Variant report

Variant	rs386006
Chromosome Location	chr2:9982608-9982609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:9982216-9985161	SK-N-SH	brain:	n/a	n/a
2	MYC	chr2:9982586-9984616	A549	lung:	n/a	chr2:9984044-9984054
3	MAZ	chr2:9982484-9984785	IMR90	lung:	n/a	chr2:9984772-9984781 chr2:9984044-9984054
4	POLR2A	chr2:9982558-9985041	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:9982538-9985060	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:9982548-9984288	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:9981740..9985209-chr2:10182518..10185707,4	K562	blood:
2	chr2:9981933..9984802-chr2:10182812..10185710,3	K562	blood:
3	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
4	chr2:9982517..9985169-chr2:10586715..10588876,2	K562	blood:
5	chr2:9901947..9904351-chr2:9980319..9983166,2	K562	blood:
6	chr2:9945778..9947307-chr2:9981778..9983371,2	K562	blood:
7	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
8	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
9	chr2:9981748..9983787-chr2:10179341..10181254,2	K562	blood:

No data

Variant related genes	Relation type
TAF1B	TF binding region
ENSG00000172059	Chromatin interaction
ENSG00000260077	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12612554	1.00[ASW][hapmap];0.82[AFR][1000 genomes]
rs1652684	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs287984	0.89[MKK][hapmap]
rs287985	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs287998	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs288000	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs288001	0.80[AFR][1000 genomes]
rs379396	0.82[AFR][1000 genomes]
rs385513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs393281	0.92[ASW][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs394952	0.86[AFR][1000 genomes]
rs396190	0.82[AFR][1000 genomes]
rs396416	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs400098	0.92[ASW][hapmap]
rs403303	1.00[ASW][hapmap];0.85[AFR][1000 genomes]
rs406546	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs417748	0.82[AFR][1000 genomes]
rs419453	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs446907	0.85[AFR][1000 genomes]
rs448327	1.00[ASW][hapmap];0.84[LWK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs6744203	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873627	chr2:9949464-9982608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv873628	chr2:9949464-9985670	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
8	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9955200-9983000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:9972600-9983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:9977000-9983000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:9977200-9983000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:9977200-9983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:9977600-9983000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:9977600-9983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:9977600-9983000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:9977800-9982800	Weak transcription	NHDF-Ad	bronchial
10	chr2:9977800-9983000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:9977800-9983000	Weak transcription	NHLF	lung
12	chr2:9978000-9982800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:9978000-9983000	Weak transcription	NHEK	skin
14	chr2:9979400-9982800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:9979800-9983000	Weak transcription	Placenta	Placenta
16	chr2:9981200-9983000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:9981600-9983000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:9982400-9982800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:9982600-9982800	Bivalent Enhancer	HepG2	liver
20	chr2:9982600-9982800	Flanking Active TSS	K562	blood
21	chr2:9982600-9982800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:9982600-9983000	Enhancers	Hela-S3	cervix
23	chr2:9982600-9983200	Flanking Active TSS	A549	lung
24	chr2:9982600-9983400	Flanking Active TSS	Dnd41	blood
25	chr2:9982600-9984200	Active TSS	Duodenum Smooth Muscle	Duodenum

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