Variant report

Variant	rs6451672
Chromosome Location	chr5:43105065-43105066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43104046..43106053-chr5:43225175..43227426,2	K562	blood:
2	chr5:43094835..43097495-chr5:43104345..43107086,3	K562	blood:
3	chr5:43104380..43107131-chr5:43191908..43194454,2	MCF-7	breast:
4	chr5:43101457..43103139-chr5:43103471..43105686,2	K562	blood:
5	chr5:43063886..43069182-chr5:43103185..43107498,6	K562	blood:
6	chr5:43103922..43107081-chr5:43109659..43112265,3	MCF-7	breast:
7	chr5:43080895..43082640-chr5:43104421..43106273,2	K562	blood:
8	chr5:43080707..43082395-chr5:43104421..43106273,2	K562	blood:
9	chr5:43065537..43069012-chr5:43104381..43107425,4	K562	blood:
10	chr5:43103618..43114075-chr5:43115760..43123048,23	MCF-7	breast:
11	chr5:43103532..43105928-chr5:43118167..43121743,5	K562	blood:
12	chr5:43100915..43102957-chr5:43104186..43105960,2	K562	blood:
13	chr5:43078395..43080748-chr5:43104013..43106057,2	K562	blood:
14	chr5:43064858..43067113-chr5:43104450..43107448,3	MCF-7	breast:
15	chr5:43095711..43097819-chr5:43103481..43105400,3	K562	blood:
16	chr5:43083087..43086074-chr5:43102781..43107295,4	K562	blood:
17	chr5:43104984..43107316-chr5:43481507..43484344,2	MCF-7	breast:
18	chr5:43074046..43076584-chr5:43103613..43105462,2	K562	blood:
19	chr5:43103884..43105997-chr5:43119872..43121599,2	MCF-7	breast:
20	chr5:43065471..43068340-chr5:43104546..43107830,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177738	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000249888	Chromatin interaction
ENSG00000177453	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10044382	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10058350	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10058374	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10070751	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10074873	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10075647	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10076858	0.86[EUR][1000 genomes]
rs10214190	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10805667	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13176429	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13665	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1532330	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1532331	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34315422	0.81[ASN][1000 genomes]
rs34859360	0.81[ASN][1000 genomes]
rs36083302	0.81[ASN][1000 genomes]
rs4498259	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs479996	0.84[ASN][1000 genomes]
rs4866808	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4866971	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs541143	0.84[ASN][1000 genomes]
rs6414900	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6451674	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6451675	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6862639	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6864955	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6870418	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6876746	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6884303	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6894506	0.83[ASN][1000 genomes]
rs7712046	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7723426	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7730004	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
9	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases
10	nsv981009	chr5:43101558-43114874	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6451672	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43070000-43105400	Weak transcription	HSMMtube	muscle
2	chr5:43071800-43105400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:43075600-43105400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:43075600-43105400	Weak transcription	Psoas Muscle	Psoas
5	chr5:43075800-43105400	Weak transcription	Right Ventricle	heart
6	chr5:43075800-43105600	Weak transcription	Pancreas	Pancrea
7	chr5:43076200-43105400	Weak transcription	Brain Angular Gyrus	brain
8	chr5:43079400-43105400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:43080200-43105600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:43081000-43105600	Weak transcription	Brain Germinal Matrix	brain
11	chr5:43081200-43105400	Weak transcription	Brain Substantia Nigra	brain
12	chr5:43081200-43105400	Weak transcription	NHDF-Ad	bronchial
13	chr5:43081400-43105400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:43081400-43105400	Weak transcription	Brain Anterior Caudate	brain
15	chr5:43081400-43105400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:43081800-43105400	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:43081800-43105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:43082000-43105400	Weak transcription	Liver	Liver
19	chr5:43082400-43105400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:43084800-43105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:43084800-43105400	Weak transcription	Fetal Kidney	kidney
22	chr5:43085000-43105400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:43085000-43105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:43086000-43105200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:43086000-43105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:43086000-43106000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:43086400-43105400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:43091400-43105400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:43091600-43105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:43092200-43105400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:43092400-43105400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:43092800-43105200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:43092800-43105600	Weak transcription	Fetal Brain Male	brain
34	chr5:43093200-43105200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:43093200-43105600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:43093400-43105400	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:43093600-43105400	Weak transcription	Fetal Intestine Large	intestine
38	chr5:43093600-43105400	Weak transcription	Ovary	ovary
39	chr5:43093600-43105400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:43094000-43105400	Weak transcription	Adipose Nuclei	Adipose
41	chr5:43094000-43105400	Weak transcription	HSMM	muscle
42	chr5:43094200-43105200	Weak transcription	Placenta	Placenta
43	chr5:43094200-43105400	Weak transcription	Fetal Brain Female	brain
44	chr5:43094400-43105400	Weak transcription	Primary B cells from cord blood	blood
45	chr5:43096400-43105400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:43096600-43105600	Weak transcription	Aorta	Aorta
47	chr5:43097000-43105400	Weak transcription	Primary T cells from cord blood	blood
48	chr5:43097200-43105400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:43097600-43105400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:43098400-43105400	Weak transcription	Fetal Lung	lung

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