Variant report

Variant	rs6668731
Chromosome Location	chr1:156354293-156354294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:156353832-156354601	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:156353543-156358888	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:156354151-156354576	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:156353695..156354462-chr1:156414341..156414857,2	MCF-7	breast:
2	chr1:156351935..156356814-chr1:156357116..156361846,4	MCF-7	breast:
3	chr1:156353856..156355497-chr1:156408639..156410437,2	MCF-7	breast:
4	chr1:156353973..156356969-chr1:156359143..156362036,2	MCF-7	breast:
5	chr1:156341941..156343974-chr1:156352114..156354913,2	K562	blood:
6	chr1:156353012..156356509-chr1:156369075..156371799,3	K562	blood:
7	chr1:156351422..156354459-chr1:156356280..156359051,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf182-1	chr1:156354232-156354395	NONHSAT006846

No data

Variant related genes	Relation type
ENSG00000237390	TF binding region
ENSG00000237390	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3790462	0.80[CHB][hapmap]
rs4618959	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6668419	0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs867921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs954916	0.80[CHB][hapmap]

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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases
3	nsv915822	chr1:156226286-156651655	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
4	nsv872471	chr1:156287360-156356480	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv470742	chr1:156335111-156354367	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1793632	chr1:156338992-156366178	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
7	nsv1005335	chr1:156347358-156905648	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	395 gene(s)	inside rSNPs	diseases
8	nsv1004910	chr1:156347358-157258223	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	430 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156339600-156358000	Weak transcription	Right Atrium	heart
2	chr1:156346000-156355000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:156346200-156354800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:156349800-156355000	Weak transcription	HSMM	muscle
5	chr1:156349800-156355600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:156349800-156355600	Weak transcription	A549	lung
7	chr1:156349800-156356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:156351200-156355600	Strong transcription	Fetal Intestine Small	intestine
9	chr1:156352600-156355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:156353000-156354800	Weak transcription	Fetal Intestine Large	intestine
11	chr1:156353200-156355000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:156353200-156355000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:156353200-156355600	Strong transcription	HepG2	liver
14	chr1:156353400-156355000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:156353400-156355000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:156353600-156355200	Weak transcription	Brain Anterior Caudate	brain
17	chr1:156353800-156354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:156353800-156354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:156353800-156354600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:156353800-156354600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:156353800-156356200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:156354000-156354800	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:156354200-156355000	Strong transcription	Ovary	ovary
24	chr1:156354200-156355200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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