Variant report

Variant	rs1723846
Chromosome Location	chr11:73499914-73499915
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
2	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
3	chr11:73497934..73501442-chr11:73586433..73589232,4	K562	blood:
4	chr11:73497415..73503223-chr11:73585602..73589591,8	K562	blood:
5	chr11:73497005..73500757-chr11:73586552..73589226,3	MCF-7	breast:
6	chr11:73460588..73463115-chr11:73499675..73501520,2	MCF-7	breast:
7	chr11:73497833..73499954-chr17:57783291..57785568,2	MCF-7	breast:
8	chr11:73499890..73502819-chr11:73563148..73564749,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000141378	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10898944	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11235903	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293194	0.86[AFR][1000 genomes]
rs1525750	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1525751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1618529	0.89[ASW][hapmap];0.92[LWK][hapmap]
rs1621654	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs1624231	0.88[AMR][1000 genomes]
rs1670548	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1670561	0.89[ASW][hapmap];0.92[LWK][hapmap]
rs1670571	0.86[YRI][hapmap]
rs1723834	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723838	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1723839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723842	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723844	0.89[ASW][hapmap];0.81[LWK][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723845	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1723849	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1792157	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1792195	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1792196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1880642	0.89[EUR][1000 genomes]
rs1880643	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes]
rs1976914	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2008722	0.81[ASW][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2037706	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2037709	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs2056649	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2366944	0.89[EUR][1000 genomes]
rs2444600	0.82[AFR][1000 genomes]
rs2462617	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511262	0.89[ASW][hapmap];0.92[LWK][hapmap]
rs2511263	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511265	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511269	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2512633	0.84[LWK][hapmap]
rs2515091	1.00[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2515095	0.89[ASW][hapmap];0.92[LWK][hapmap]
rs4548648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944026	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4944027	0.89[EUR][1000 genomes]
rs4944030	0.89[EUR][1000 genomes]
rs4944854	0.88[CEU][hapmap];0.86[YRI][hapmap]
rs4944857	0.89[EUR][1000 genomes]
rs4944859	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4944860	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs4944864	0.87[EUR][1000 genomes]
rs4944865	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs594814	0.85[LWK][hapmap]
rs610280	0.89[ASW][hapmap]
rs652229	0.89[ASW][hapmap]
rs6592528	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6592529	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes]
rs7101957	0.81[TSI][hapmap]
rs7108695	0.85[CEU][hapmap]
rs7396121	0.89[EUR][1000 genomes]
rs7932364	0.86[YRI][hapmap]
rs7942515	0.89[EUR][1000 genomes]
rs940831	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs9634024	0.88[CEU][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS 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 lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73498000-73500000	Active TSS	NHDF-Ad	bronchial
2	chr11:73498200-73500000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:73498200-73500000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:73498200-73500000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:73498200-73500000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:73498200-73500000	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:73498200-73500000	Active TSS	A549	lung
8	chr11:73498200-73500000	Active TSS	HMEC	breast
9	chr11:73498200-73500000	Active TSS	HSMMtube	muscle
10	chr11:73498200-73500200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:73498200-73500200	Active TSS	Colonic Mucosa	Colon
12	chr11:73498200-73500200	Active TSS	K562	blood
13	chr11:73498200-73500200	Active TSS	NHLF	lung
14	chr11:73498400-73500000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:73498400-73500000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:73498400-73500000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:73498400-73500000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:73498400-73500000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:73498400-73500000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:73498400-73500000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:73498400-73500000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:73498400-73500000	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:73498400-73500000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:73498400-73500000	Active TSS	Psoas Muscle	Psoas
25	chr11:73498400-73500000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:73498400-73500000	Active TSS	Right Ventricle	heart
27	chr11:73498400-73500000	Active TSS	GM12878-XiMat	blood
28	chr11:73498400-73500000	Active TSS	NH-A	brain
29	chr11:73498400-73500000	Active TSS	Osteobl	bone
30	chr11:73498400-73500200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:73498400-73500400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:73498600-73500000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:73498600-73500000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:73498600-73500000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:73498600-73500000	Active TSS	Brain Angular Gyrus	brain
36	chr11:73498600-73500000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:73498600-73500000	Active TSS	Fetal Muscle Leg	muscle
38	chr11:73498600-73500000	Active TSS	HSMM	muscle
39	chr11:73498800-73500000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:73498800-73500000	Active TSS	Adipose Nuclei	Adipose
41	chr11:73498800-73500000	Active TSS	Brain Anterior Caudate	brain
42	chr11:73498800-73500000	Active TSS	Brain Hippocampus Middle	brain
43	chr11:73498800-73500200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:73498800-73500400	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:73499200-73500000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr11:73499200-73500000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr11:73499400-73500000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:73499400-73500000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr11:73499400-73500000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:73499400-73500000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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