Variant report

Variant	rs913014
Chromosome Location	chr6:34501529-34501530
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34491359..34493717-chr6:34499044..34502529,3	K562	blood:
2	chr6:34203553..34206354-chr6:34501121..34502681,2	K562	blood:
3	chr6:34490944..34493717-chr6:34499736..34502529,2	K562	blood:
4	chr6:34493632..34501782-chr6:34512451..34525873,25	MCF-7	breast:
5	chr6:34495305..34497309-chr6:34500179..34501973,2	K562	blood:
6	chr6:34501160..34503078-chr6:34510332..34511859,2	K562	blood:
7	chr6:34500365..34503301-chr6:34563391..34565656,2	K562	blood:
8	chr6:34494049..34496847-chr6:34497897..34503319,6	K562	blood:
9	chr6:34494545..34497462-chr6:34498275..34503019,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137309	Chromatin interaction
ENSG00000124664	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3798548	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs3798550	0.84[ASN][1000 genomes]
rs3843523	0.89[ASN][1000 genomes]
rs6457781	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73746675	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised 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	49 gene(s)	inside rSNPs	diseases
6	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033325	chr6:34482287-34517857	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv885790	chr6:34483015-34542662	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1022555	chr6:34488209-34517003	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv1801907	chr6:34492567-34545860	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
18	nsv1026919	chr6:34495371-34517857	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv1016788	chr6:34496002-34529165	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs913014	MSL3	trans	lymphoblastoid	seeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34495000-34504000	Weak transcription	Fetal Brain Male	brain
2	chr6:34495400-34502000	Weak transcription	HSMMtube	muscle
3	chr6:34495400-34503000	Weak transcription	Brain Angular Gyrus	brain
4	chr6:34495400-34503800	Weak transcription	Brain Substantia Nigra	brain
5	chr6:34495400-34504200	Weak transcription	Left Ventricle	heart
6	chr6:34495400-34504600	Weak transcription	Right Atrium	heart
7	chr6:34495400-34506600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:34495800-34503000	Weak transcription	Brain Anterior Caudate	brain
9	chr6:34495800-34503800	Weak transcription	Fetal Lung	lung
10	chr6:34495800-34505200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:34498200-34503000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:34498200-34503000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:34498200-34503600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:34498200-34514200	Weak transcription	Right Ventricle	heart
15	chr6:34498400-34501800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:34498400-34502000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:34498400-34503600	Weak transcription	Colonic Mucosa	Colon
18	chr6:34498400-34503800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:34499000-34503400	Weak transcription	Gastric	stomach
20	chr6:34499200-34503000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:34499400-34504600	Weak transcription	K562	blood
22	chr6:34499600-34504200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:34500200-34503600	Weak transcription	Brain Germinal Matrix	brain
24	chr6:34500200-34503600	Weak transcription	Fetal Intestine Large	intestine
25	chr6:34500200-34504200	Weak transcription	Fetal Intestine Small	intestine
26	chr6:34500400-34503400	Weak transcription	Fetal Brain Female	brain
27	chr6:34500400-34504200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:34500400-34506800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:34500600-34504000	Weak transcription	Fetal Stomach	stomach
30	chr6:34500600-34513800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:34500800-34506600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:34501400-34501800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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