Variant report

Variant	rs7576990
Chromosome Location	chr2:99096133-99096134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99059863..99064157-chr2:99094634..99097949,4	MCF-7	breast:
2	chr2:99091313..99093056-chr2:99094548..99096331,2	MCF-7	breast:
3	chr2:99082896..99084437-chr2:99094798..99096441,2	MCF-7	breast:
4	chr2:99096047..99098588-chr2:99150160..99153117,3	K562	blood:
5	chr2:99092438..99094254-chr2:99095903..99098487,2	K562	blood:
6	chr2:99085620..99087469-chr2:99095244..99097109,2	MCF-7	breast:
7	chr2:99094929..99096492-chr2:99099848..99102638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000040933	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61163796	1.00[AMR][1000 genomes]
rs72956620	1.00[AMR][1000 genomes]
rs73964091	1.00[EUR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
2	chr2:99082600-99096200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:99086400-99098800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:99086600-99097400	Enhancers	Colonic Mucosa	Colon
5	chr2:99088800-99096200	Weak transcription	HSMMtube	muscle
6	chr2:99089000-99099400	Enhancers	Colon Smooth Muscle	Colon
7	chr2:99089000-99100000	Weak transcription	HepG2	liver
8	chr2:99090000-99098000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:99090000-99098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:99090600-99099600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:99090600-99107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:99090800-99096200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:99090800-99097000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:99090800-99099600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:99090800-99099800	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:99090800-99108000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:99091000-99096200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:99091000-99097800	Enhancers	Fetal Thymus	thymus
19	chr2:99091400-99097200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:99091600-99096800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr2:99091800-99096200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:99091800-99099800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:99092000-99101200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:99092600-99096600	Enhancers	Primary B cells from cord blood	blood
25	chr2:99092600-99097000	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:99092800-99097600	Enhancers	Right Atrium	heart
27	chr2:99092800-99098400	Enhancers	Pancreas	Pancrea
28	chr2:99092800-99099000	Enhancers	Right Ventricle	heart
29	chr2:99092800-99101800	Enhancers	Left Ventricle	heart
30	chr2:99092800-99103400	Enhancers	Lung	lung
31	chr2:99093000-99097600	Enhancers	Fetal Heart	heart
32	chr2:99093200-99096200	Weak transcription	Gastric	stomach
33	chr2:99093200-99096200	Weak transcription	A549	lung
34	chr2:99093200-99096800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:99093400-99097000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:99093600-99097600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:99093600-99101000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:99093800-99097800	Enhancers	Brain Anterior Caudate	brain
39	chr2:99093800-99099600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr2:99094000-99097600	Enhancers	Brain Angular Gyrus	brain
41	chr2:99094000-99107000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:99094200-99096800	Enhancers	Esophagus	oesophagus
43	chr2:99094200-99097200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:99094200-99097200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:99094200-99097400	Enhancers	Brain Hippocampus Middle	brain
46	chr2:99094200-99097600	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:99094200-99097600	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:99094200-99097600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr2:99094200-99097600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:99094200-99097800	Enhancers	Fetal Muscle Leg	muscle

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