Variant report

Variant	rs7306035
Chromosome Location	chr12:50433003-50433004
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50432668..50433755-chr12:50463906..50464936,5	K562	blood:
2	chr12:50431106..50433280-chr12:50450114..50452856,2	K562	blood:
3	chr12:50260640..50261252-chr12:50432739..50433258,2	MCF-7	breast:
4	chr12:50432660..50433175-chr12:50444120..50444802,2	K562	blood:
5	chr12:50431118..50433234-chr12:50455949..50458611,2	MCF-7	breast:
6	chr12:50432267..50433602-chr12:50463821..50464865,8	MCF-7	breast:
7	chr12:50360668..50362580-chr12:50431089..50434007,2	MCF-7	breast:
8	chr12:50432725..50434312-chr12:50449330..50450437,10	MCF-7	breast:
9	chr12:50432739..50435190-chr12:50449417..50450489,14	K562	blood:
10	chr12:50432763..50433687-chr12:50449544..50450364,3	MCF-7	breast:
11	chr12:50431093..50436094-chr12:50443171..50446761,5	K562	blood:
12	chr12:50431684..50433280-chr12:50450246..50452856,2	K562	blood:
13	chr12:50432705..50433219-chr12:50446975..50447614,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000086159	Chromatin interaction
ENSG00000110881	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10161020	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10161120	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875992	0.96[EUR][1000 genomes]
rs10875993	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169232	0.86[EUR][1000 genomes]
rs11169234	0.92[EUR][1000 genomes]
rs11169247	0.94[EUR][1000 genomes]
rs11169256	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169259	0.94[EUR][1000 genomes]
rs11169260	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11836389	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12298110	0.96[EUR][1000 genomes]
rs12311010	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12317586	0.90[EUR][1000 genomes]
rs17124264	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2291612	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2292720	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs378943	0.92[EUR][1000 genomes]
rs4297542	0.96[EUR][1000 genomes]
rs55634523	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55652312	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55802497	0.96[EUR][1000 genomes]
rs55936104	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55990533	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56099252	0.94[EUR][1000 genomes]
rs56159935	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56232366	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56259551	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57014171	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57045365	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60000653	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60042968	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60456498	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60905953	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs611434	0.90[EUR][1000 genomes]
rs615382	0.92[EUR][1000 genomes]
rs629754	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs694851	0.89[EUR][1000 genomes]
rs7131715	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7303531	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7308994	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7309480	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7309940	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7309966	0.96[EUR][1000 genomes]
rs73119648	0.81[AMR][1000 genomes]
rs73119651	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119660	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73119664	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73119671	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73119681	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73119688	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73119690	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7961683	0.96[EUR][1000 genomes]
rs7972522	0.96[EUR][1000 genomes]
rs7979958	0.96[EUR][1000 genomes]
rs9325146	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9669608	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
5	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
7	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50427000-50434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:50428000-50433400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:50430400-50433400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50431800-50433200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:50432000-50433400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:50432400-50434000	Enhancers	NHEK	skin
7	chr12:50432600-50434400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:50432600-50434800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:50432600-50438000	Enhancers	K562	blood
10	chr12:50432800-50433200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:50432800-50433400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:50432800-50433400	Enhancers	HMEC	breast
13	chr12:50432800-50433600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:50432800-50433800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:50432800-50433800	Enhancers	NH-A	brain
16	chr12:50432800-50434000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:50432800-50434200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:50433000-50433400	Enhancers	Fetal Thymus	thymus
19	chr12:50433000-50433400	Enhancers	Spleen	Spleen
20	chr12:50433000-50433600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr12:50433000-50433800	Enhancers	Fetal Intestine Small	intestine
22	chr12:50433000-50433800	Enhancers	Stomach Mucosa	stomach
23	chr12:50433000-50434000	Weak transcription	Fetal Heart	heart
24	chr12:50433000-50434200	Enhancers	Fetal Stomach	stomach
25	chr12:50433000-50434400	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:50433000-50435400	Enhancers	Placenta	Placenta

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