Variant report

Variant	rs34965256
Chromosome Location	chr5:43289237-43289238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43284787-43292154	K562	blood:	n/a	n/a
2	POLR2A	chr5:43284759-43289759	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:43285561-43289251	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:43288428-43289279	PBDE	blood:	n/a	n/a
5	POLR2A	chr5:43284900-43292074	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:43288259-43289358	H1-hESC	embryonic stem cell:	n/a	n/a
7	MBD4	chr5:43289089-43289483	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:43288431-43289406	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43065277..43067135-chr5:43287276..43290196,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114947.1.1-1	chr5:43287703-43289827	ENSG00000261604.1
2	lnc-HMGCS1-1	chr5:43287801-43289456	NONHSAT101304

No data

Variant related genes	Relation type
ENSG00000261604	TF binding region
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10462049	1.00[EUR][1000 genomes]
rs10941618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13154319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155023	1.00[AMR][1000 genomes]
rs13155622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13165339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13167052	1.00[AMR][1000 genomes]
rs13168456	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13169908	1.00[AMR][1000 genomes]
rs13174298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186439	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2290994	0.94[ASN][1000 genomes]
rs34150414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34238140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34379498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34497448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34880892	1.00[AMR][1000 genomes]
rs34937112	0.89[ASN][1000 genomes]
rs35033162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35142013	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35350677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35748848	1.00[AMR][1000 genomes]
rs35756093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36036217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36062172	1.00[AMR][1000 genomes]
rs36097388	1.00[AMR][1000 genomes]
rs3797152	1.00[AMR][1000 genomes]
rs3806871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71590642	1.00[AMR][1000 genomes]
rs71627597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627599	1.00[AMR][1000 genomes]
rs71627600	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71629106	1.00[AMR][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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
4	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43282800-43292800	Weak transcription	Hela-S3	cervix
2	chr5:43284200-43294000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:43284200-43309400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43285000-43291400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:43285000-43291400	Weak transcription	Osteobl	bone
6	chr5:43285000-43293400	Weak transcription	Pancreas	Pancrea
7	chr5:43285000-43300800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:43285200-43294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:43285400-43290400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:43285400-43291600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:43285400-43291600	Weak transcription	Fetal Kidney	kidney
12	chr5:43285400-43292000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:43285400-43292600	Weak transcription	Fetal Brain Male	brain
14	chr5:43285600-43290200	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:43285600-43291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:43285600-43293400	Weak transcription	Colonic Mucosa	Colon
17	chr5:43285600-43300000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:43285600-43302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:43285600-43302800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr5:43285800-43291800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:43286200-43291600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:43286200-43295600	Strong transcription	HSMMtube	muscle
23	chr5:43286200-43298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:43286200-43300600	Strong transcription	Fetal Intestine Large	intestine
25	chr5:43286400-43289600	Strong transcription	Fetal Brain Female	brain
26	chr5:43286400-43290400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:43286400-43290400	Weak transcription	Ovary	ovary
28	chr5:43286400-43291200	Strong transcription	NHLF	lung
29	chr5:43286400-43302200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:43286400-43302400	Strong transcription	GM12878-XiMat	blood
31	chr5:43286600-43291800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:43286600-43293200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:43286600-43293200	Strong transcription	Brain Substantia Nigra	brain
34	chr5:43286600-43296400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:43286600-43300400	Strong transcription	Fetal Thymus	thymus
36	chr5:43286600-43300800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:43286600-43301000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:43286600-43301400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:43286600-43303000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:43286600-43303000	Strong transcription	Primary hematopoietic stem cells	blood
41	chr5:43286800-43289400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:43286800-43289400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:43286800-43291600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:43286800-43294200	Strong transcription	NHDF-Ad	bronchial
45	chr5:43286800-43294400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:43286800-43294600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:43286800-43294600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:43286800-43297000	Strong transcription	Liver	Liver
49	chr5:43286800-43297400	Strong transcription	Dnd41	blood
50	chr5:43286800-43300000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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