Variant report

Variant	rs234664
Chromosome Location	chr1:184855563-184855564
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	chr1:184842032..184844543-chr1:184855512..184857427,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1465106	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234642	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234647	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234649	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234651	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234652	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234653	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927681	0.87[EUR][1000 genomes]
rs35545276	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704242	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845472	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637494	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55710473	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55757920	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56076998	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278505	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374790	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639593	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657826	0.80[EUR][1000 genomes]
rs7528487	0.87[EUR][1000 genomes]
rs7528626	0.81[EUR][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:64 , 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	chr1:184851200-184857000	Weak transcription	Psoas Muscle	Psoas
12	chr1:184851600-184859600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:184852000-184874200	Weak transcription	Spleen	Spleen
14	chr1:184852600-184859000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:184852600-184859600	Weak transcription	Gastric	stomach
16	chr1:184852800-184856600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:184852800-184857000	Weak transcription	Hela-S3	cervix
18	chr1:184852800-184875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:184853000-184855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:184853000-184855600	Weak transcription	HMEC	breast
21	chr1:184853000-184856200	Weak transcription	NHEK	skin
22	chr1:184853000-184857400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:184853000-184858600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:184853400-184855800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:184853400-184857400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:184853400-184859000	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:184853800-184855600	Enhancers	Right Ventricle	heart
28	chr1:184853800-184859800	Weak transcription	GM12878-XiMat	blood
29	chr1:184854000-184856600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:184854000-184856600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:184854000-184857000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:184854000-184868600	Weak transcription	Fetal Stomach	stomach
33	chr1:184854200-184857400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:184854200-184861200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:184854600-184855600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:184854600-184855600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:184854600-184855600	Enhancers	Right Atrium	heart
38	chr1:184854600-184855800	Enhancers	Left Ventricle	heart
39	chr1:184854600-184856200	Enhancers	Colon Smooth Muscle	Colon
40	chr1:184854600-184858000	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:184854800-184856400	Enhancers	Fetal Heart	heart
42	chr1:184854800-184859000	Weak transcription	Aorta	Aorta
43	chr1:184855000-184855600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:184855000-184855800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:184855000-184856000	Enhancers	NH-A	brain
46	chr1:184855000-184856400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:184855000-184859600	Weak transcription	Primary T cells from cord blood	blood
48	chr1:184855200-184855600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr1:184855200-184855600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr1:184855200-184855600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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