Variant report

Variant	rs2306761
Chromosome Location	chr5:176958397-176958398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:176956411..176959314-chr5:177032999..177035750,2	K562	blood:
2	chr5:176777530..176779526-chr5:176956819..176958808,2	MCF-7	breast:
3	chr5:176943048..176944978-chr5:176957234..176960149,2	MCF-7	breast:
4	chr5:176951894..176954394-chr5:176956734..176959532,2	MCF-7	breast:
5	chr5:176955719..176959577-chr5:176964449..176968191,4	K562	blood:
6	chr5:176946421..176948274-chr5:176956521..176958507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146067	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000169223	Chromatin interaction
ENSG00000183258	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1422268	0.80[CHB][hapmap]
rs2279398	0.85[MEX][hapmap];0.85[AMR][1000 genomes]
rs2544811	1.00[CEU][hapmap]
rs2731663	1.00[CEU][hapmap]
rs35111726	1.00[YRI][hapmap]
rs60700381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	nsv883161	chr5:176754722-176958397	Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	esv1816147	chr5:176787037-176966509	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv883177	chr5:176868358-177003616	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv5147	chr5:176938196-176983018	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2306761	B4GALT7	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176944800-176963400	Weak transcription	Right Atrium	heart
2	chr5:176944800-176972800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:176946000-176966200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:176946000-176968000	Strong transcription	Fetal Thymus	thymus
5	chr5:176946000-176970000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:176946200-176966200	Strong transcription	Fetal Brain Female	brain
7	chr5:176946200-176966200	Strong transcription	Fetal Intestine Small	intestine
8	chr5:176946200-176966800	Strong transcription	Fetal Stomach	stomach
9	chr5:176946200-176968000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:176946200-176969800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:176946200-176970200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:176946200-176971000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:176946400-176960200	Strong transcription	Aorta	Aorta
14	chr5:176946400-176961200	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr5:176946400-176964000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr5:176946400-176964200	Strong transcription	A549	lung
17	chr5:176946400-176965000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:176946400-176966200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:176946400-176966800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:176946400-176966800	Strong transcription	Fetal Lung	lung
21	chr5:176946400-176969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:176946400-176970000	Strong transcription	Thymus	Thymus
23	chr5:176946600-176960800	Strong transcription	Liver	Liver
24	chr5:176946600-176961800	Strong transcription	Colon Smooth Muscle	Colon
25	chr5:176946600-176962400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:176946600-176963000	Strong transcription	Colonic Mucosa	Colon
27	chr5:176946600-176963800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:176946600-176963800	Strong transcription	Osteobl	bone
29	chr5:176946600-176965200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:176946600-176966400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:176946600-176966600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr5:176946600-176966800	Strong transcription	Fetal Intestine Large	intestine
33	chr5:176946600-176969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:176946800-176963400	Strong transcription	Placenta	Placenta
35	chr5:176946800-176963600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:176946800-176963800	Strong transcription	NHLF	lung
37	chr5:176946800-176967600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:176946800-176977200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:176947000-176966200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:176947000-176979000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:176947200-176963400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:176947400-176966200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:176948000-176968000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:176948200-176966200	Strong transcription	Brain Germinal Matrix	brain
45	chr5:176948200-176967000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:176948200-176969600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:176948400-176961200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr5:176948400-176961200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr5:176948600-176961200	Strong transcription	Brain Angular Gyrus	brain
50	chr5:176948600-176965000	Strong transcription	Brain Hippocampus Middle	brain

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