Variant report

Variant	rs17031889
Chromosome Location	chr2:99070251-99070252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99068438..99070988-chr2:99085301..99087852,2	MCF-7	breast:
2	chr2:99066884..99071356-chr2:99073843..99078046,5	MCF-7	breast:
3	chr2:99066696..99070384-chr2:99081151..99084489,3	K562	blood:
4	chr2:99060106..99062995-chr2:99065666..99070960,6	MCF-7	breast:
5	chr2:99060752..99063329-chr2:99069917..99072257,2	K562	blood:

Variant related genes	Relation type
ENSG00000040933	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10184555	1.00[AMR][1000 genomes]
rs13007839	0.94[AFR][1000 genomes]
rs13395005	1.00[AMR][1000 genomes]
rs13429817	1.00[AMR][1000 genomes]
rs17021866	1.00[AMR][1000 genomes]
rs17031804	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9631039	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99062800-99070600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:99062800-99070800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:99063000-99070600	Weak transcription	Placenta	Placenta
4	chr2:99063000-99071600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:99063000-99071800	Weak transcription	Liver	Liver
6	chr2:99063600-99070600	Weak transcription	Fetal Stomach	stomach
7	chr2:99063600-99070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:99063600-99070800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:99063600-99070800	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:99063600-99071000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:99063600-99071000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:99063600-99072200	Weak transcription	Fetal Intestine Large	intestine
13	chr2:99063600-99072200	Enhancers	Fetal Thymus	thymus
14	chr2:99063600-99072400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:99063600-99075600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:99063800-99070600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:99063800-99070600	Weak transcription	Adipose Nuclei	Adipose
18	chr2:99063800-99072200	Weak transcription	Aorta	Aorta
19	chr2:99064000-99071800	Weak transcription	Brain Substantia Nigra	brain
20	chr2:99064400-99071800	Weak transcription	Fetal Brain Male	brain
21	chr2:99064600-99070800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:99065400-99071200	Enhancers	Thymus	Thymus
23	chr2:99065400-99071800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:99065600-99071000	Weak transcription	Small Intestine	intestine
25	chr2:99065600-99072000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:99065600-99072200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:99065600-99079600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:99065600-99079600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:99065800-99070600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:99065800-99070600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:99065800-99071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:99065800-99071400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:99066000-99070800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:99066200-99072200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:99066200-99075800	Weak transcription	Psoas Muscle	Psoas
36	chr2:99066400-99070800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:99066600-99070800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:99066600-99071600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:99066800-99070600	Weak transcription	HepG2	liver
40	chr2:99066800-99075400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:99067000-99072000	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:99067000-99072000	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:99067600-99070600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:99067600-99071800	Enhancers	Primary B cells from cord blood	blood
45	chr2:99067600-99072600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:99067600-99073000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:99067800-99071000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:99068000-99070600	Weak transcription	Fetal Brain Female	brain
49	chr2:99068000-99073000	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:99068000-99073600	Weak transcription	NHEK	skin

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