanking Active TSS	Fetal Brain Female	brain
17	chr2:11296000-11296600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:11296000-11296600	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr2:11296000-11296600	Flanking Active TSS	A549	lung
20	chr2:11296000-11296800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr2:11296000-11296800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr2:11296200-11296600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:11296200-11296600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:11296200-11296600	Enhancers	Fetal Thymus	thymus
25	chr2:11296200-11296800	Enhancers	Esophagus	oesophagus
26	chr2:11296200-11296800	Enhancers	Left Ventricle	heart
27	chr2:11296200-11296800	Enhancers	Small Intestine	intestine
28	chr2:11296200-11297000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:11296200-11297000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:11296200-11297000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:11296200-11298200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:11296200-11298200	Enhancers	Lung	lung
33	chr2:11296200-11298200	Enhancers	Spleen	Spleen
34	chr2:11296200-11299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:11296200-11329400	Weak transcription	Gastric	stomach
36	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
37	chr2:11296400-11296600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:11296400-11296600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:11296400-11296600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:11296400-11296600	Enhancers	Primary T cells from cord blood	blood
41	chr2:11296400-11296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:11296400-11296600	Enhancers	Liver	Liver
43	chr2:11296400-11296600	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:11296400-11296600	Enhancers	Brain Germinal Matrix	brain
45	chr2:11296400-11296600	Enhancers	Brain Hippocampus Middle	brain
46	chr2:11296400-11296600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:11296400-11296600	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr2:11296400-11296600	Enhancers	Fetal Lung	lung
49	chr2:11296400-11296600	Weak transcription	Ovary	ovary
50	chr2:11296400-11296600	Enhancers	Placenta Amnion	Placenta Amnion

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