Variant report

Variant	rs2985708
Chromosome Location	chr1:155760282-155760283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155758116..155760937-chr1:155763404..155765348,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1094462	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11803678	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13374129	0.95[EUR][1000 genomes]
rs1624846	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16837037	0.95[EUR][1000 genomes]
rs171167	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1749417	0.82[AMR][1000 genomes]
rs1749421	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1765284	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1962247	0.90[EUR][1000 genomes]
rs2477541	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2686255	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28574887	0.95[EUR][1000 genomes]
rs348206	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35044707	0.95[EUR][1000 genomes]
rs41264969	0.90[EUR][1000 genomes]
rs4253908	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4612618	0.95[EUR][1000 genomes]
rs4933	0.90[EUR][1000 genomes]
rs543854	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs548809	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs552778	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56758819	0.95[EUR][1000 genomes]
rs59706606	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59791187	0.95[EUR][1000 genomes]
rs61258690	0.80[EUR][1000 genomes]
rs621181	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs682020	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs708612	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73001021	0.95[EUR][1000 genomes]
rs7525057	0.85[EUR][1000 genomes]
rs7530530	0.83[AFR][1000 genomes]
rs7535158	0.85[EUR][1000 genomes]
rs822016	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822018	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822020	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822022	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822026	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs822497	0.91[AMR][1000 genomes]
rs822523	0.96[AMR][1000 genomes]
rs9426929	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9427223	0.86[AMR][1000 genomes];0.90[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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3381668	chr1:155760085-155760337	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155715600-155764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155717200-155761000	Strong transcription	Fetal Stomach	stomach
6	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
8	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:155720400-155760800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:155730400-155764200	Weak transcription	Psoas Muscle	Psoas
12	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:155737200-155772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:155743000-155763400	Weak transcription	HMEC	breast
15	chr1:155743200-155773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:155743600-155762200	Weak transcription	NHDF-Ad	bronchial
17	chr1:155745200-155761000	Strong transcription	Fetal Intestine Small	intestine
18	chr1:155746400-155774000	Weak transcription	Pancreas	Pancrea
19	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
20	chr1:155746600-155763400	Weak transcription	Spleen	Spleen
21	chr1:155747000-155763000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:155747000-155764200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:155747200-155763400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:155747400-155763200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:155747600-155764000	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:155747600-155764200	Weak transcription	A549	lung
27	chr1:155747600-155764400	Weak transcription	Ovary	ovary
28	chr1:155747600-155776200	Weak transcription	Right Ventricle	heart
29	chr1:155747600-155787200	Weak transcription	Esophagus	oesophagus
30	chr1:155747800-155762200	Weak transcription	K562	blood
31	chr1:155747800-155762600	Weak transcription	NHLF	lung
32	chr1:155747800-155764400	Weak transcription	NHEK	skin
33	chr1:155747800-155785600	Weak transcription	Fetal Brain Male	brain
34	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
35	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:155748800-155771600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:155749800-155766400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:155751800-155761200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:155751800-155765600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:155751800-155777600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:155752000-155765800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:155752000-155771000	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:155752200-155763600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:155752800-155762600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:155753400-155760800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:155754800-155762800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:155754800-155770600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:155755000-155761400	Weak transcription	HepG2	liver
49	chr1:155755000-155761800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:155755000-155761800	Weak transcription	Brain Anterior Caudate	brain

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