Variant report

Variant	rs3759397
Chromosome Location	chr12:120705466-120705467
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
2	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
3	chr12:120553785..120557408-chr12:120702135..120705915,4	K562	blood:
4	chr12:120703812..120708110-chr12:120710658..120713817,5	MCF-7	breast:
5	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
6	chr12:120686978..120689816-chr12:120703862..120706218,2	K562	blood:
7	chr12:120704439..120706873-chr12:120717613..120720324,2	MCF-7	breast:
8	chr12:120636814..120640513-chr12:120703939..120707132,3	K562	blood:
9	chr12:120549747..120553515-chr12:120703925..120705527,3	K562	blood:
10	chr12:120629843..120633670-chr12:120702168..120705891,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111737	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10849739	0.80[CHB][hapmap];0.85[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065028	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11065061	0.94[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065064	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1151824	0.98[EUR][1000 genomes]
rs1151825	0.98[EUR][1000 genomes]
rs1151827	0.98[EUR][1000 genomes]
rs1151830	0.94[EUR][1000 genomes]
rs1151832	0.98[EUR][1000 genomes]
rs1151837	0.98[EUR][1000 genomes]
rs1182860	0.98[EUR][1000 genomes]
rs11831552	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1183781	0.85[CEU][hapmap];0.98[EUR][1000 genomes]
rs12164847	0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12305146	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12308431	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12321884	0.83[AMR][1000 genomes]
rs12581983	0.84[AMR][1000 genomes]
rs1634814	0.98[EUR][1000 genomes]
rs1634815	0.98[EUR][1000 genomes]
rs2006194	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2238155	0.86[YRI][hapmap]
rs2238156	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2238157	0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2239208	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240315	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2269940	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs2283364	0.83[AMR][1000 genomes]
rs2283365	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2286044	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2524391	0.98[EUR][1000 genomes]
rs3888587	0.94[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3888588	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3890165	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3956833	0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767886	0.94[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61198412	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7300273	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs739809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953949	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966099	0.94[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	nsv560436	chr12:120697470-120705828	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120704000-120705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:120704000-120705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:120704000-120705600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:120704000-120705600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:120704000-120705600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:120704000-120705800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:120704000-120706400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:120704000-120706800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:120704000-120721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:120704200-120705600	Enhancers	HepG2	liver
11	chr12:120704400-120705600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:120704400-120705600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:120704400-120705600	Weak transcription	Hela-S3	cervix
14	chr12:120704400-120714400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:120704600-120705600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:120704600-120714200	Weak transcription	Placenta	Placenta
17	chr12:120705000-120706600	Enhancers	Fetal Intestine Large	intestine
18	chr12:120705000-120706800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:120705200-120706000	Enhancers	Fetal Lung	lung
20	chr12:120705200-120706200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:120705200-120706400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:120705200-120706400	Enhancers	Liver	Liver
23	chr12:120705200-120706400	Enhancers	Colonic Mucosa	Colon
24	chr12:120705200-120706400	Enhancers	HUVEC	blood vessel
25	chr12:120705200-120706800	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:120705400-120705600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:120705400-120705600	Enhancers	Brain Angular Gyrus	brain
28	chr12:120705400-120705800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:120705400-120705800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr12:120705400-120706000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:120705400-120706000	Enhancers	Fetal Stomach	stomach
32	chr12:120705400-120706400	Enhancers	Fetal Intestine Small	intestine
33	chr12:120705400-120706800	Enhancers	Stomach Mucosa	stomach

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