Variant report

Variant	rs3769722
Chromosome Location	chr2:99107097-99107098
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99098848..99102252-chr2:99105499..99109445,4	MCF-7	breast:
2	chr2:99104340..99107491-chr2:99108122..99111203,3	MCF-7	breast:
3	chr2:99106605..99108697-chr2:99112654..99115473,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13395005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13429817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17030716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17502330	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2271041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3171842	1.00[ASN][1000 genomes]
rs3731655	1.00[ASN][1000 genomes]
rs3769704	0.87[ASN][1000 genomes]
rs3769720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769731	1.00[ASN][1000 genomes]
rs3769732	1.00[ASN][1000 genomes]
rs3769742	1.00[ASN][1000 genomes]
rs3820944	1.00[ASN][1000 genomes]
rs41460047	1.00[ASN][1000 genomes]
rs7564438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7589617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7602422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7604711	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9631039	1.00[ASN][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
2	chr2:99090600-99107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:99090800-99108000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:99095000-99107200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:99096800-99113600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:99097400-99110400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:99098400-99115200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:99100000-99111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:99100200-99110400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:99100400-99121600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:99100600-99110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:99101000-99107600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:99101000-99115200	Weak transcription	Fetal Lung	lung
14	chr2:99101600-99111200	Weak transcription	Fetal Brain Female	brain
15	chr2:99101600-99121200	Weak transcription	Gastric	stomach
16	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:99101800-99108400	Weak transcription	A549	lung
18	chr2:99102000-99107600	Weak transcription	Dnd41	blood
19	chr2:99102200-99122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:99102600-99107600	Enhancers	Brain Anterior Caudate	brain
21	chr2:99103200-99107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:99103200-99113200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:99103400-99107600	Weak transcription	Esophagus	oesophagus
24	chr2:99103400-99110000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:99103400-99115200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:99103600-99113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:99103600-99118400	Weak transcription	HSMMtube	muscle
28	chr2:99104000-99107800	Enhancers	Fetal Thymus	thymus
29	chr2:99104000-99108000	Enhancers	Thymus	Thymus
30	chr2:99104000-99108400	Enhancers	Left Ventricle	heart
31	chr2:99104000-99109200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:99104000-99118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:99104200-99107200	Enhancers	Lung	lung
34	chr2:99104200-99108200	Enhancers	Brain Hippocampus Middle	brain
35	chr2:99104400-99107800	Enhancers	Colon Smooth Muscle	Colon
36	chr2:99104400-99108800	Weak transcription	NHDF-Ad	bronchial
37	chr2:99104400-99110600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:99104600-99108000	Enhancers	Right Atrium	heart
39	chr2:99104600-99109000	Weak transcription	Osteobl	bone
40	chr2:99104600-99110600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:99104800-99107600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:99104800-99108400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:99105000-99107200	Genic enhancers	GM12878-XiMat	blood
44	chr2:99105000-99108000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:99105000-99108400	Genic enhancers	Primary T cells from cord blood	blood
46	chr2:99105000-99110600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:99105000-99110600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:99105000-99110600	Weak transcription	K562	blood
49	chr2:99105200-99107400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:99105200-99110800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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