Variant report

Variant	rs6662843
Chromosome Location	chr1:184858146-184858147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12045533	1.00[GIH][hapmap]
rs12073168	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16823601	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs16823603	1.00[CHB][hapmap]
rs16823613	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs16823651	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16823734	1.00[GIH][hapmap]
rs234669	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs2840217	1.00[TSI][hapmap]
rs3737948	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6690708	1.00[TSI][hapmap]
rs73050650	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv947555	chr1:184857808-184861749	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184831400-184874200	Weak transcription	Lung	lung
3	chr1:184837200-184858400	Weak transcription	K562	blood
4	chr1:184837200-184859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:184837200-184869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:184838000-184859200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:184839800-184858600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:184840000-184858200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:184843000-184866800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:184844200-184874200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:184851600-184859600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:184852000-184874200	Weak transcription	Spleen	Spleen
13	chr1:184852600-184859000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:184852600-184859600	Weak transcription	Gastric	stomach
15	chr1:184852800-184875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:184853000-184858600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:184853400-184859000	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:184853800-184859800	Weak transcription	GM12878-XiMat	blood
19	chr1:184854000-184868600	Weak transcription	Fetal Stomach	stomach
20	chr1:184854200-184861200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:184854800-184859000	Weak transcription	Aorta	Aorta
22	chr1:184855000-184859600	Weak transcription	Primary T cells from cord blood	blood
23	chr1:184855200-184858400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:184855400-184860000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:184855400-184860000	Enhancers	NHDF-Ad	bronchial
26	chr1:184855600-184858400	Weak transcription	Right Atrium	heart
27	chr1:184855600-184858600	Weak transcription	Right Ventricle	heart
28	chr1:184855600-184859200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:184855600-184868800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:184855600-184869200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:184855800-184858400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:184855800-184860000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:184855800-184868600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:184856000-184859000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:184856200-184859200	Enhancers	NHEK	skin
36	chr1:184856600-184859200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:184856600-184859400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:184856600-184860000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:184857000-184858400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:184857000-184858400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:184857000-184858800	Enhancers	Colon Smooth Muscle	Colon
42	chr1:184857000-184859200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:184857000-184859400	Enhancers	NH-A	brain
44	chr1:184857000-184860200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:184857000-184860400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:184857200-184858200	Enhancers	Osteobl	bone
47	chr1:184857200-184859200	Enhancers	Fetal Heart	heart
48	chr1:184857200-184860400	Enhancers	HMEC	breast
49	chr1:184857200-184875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:184857400-184858600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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