Variant report

Variant	rs36051870
Chromosome Location	chr1:209820022-209820023
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209819462..209820022-chr1:209865978..209866838,2	MCF-7	breast:
2	chr1:209819739..209821302-chr1:210547296..210548909,2	K562	blood:
3	chr1:209819912..209820560-chr1:209920680..209921530,2	MCF-7	breast:
4	chr1:209814818..209817682-chr1:209819640..209823452,3	MCF-7	breast:
5	chr1:209819600..209821361-chr1:209865493..209866846,9	MCF-7	breast:
6	chr1:209805910..209807493-chr1:209818305..209821287,2	K562	blood:
7	chr1:209813134..209815855-chr1:209819487..209823509,3	MCF-7	breast:
8	chr1:209819013..209821491-chr1:209825651..209827490,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000196878	Chromatin interaction

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

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

rs_ID	r²[population]
rs10489340	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10863778	1.00[ASN][1000 genomes]
rs12073223	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12089972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12090288	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12403733	0.80[EUR][1000 genomes]
rs12410975	0.86[EUR][1000 genomes]
rs17014889	0.80[EUR][1000 genomes]
rs17014906	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014942	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17014955	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17015006	0.95[AMR][1000 genomes]
rs2072937	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2072939	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2072942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076219	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076222	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076232	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076347	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076348	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076352	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2229466	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2235542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236889	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2236890	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282734	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282736	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282737	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298924	1.00[ASN][1000 genomes]
rs2298927	1.00[ASN][1000 genomes]
rs2298929	1.00[ASN][1000 genomes]
rs58679997	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59815577	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60927005	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs714971	0.86[AMR][1000 genomes];0.80[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv2762140	chr1:209816331-209830347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209814200-209821400	Enhancers	Fetal Muscle Trunk	muscle
2	chr1:209814200-209825000	Enhancers	Fetal Muscle Leg	muscle
3	chr1:209814400-209823200	Genic enhancers	Fetal Intestine Large	intestine
4	chr1:209814600-209820600	Enhancers	Adipose Nuclei	Adipose
5	chr1:209814600-209820800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:209814600-209822400	Genic enhancers	Fetal Intestine Small	intestine
7	chr1:209814600-209823200	Enhancers	Fetal Heart	heart
8	chr1:209814600-209826800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:209814800-209820400	Enhancers	Placenta	Placenta
10	chr1:209814800-209821000	Enhancers	Fetal Brain Male	brain
11	chr1:209815200-209820400	Weak transcription	Gastric	stomach
12	chr1:209815800-209821800	Weak transcription	HUVEC	blood vessel
13	chr1:209816000-209820800	Enhancers	Fetal Thymus	thymus
14	chr1:209816000-209824200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
15	chr1:209816200-209820800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:209816200-209821600	Enhancers	Right Ventricle	heart
17	chr1:209817000-209825400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:209817400-209824600	Weak transcription	Aorta	Aorta
19	chr1:209817600-209821800	Weak transcription	Colonic Mucosa	Colon
20	chr1:209817600-209821800	Weak transcription	Small Intestine	intestine
21	chr1:209817600-209822400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:209817600-209824800	Transcr. at gene 5' and 3'	HMEC	breast
23	chr1:209817800-209822800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:209817800-209825800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:209817800-209826000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:209818000-209820200	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:209818000-209821800	Weak transcription	Liver	Liver
28	chr1:209818000-209826000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:209818200-209820200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:209818200-209821400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:209818200-209825800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:209818200-209826000	Weak transcription	Brain Substantia Nigra	brain
33	chr1:209818600-209825200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:209819000-209821600	Genic enhancers	Fetal Stomach	stomach
35	chr1:209819000-209823000	Enhancers	Ovary	ovary
36	chr1:209819000-209823600	Enhancers	Right Atrium	heart
37	chr1:209819000-209825200	Enhancers	HSMM	muscle
38	chr1:209819200-209820200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:209819200-209820200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:209819200-209820400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:209819200-209821000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:209819200-209821000	Enhancers	Esophagus	oesophagus
43	chr1:209819200-209821200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:209819200-209822400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:209819200-209823000	Enhancers	Stomach Mucosa	stomach
46	chr1:209819200-209823200	Enhancers	Fetal Kidney	kidney
47	chr1:209819200-209824800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:209819200-209825000	Transcr. at gene 5' and 3'	NHEK	skin
49	chr1:209819200-209825400	Enhancers	NHLF	lung
50	chr1:209819200-209827400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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