Variant report

Variant	rs72786535
Chromosome Location	chr2:20673996-20673997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20672482..20676692-chr2:20708404..20712337,6	MCF-7	breast:
2	chr2:20672376..20674639-chr2:20775107..20777593,2	MCF-7	breast:
3	chr2:20672944..20676325-chr2:20833428..20835504,3	MCF-7	breast:
4	chr2:20671299..20674236-chr2:20698430..20700653,2	MCF-7	breast:
5	chr2:20672997..20675403-chr2:20825825..20827538,2	MCF-7	breast:
6	chr2:20673436..20676128-chr2:20804414..20806120,2	MCF-7	breast:
7	chr2:20673127..20675956-chr2:20701359..20706220,5	MCF-7	breast:
8	chr2:20671643..20674525-chr2:20712663..20715414,2	MCF-7	breast:
9	chr2:20672628..20675309-chr2:20724224..20726523,3	MCF-7	breast:
10	chr2:20672268..20676296-chr2:20688942..20691347,3	MCF-7	breast:
11	chr2:20673619..20674528-chr2:20817295..20818254,2	MCF-7	breast:
12	chr2:20642734..20659399-chr2:20663729..20679011,83	MCF-7	breast:
13	chr2:20657233..20657974-chr2:20673713..20674324,2	MCF-7	breast:
14	chr2:20673594..20675503-chr2:20817763..20819423,2	MCF-7	breast:
15	chr2:20671303..20674787-chr2:20817796..20820495,3	MCF-7	breast:
16	chr2:20673030..20677020-chr2:20693011..20697499,5	MCF-7	breast:
17	chr2:20547812..20550356-chr2:20673295..20674990,2	MCF-7	breast:
18	chr2:20643286..20659825-chr2:20662702..20680153,143	MCF-7	breast:
19	chr2:20670475..20680240-chr2:20690452..20700902,27	MCF-7	breast:
20	chr2:20672359..20675395-chr2:20791588..20794209,4	MCF-7	breast:
21	chr12:56222330..56225144-chr2:20671588..20674232,2	MCF-7	breast:
22	chr2:20645693..20649420-chr2:20672488..20676639,4	K562	blood:
23	chr2:20673517..20675225-chr2:20778394..20780354,2	MCF-7	breast:
24	chr2:20673986..20676261-chr2:20681219..20683452,2	K562	blood:
25	chr2:20645693..20649020-chr2:20672488..20676070,5	K562	blood:
26	chr2:20654763..20657420-chr2:20673291..20675499,2	K562	blood:
27	chr2:20673830..20674482-chr2:20696060..20696573,2	MCF-7	breast:
28	chr2:20670492..20674142-chr2:20847905..20851318,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135392	Chromatin interaction
ENSG00000231948	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3732161	1.00[AFR][1000 genomes]
rs59362641	1.00[ASN][1000 genomes]
rs60304749	1.00[ASN][1000 genomes]
rs62121969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62121970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62121973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv873722	chr2:20652507-20705910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20653400-20674000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:20666400-20681800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:20667600-20674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:20668000-20674000	Weak transcription	Ovary	ovary
5	chr2:20668200-20674000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:20669800-20674800	Weak transcription	Stomach Mucosa	stomach
7	chr2:20671400-20676000	Enhancers	Liver	Liver
8	chr2:20671600-20675600	Enhancers	Placenta	Placenta
9	chr2:20671800-20675000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:20671800-20675400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:20672000-20674200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:20672000-20675200	Enhancers	Brain Anterior Caudate	brain
13	chr2:20672000-20681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:20672200-20674400	Weak transcription	HSMMtube	muscle
15	chr2:20672200-20675400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:20672400-20674200	Enhancers	Left Ventricle	heart
17	chr2:20672400-20675000	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:20672400-20675000	Enhancers	Right Atrium	heart
19	chr2:20672400-20675600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:20672400-20675600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:20672600-20674000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:20673000-20674000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:20673000-20674000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:20673000-20674000	Enhancers	HepG2	liver
25	chr2:20673000-20675000	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:20673000-20675800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:20673000-20687000	Weak transcription	Spleen	Spleen
28	chr2:20673200-20674000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:20673200-20674000	Weak transcription	Gastric	stomach
30	chr2:20673200-20675600	Enhancers	Fetal Muscle Leg	muscle
31	chr2:20673200-20678800	Weak transcription	Psoas Muscle	Psoas
32	chr2:20673400-20682000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:20673400-20683400	Weak transcription	Esophagus	oesophagus
34	chr2:20673600-20675000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:20673800-20674000	Enhancers	NH-A	brain
36	chr2:20673800-20674600	Enhancers	Pancreas	Pancrea
37	chr2:20673800-20674800	Enhancers	Osteobl	bone
38	chr2:20673800-20675000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:20673800-20675000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:20673800-20675000	Enhancers	Brain Hippocampus Middle	brain
41	chr2:20673800-20675000	Enhancers	NHDF-Ad	bronchial
42	chr2:20673800-20675200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:20673800-20675200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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