Variant report

Variant	rs1723849
Chromosome Location	chr11:73459025-73459026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73457050..73459367-chr11:73470516..73473571,4	K562	blood:
2	chr11:73458899..73465006-chr11:73467540..73472378,9	K562	blood:
3	chr11:73458119..73460302-chr11:73461277..73464181,2	K562	blood:

Variant related genes	Relation type
ENSG00000175582	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10898944	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11235903	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12293194	0.86[AFR][1000 genomes]
rs1466218	0.93[YRI][hapmap]
rs1525750	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1525751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1618529	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs1621654	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1624231	0.88[AMR][1000 genomes]
rs1670548	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1670553	0.93[YRI][hapmap]
rs1670560	0.93[YRI][hapmap]
rs1670561	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs1670571	0.86[YRI][hapmap]
rs1723834	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1723838	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1723839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723844	1.00[ASW][hapmap];0.88[CEU][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723845	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1723846	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]
rs17310409	0.86[CEU][hapmap]
rs1792157	0.88[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1792164	0.87[CEU][hapmap];0.93[YRI][hapmap]
rs1792186	0.93[YRI][hapmap]
rs1792195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792202	0.92[YRI][hapmap]
rs1880642	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1880643	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1976914	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2008722	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap]
rs2037706	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs2037709	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2056649	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2366944	0.92[EUR][1000 genomes]
rs2444600	0.82[AFR][1000 genomes]
rs2462617	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2511262	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs2511263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2511265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2511269	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2511275	0.93[YRI][hapmap]
rs2512633	0.84[LWK][hapmap]
rs2515091	0.85[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2515095	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs2886812	0.93[YRI][hapmap]
rs4548648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4551800	0.83[AFR][1000 genomes]
rs4944026	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4944027	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4944030	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4944854	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs4944857	0.92[EUR][1000 genomes]
rs4944859	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4944860	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4944864	0.98[EUR][1000 genomes]
rs4944865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs594814	0.89[ASW][hapmap];0.85[LWK][hapmap]
rs610280	1.00[ASW][hapmap]
rs652229	1.00[ASW][hapmap]
rs6592528	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs6592529	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7108695	1.00[CEU][hapmap]
rs7396121	0.92[EUR][1000 genomes]
rs7932364	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs7942515	0.92[EUR][1000 genomes]
rs7950472	0.86[AFR][1000 genomes]
rs935989	0.93[YRI][hapmap]
rs940831	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9634024	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
2	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
3	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
4	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
5	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:73430000-73460800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:73430600-73460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:73430600-73462800	Weak transcription	HMEC	breast
10	chr11:73430600-73468800	Weak transcription	NHLF	lung
11	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:73432000-73460600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:73432000-73460600	Weak transcription	Placenta	Placenta
14	chr11:73432000-73462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:73432000-73465200	Weak transcription	NHEK	skin
17	chr11:73436600-73460600	Weak transcription	Small Intestine	intestine
18	chr11:73436800-73461000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:73437000-73461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:73441200-73462800	Weak transcription	Fetal Thymus	thymus
23	chr11:73441200-73464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:73441200-73468600	Weak transcription	Dnd41	blood
25	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:73441800-73462600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:73442200-73469600	Weak transcription	HSMM	muscle
28	chr11:73442400-73461600	Weak transcription	HUVEC	blood vessel
29	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
30	chr11:73442600-73460800	Weak transcription	Pancreas	Pancrea
31	chr11:73446400-73468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:73446400-73468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:73446600-73468800	Weak transcription	NHDF-Ad	bronchial
34	chr11:73446800-73462600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:73446800-73468400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:73447000-73462600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:73447000-73463800	Weak transcription	NH-A	brain
38	chr11:73447800-73463200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:73448200-73462400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:73448200-73468600	Weak transcription	GM12878-XiMat	blood
41	chr11:73448400-73461400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr11:73448600-73460000	Weak transcription	Lung	lung
43	chr11:73448600-73460800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:73448600-73462200	Weak transcription	Thymus	Thymus
45	chr11:73448800-73461000	Weak transcription	Adipose Nuclei	Adipose
46	chr11:73448800-73461200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:73448800-73462400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:73448800-73462600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:73448800-73462600	Weak transcription	Primary T cells from cord blood	blood
50	chr11:73448800-73462800	Weak transcription	Muscle Satellite Cultured Cells	--

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