Variant report

Variant	rs1723834
Chromosome Location	chr11:73512648-73512649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73489641..73491887-chr11:73511276..73514152,2	K562	blood:
2	chr11:73498661..73502085-chr11:73508714..73512877,6	K562	blood:
3	chr11:73470881..73473807-chr11:73511817..73514528,2	MCF-7	breast:
4	chr11:73512514..73515151-chr11:73518195..73521069,2	MCF-7	breast:
5	chr11:73511685..73515231-chr11:73517225..73519787,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175582	Chromatin interaction
ENSG00000175581	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11235903	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12293194	0.86[AFR][1000 genomes]
rs1466218	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1525750	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs1525751	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1531001	0.83[AFR][1000 genomes]
rs1618529	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs1621654	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1623476	0.83[AFR][1000 genomes]
rs1670548	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670553	0.93[YRI][hapmap]
rs1670560	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1670561	1.00[ASW][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1670571	0.86[YRI][hapmap]
rs1723838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1723839	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723842	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723844	1.00[ASW][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723845	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723846	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]
rs1723849	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]
rs1792157	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792164	0.93[YRI][hapmap]
rs1792186	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1792195	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1792196	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1792197	0.83[AFR][1000 genomes]
rs1792202	0.92[YRI][hapmap]
rs1880642	0.85[EUR][1000 genomes]
rs1880643	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs1976914	1.00[EUR][1000 genomes]
rs2008722	0.90[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];0.85[EUR][1000 genomes]
rs2056649	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs2366944	0.85[EUR][1000 genomes]
rs2444600	0.86[AFR][1000 genomes]
rs2462617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511262	1.00[ASW][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs2511263	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2511265	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2511269	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511275	0.93[YRI][hapmap]
rs2515091	1.00[CEU][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515095	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs2886812	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs2924504	0.83[AFR][1000 genomes]
rs3019137	0.83[AFR][1000 genomes]
rs4548648	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944026	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4944027	0.85[EUR][1000 genomes]
rs4944030	0.85[EUR][1000 genomes]
rs4944854	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs4944857	0.85[EUR][1000 genomes]
rs4944859	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4944860	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4944864	0.83[EUR][1000 genomes]
rs4944865	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs594814	0.89[ASW][hapmap]
rs610280	1.00[ASW][hapmap]
rs627627	0.83[AFR][1000 genomes]
rs651833	0.83[AFR][1000 genomes]
rs652229	1.00[ASW][hapmap]
rs6592528	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6592529	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs7101957	0.81[TSI][hapmap]
rs7108695	0.85[CEU][hapmap]
rs7396121	0.85[EUR][1000 genomes]
rs7932364	1.00[YRI][hapmap]
rs7942515	0.85[EUR][1000 genomes]
rs935989	0.93[YRI][hapmap]
rs940831	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs9634024	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9651759	0.83[AFR][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
4	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:73500000-73516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:73500000-73518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:73500000-73519000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:73500000-73520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:73500000-73526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:73500200-73518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:73500200-73519200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:73500200-73526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:73500200-73528200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
15	chr11:73500400-73517600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:73500400-73537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
19	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
20	chr11:73500600-73516600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:73500600-73516800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:73500600-73519000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:73500600-73522000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:73500600-73528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:73500600-73549200	Weak transcription	Osteobl	bone
27	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
28	chr11:73500800-73524200	Weak transcription	A549	lung
29	chr11:73500800-73558800	Weak transcription	NHEK	skin
30	chr11:73503600-73532400	Weak transcription	Stomach Mucosa	stomach
31	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
32	chr11:73503800-73517000	Weak transcription	K562	blood
33	chr11:73504000-73517000	Weak transcription	Hela-S3	cervix
34	chr11:73507600-73518000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:73507600-73522000	Weak transcription	HSMM	muscle
36	chr11:73507800-73517000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:73507800-73521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:73508200-73529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
40	chr11:73508600-73516800	Weak transcription	Primary B cells from cord blood	blood
41	chr11:73508800-73516200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:73508800-73516800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:73508800-73516800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:73508800-73516800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:73508800-73517000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:73508800-73517000	Weak transcription	Fetal Brain Female	brain
47	chr11:73508800-73517200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:73508800-73519400	Weak transcription	Thymus	Thymus
49	chr11:73508800-73522000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:73508800-73522200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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