Variant report

Variant	rs1295390
Chromosome Location	chr6:119674904-119674905
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:119674903-119675270	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:119674741-119674956	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119673474..119675079-chr6:119676928..119679552,2	K562	blood:
2	chr6:119674592..119677137-chr6:119682701..119685226,2	K562	blood:
3	chr6:119668152..119672285-chr6:119673337..119678807,6	MCF-7	breast:
4	chr6:119674592..119678182-chr6:119682701..119685453,4	K562	blood:
5	chr6:119668881..119671932-chr6:119672214..119675857,4	MCF-7	breast:

No data

Variant related genes	Relation type
MAN1A1	TF binding region
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11153813	0.97[ASN][1000 genomes]
rs12664079	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1295374	0.82[AFR][1000 genomes]
rs1295375	0.82[AFR][1000 genomes]
rs1295379	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1295380	0.80[YRI][hapmap]
rs1295386	0.85[ASN][1000 genomes]
rs1295394	0.82[AFR][1000 genomes]
rs1797064	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195062	0.80[ASN][1000 genomes]
rs195063	0.89[ASN][1000 genomes]
rs195076	0.89[ASN][1000 genomes]
rs195078	0.80[ASN][1000 genomes]
rs195079	0.80[ASN][1000 genomes]
rs195081	0.89[ASN][1000 genomes]
rs195083	0.80[ASN][1000 genomes]
rs195085	0.84[ASN][1000 genomes]
rs195086	0.92[ASN][1000 genomes]
rs4946409	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6569074	0.86[ASN][1000 genomes]
rs6569075	0.87[ASN][1000 genomes]
rs6921356	0.84[ASN][1000 genomes]
rs6924723	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7765368	1.00[CEU][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7773367	0.84[ASN][1000 genomes]
rs9372529	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9387646	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9401139	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv1802628	chr6:119647135-119678881	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119671800-119689200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:119672000-119675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:119672200-119675000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:119672400-119675600	Enhancers	Fetal Kidney	kidney
5	chr6:119672400-119675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:119672400-119676200	Enhancers	Primary B cells from cord blood	blood
7	chr6:119673400-119676000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:119673400-119676200	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:119673400-119677200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:119673400-119678200	Weak transcription	NHDF-Ad	bronchial
11	chr6:119673400-119690000	Weak transcription	K562	blood
12	chr6:119673600-119675400	Enhancers	Dnd41	blood
13	chr6:119673600-119680800	Weak transcription	Fetal Heart	heart
14	chr6:119673600-119687200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:119674000-119675400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:119674400-119675200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:119674400-119675200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:119674400-119675200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:119674400-119675200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:119674400-119675200	Enhancers	Brain Anterior Caudate	brain
21	chr6:119674400-119675400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:119674400-119675400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:119674400-119675400	Flanking Active TSS	GM12878-XiMat	blood
24	chr6:119674400-119675600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:119674400-119676000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:119674400-119676000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:119674400-119677600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:119674600-119675200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr6:119674600-119675400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:119674600-119675400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:119674600-119677000	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:119674800-119675000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:119674800-119675000	Enhancers	Adipose Nuclei	Adipose
34	chr6:119674800-119675600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:119674800-119676400	Enhancers	Pancreatic Islets	Pancreatic Islet

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