Variant report

Variant	rs234669
Chromosome Location	chr1:184830048-184830049
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184823503..184826399-chr1:184827732..184830343,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12073168	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs16823601	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs16823603	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs16823613	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs16823651	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3737948	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs6662843	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs73050650	0.82[ASN][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	nsv3843	chr1:184798670-184858114	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184808200-184831400	Weak transcription	Gastric	stomach
2	chr1:184808400-184836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:184808400-184836000	Weak transcription	NHEK	skin
4	chr1:184808800-184834800	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:184814400-184834600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
7	chr1:184817600-184835800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:184821600-184835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:184821600-184842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:184821800-184836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184822000-184832800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:184824000-184835800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:184824000-184835800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:184824200-184834800	Weak transcription	NHDF-Ad	bronchial
15	chr1:184824800-184833200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:184824800-184835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:184826400-184834800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:184826400-184836800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:184826600-184835400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:184826600-184836200	Weak transcription	Aorta	Aorta
21	chr1:184828000-184830400	Enhancers	GM12878-XiMat	blood
22	chr1:184828400-184830800	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:184828400-184831400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:184828400-184833000	Enhancers	Fetal Heart	heart
25	chr1:184828600-184830400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:184828600-184830400	Enhancers	HSMMtube	muscle
27	chr1:184828800-184830200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:184829000-184830400	Enhancers	Right Ventricle	heart
29	chr1:184829000-184831000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:184829000-184834200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr1:184829200-184830200	Weak transcription	Pancreas	Pancrea
32	chr1:184829200-184831200	Weak transcription	Lung	lung
33	chr1:184829200-184831200	Weak transcription	Right Atrium	heart
34	chr1:184829200-184836200	Weak transcription	Left Ventricle	heart
35	chr1:184829600-184830400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:184829800-184830200	Active TSS	Fetal Muscle Leg	muscle
37	chr1:184829800-184830400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:184830000-184830400	Active TSS	Fetal Muscle Trunk	muscle
39	chr1:184830000-184830400	Enhancers	Stomach Mucosa	stomach
40	chr1:184830000-184830800	Enhancers	Fetal Brain Female	brain
41	chr1:184830000-184830800	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links