Variant report

Variant	rs61035948
Chromosome Location	chr1:161773635-161773636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161773345..161775131-chr1:161792112..161794630,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16845999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846658	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847240	1.00[AFR][1000 genomes]
rs16853992	0.88[AFR][1000 genomes]
rs16859709	0.88[AFR][1000 genomes]
rs2340714	1.00[AFR][1000 genomes]
rs4517327	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161737200-161775200	Weak transcription	Fetal Stomach	stomach
2	chr1:161737200-161775800	Weak transcription	Stomach Mucosa	stomach
3	chr1:161737200-161780000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:161738600-161794000	Weak transcription	Pancreas	Pancrea
5	chr1:161738600-161795600	Weak transcription	Gastric	stomach
6	chr1:161745400-161780000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:161747600-161773800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:161748000-161778800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:161748200-161780000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:161749000-161777000	Strong transcription	Liver	Liver
11	chr1:161749200-161780000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:161750600-161774800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:161751800-161773800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:161752200-161780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:161752600-161776000	Weak transcription	Fetal Heart	heart
16	chr1:161753200-161780000	Weak transcription	Esophagus	oesophagus
17	chr1:161753400-161800600	Weak transcription	Spleen	Spleen
18	chr1:161755000-161793600	Weak transcription	Colonic Mucosa	Colon
19	chr1:161755400-161780000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:161756200-161776800	Strong transcription	Primary B cells from cord blood	blood
21	chr1:161757400-161778400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:161757400-161797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:161759200-161773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:161759600-161773800	Strong transcription	Primary T cells from cord blood	blood
25	chr1:161759600-161777400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:161760400-161780200	Weak transcription	A549	lung
27	chr1:161760800-161777200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:161761200-161774400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr1:161761200-161774600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:161762200-161776000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:161762200-161779800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:161762200-161780000	Weak transcription	Thymus	Thymus
33	chr1:161762200-161790600	Weak transcription	Fetal Brain Male	brain
34	chr1:161762400-161779800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:161762400-161790800	Weak transcription	NH-A	brain
36	chr1:161762400-161791200	Weak transcription	Right Ventricle	heart
37	chr1:161762400-161795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:161762800-161797600	Weak transcription	HMEC	breast
39	chr1:161763000-161797400	Weak transcription	NHLF	lung
40	chr1:161763400-161779800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:161763400-161780000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:161764800-161780200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:161765800-161779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:161765800-161779800	Weak transcription	Ovary	ovary
45	chr1:161765800-161780200	Weak transcription	Brain Angular Gyrus	brain
46	chr1:161766000-161776000	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:161766000-161780600	Weak transcription	Brain Anterior Caudate	brain
48	chr1:161766000-161790800	Weak transcription	Lung	lung
49	chr1:161767400-161779800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:161767400-161791200	Weak transcription	Aorta	Aorta

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