Variant report

Variant	rs3738334
Chromosome Location	chr1:161695221-161695222
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161474965..161476524-chr1:161694397..161697249,2	K562	blood:
2	chr1:161694367..161698874-chr1:161718174..161721030,6	MCF-7	breast:
3	chr1:161474965..161477021-chr1:161694558..161697249,2	K562	blood:

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction
ENSG00000143226	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12079477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12729592	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67476681	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161689000-161695400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:161689000-161695600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:161692200-161695400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:161692200-161695400	Weak transcription	A549	lung
5	chr1:161692200-161695600	Enhancers	K562	blood
6	chr1:161692400-161695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:161692400-161695400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:161692400-161695400	Weak transcription	HUVEC	blood vessel
9	chr1:161692400-161695400	Weak transcription	NH-A	brain
10	chr1:161692400-161695600	Weak transcription	Gastric	stomach
11	chr1:161692600-161695400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:161692600-161695400	Weak transcription	NHLF	lung
13	chr1:161692600-161695600	Weak transcription	HSMMtube	muscle
14	chr1:161693800-161695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:161693800-161695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:161693800-161695400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:161693800-161695600	Enhancers	NHDF-Ad	bronchial
18	chr1:161694000-161695400	Weak transcription	HMEC	breast
19	chr1:161694000-161695400	Weak transcription	NHEK	skin
20	chr1:161694600-161695400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:161694600-161695400	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:161694600-161695400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:161694600-161695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:161694600-161695400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:161694600-161695600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:161694800-161695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:161694800-161695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:161694800-161695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:161694800-161695400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:161695000-161695400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:161695000-161695400	Enhancers	Primary B cells from cord blood	blood
32	chr1:161695000-161695400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr1:161695000-161695400	Enhancers	Brain Germinal Matrix	brain
34	chr1:161695000-161695600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:161695000-161695600	Enhancers	Colon Smooth Muscle	Colon
36	chr1:161695000-161695600	Enhancers	Esophagus	oesophagus
37	chr1:161695000-161696000	Enhancers	Spleen	Spleen
38	chr1:161695200-161695400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:161695200-161695400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:161695200-161695400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:161695200-161695400	Enhancers	Brain Substantia Nigra	brain
42	chr1:161695200-161695400	Active TSS	Fetal Brain Female	brain
43	chr1:161695200-161695400	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr1:161695200-161695400	Enhancers	Osteobl	bone
45	chr1:161695200-161695600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:161695200-161695600	Enhancers	Liver	Liver
47	chr1:161695200-161695600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr1:161695200-161695800	Flanking Active TSS	GM12878-XiMat	blood

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