Variant report

Variant	rs34457379
Chromosome Location	chr5:177033861-177033862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177033594-177034012	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr5:177033590-177034008	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:177033377-177033909	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr5:177033526-177033961	GM12892	blood:	n/a	n/a
5	POLR2A	chr5:177033844-177033958	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:177033316-177035163	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177032232..177035500-chr5:177036959..177040383,4	MCF-7	breast:
2	chr5:176956411..176959314-chr5:177032999..177035750,2	K562	blood:
3	chr5:176942970..176944777-chr5:177033617..177035543,2	MCF-7	breast:
4	chr5:176829222..176832099-chr5:177033371..177036238,2	K562	blood:

No data

Variant related genes	Relation type
B4GALT7	TF binding region
ENSG00000247679	TF binding region
ENSG00000183258	Chromatin interaction
ENSG00000131187	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000247679	Chromatin interaction
ENSG00000198055	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11537644	0.82[ASN][1000 genomes]
rs12515264	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12515554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13169820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13175194	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13175367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13185565	0.90[EUR][1000 genomes]
rs13187467	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs189243	0.84[ASN][1000 genomes]
rs28499263	0.83[ASN][1000 genomes]
rs28587776	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28693973	0.84[ASN][1000 genomes]
rs2878523	0.80[EUR][1000 genomes]
rs337341	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs337362	0.84[ASN][1000 genomes]
rs34582406	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34708092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34857879	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36092039	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs364970	0.84[ASN][1000 genomes]
rs366470	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs461163	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62398479	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72815179	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7718106	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs834549	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34457379	B4GALT7	cis	Whole Blood	GTEx
rs34457379	FAM153C	cis	Esophagus Muscularis	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177028000-177034200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:177028000-177034200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:177028000-177040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:177028200-177034200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:177028200-177034400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:177028200-177035600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:177028200-177036400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:177028200-177038000	Weak transcription	Right Atrium	heart
9	chr5:177028400-177034000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:177028400-177034000	Weak transcription	A549	lung
11	chr5:177028400-177034200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:177028400-177034200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:177028400-177034800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:177028400-177036600	Weak transcription	HMEC	breast
15	chr5:177028400-177040200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:177028400-177042600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:177028400-177044800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:177028400-177045800	Weak transcription	Left Ventricle	heart
19	chr5:177028400-177045800	Weak transcription	Psoas Muscle	Psoas
20	chr5:177028400-177048400	Weak transcription	NH-A	brain
21	chr5:177028600-177034000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:177028600-177034000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:177028600-177034200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:177028600-177034200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:177028600-177034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:177028600-177034400	Weak transcription	Fetal Thymus	thymus
27	chr5:177028600-177034600	Weak transcription	Fetal Kidney	kidney
28	chr5:177028600-177034800	Weak transcription	NHEK	skin
29	chr5:177028600-177041200	Weak transcription	Fetal Lung	lung
30	chr5:177028600-177046400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:177028600-177049000	Weak transcription	HUVEC	blood vessel
32	chr5:177028600-177053200	Weak transcription	HSMM	muscle
33	chr5:177028800-177034000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:177028800-177034000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:177028800-177044600	Weak transcription	GM12878-XiMat	blood
36	chr5:177029000-177034000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:177029000-177034200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:177029000-177034200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:177029000-177034200	Weak transcription	Fetal Brain Male	brain
40	chr5:177029000-177034200	Strong transcription	Fetal Intestine Small	intestine
41	chr5:177029000-177034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:177029000-177054200	Weak transcription	Brain Substantia Nigra	brain
43	chr5:177029200-177034200	Weak transcription	HepG2	liver
44	chr5:177029200-177045600	Weak transcription	Brain Angular Gyrus	brain
45	chr5:177029400-177034000	Strong transcription	Fetal Stomach	stomach
46	chr5:177029400-177034400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:177029600-177034200	Weak transcription	Gastric	stomach
48	chr5:177029600-177034200	Weak transcription	Ovary	ovary
49	chr5:177029800-177034200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:177029800-177034200	Weak transcription	Pancreas	Pancrea

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