Variant report

Variant	rs55638185
Chromosome Location	chr1:169847844-169847845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169846979..169849303-chr1:169851464..169854908,3	K562	blood:
2	chr1:169798250..169800377-chr1:169845673..169848267,2	K562	blood:
3	chr1:169846941..169849701-chr1:169857998..169859525,2	MCF-7	breast:
4	chr1:169845717..169848182-chr1:169860925..169862962,2	MCF-7	breast:
5	chr1:169846456..169849390-chr1:169863296..169865489,2	MCF-7	breast:
6	chr1:169846082..169850359-chr1:169859892..169864668,5	K562	blood:
7	chr1:169847146..169850317-chr1:169850331..169854277,4	K562	blood:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12036604	1.00[AMR][1000 genomes]
rs12038006	1.00[AMR][1000 genomes]
rs12038720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12044905	1.00[AMR][1000 genomes]
rs16862905	1.00[EUR][1000 genomes]
rs2272917	1.00[AFR][1000 genomes]
rs2273459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3790404	1.00[EUR][1000 genomes]
rs3817858	1.00[AFR][1000 genomes]
rs45601233	1.00[EUR][1000 genomes]
rs58145083	1.00[EUR][1000 genomes]
rs60882156	1.00[EUR][1000 genomes]
rs74122304	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169786200-169862400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:169805400-169848800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:169806600-169860000	Weak transcription	Stomach Mucosa	stomach
4	chr1:169814400-169848600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr1:169814800-169848000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:169815200-169848200	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:169815400-169848400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:169817800-169848600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:169819000-169848200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:169820600-169848400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:169820600-169848600	Strong transcription	Fetal Lung	lung
12	chr1:169826800-169848600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:169831800-169848400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:169833800-169860200	Weak transcription	HMEC	breast
15	chr1:169837400-169848000	Strong transcription	Brain Anterior Caudate	brain
16	chr1:169841800-169848200	Strong transcription	Placenta	Placenta
17	chr1:169841800-169848400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:169841800-169848400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:169841800-169848600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:169841800-169848600	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:169842000-169848000	Strong transcription	Thymus	Thymus
22	chr1:169842000-169848400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:169842000-169848400	Strong transcription	Fetal Thymus	thymus
24	chr1:169842000-169848600	Strong transcription	Fetal Intestine Large	intestine
25	chr1:169842200-169857400	Weak transcription	Fetal Brain Male	brain
26	chr1:169842400-169848400	Strong transcription	Dnd41	blood
27	chr1:169842400-169848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:169842400-169850800	Weak transcription	Esophagus	oesophagus
29	chr1:169842400-169851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:169842400-169851000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:169842400-169855600	Weak transcription	Brain Angular Gyrus	brain
32	chr1:169842400-169860000	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:169842600-169854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:169843000-169850200	Weak transcription	Colonic Mucosa	Colon
35	chr1:169843000-169851000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:169843200-169848000	Strong transcription	Spleen	Spleen
37	chr1:169843200-169848600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:169843600-169848400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:169843600-169855000	Weak transcription	NHEK	skin
40	chr1:169843800-169848000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:169843800-169848000	Strong transcription	GM12878-XiMat	blood
42	chr1:169843800-169848600	Strong transcription	Primary T cells from cord blood	blood
43	chr1:169843800-169850800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:169844000-169851200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:169844000-169851200	Weak transcription	Pancreas	Pancrea
46	chr1:169844000-169860000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:169844400-169857400	Weak transcription	K562	blood
48	chr1:169844800-169851200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:169844800-169854600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:169844800-169855400	Weak transcription	Hela-S3	cervix

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