Variant report

Variant	rs2936037
Chromosome Location	chr1:222748565-222748566
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222748508..222750746-chr1:222752040..222754517,3	K562	blood:
2	chr1:222747881..222749778-chr1:222751683..222754115,2	MCF-7	breast:
3	chr1:222748011..222750721-chr1:222758316..222760837,2	MCF-7	breast:
4	chr1:222746416..222749268-chr1:222884399..222887306,2	K562	blood:

Variant related genes	Relation type
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11485178	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11485180	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11487813	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1319392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1603742	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17163214	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1909192	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1995152	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2133185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2173401	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378583	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2936027	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936031	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2936034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2936035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2936038	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2936040	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936048	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3002151	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3008641	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3008644	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3008650	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4400619	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1842070	chr1:222732027-222763235	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
2	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:222724800-222750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
9	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
10	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
11	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:222729800-222758800	Weak transcription	Pancreas	Pancrea
13	chr1:222730800-222760200	Weak transcription	Brain Substantia Nigra	brain
14	chr1:222730800-222761200	Weak transcription	Fetal Brain Male	brain
15	chr1:222731200-222762400	Weak transcription	Spleen	Spleen
16	chr1:222731600-222748600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:222731600-222756200	Weak transcription	Esophagus	oesophagus
18	chr1:222731600-222758800	Weak transcription	Gastric	stomach
19	chr1:222731600-222762200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:222733600-222762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:222733800-222761800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:222733800-222762200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:222734000-222762400	Weak transcription	Right Ventricle	heart
24	chr1:222734200-222762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:222734800-222750200	Weak transcription	HUVEC	blood vessel
26	chr1:222734800-222762200	Weak transcription	Colonic Mucosa	Colon
27	chr1:222738200-222753400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:222739000-222761600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:222739200-222753200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:222739400-222748600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:222739600-222751000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:222740000-222752600	Strong transcription	Dnd41	blood
33	chr1:222741200-222753200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:222742200-222755000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:222742200-222762400	Weak transcription	Fetal Kidney	kidney
36	chr1:222742600-222748600	Weak transcription	HepG2	liver
37	chr1:222742600-222755000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:222742600-222755800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:222742800-222749800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:222742800-222749800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:222742800-222755600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:222742800-222755600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:222742800-222759600	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:222742800-222760200	Weak transcription	Psoas Muscle	Psoas
45	chr1:222742800-222762200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:222743000-222762400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:222743200-222755600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:222743200-222755800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:222743400-222748600	Weak transcription	Brain Germinal Matrix	brain
50	chr1:222743400-222748600	Weak transcription	Fetal Intestine Large	intestine

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