Variant report

Variant	rs2511275
Chromosome Location	chr11:73554863-73554864
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73496535..73499045-chr11:73554622..73557449,2	MCF-7	breast:
2	chr11:73554205..73557011-chr11:73561759..73564537,2	K562	blood:

Variant related genes	Relation type
ENSG00000256681	Chromatin interaction
ENSG00000175581	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12293194	1.00[AMR][1000 genomes]
rs1466218	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1531001	0.93[AFR][1000 genomes]
rs1598044	0.86[AFR][1000 genomes]
rs1618529	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1621654	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs1623476	0.93[AFR][1000 genomes]
rs1670538	0.89[AFR][1000 genomes]
rs1670553	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1670555	0.91[AFR][1000 genomes]
rs1670560	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1670561	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1670571	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1670574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1723834	0.93[YRI][hapmap]
rs1723838	0.93[YRI][hapmap]
rs1723844	0.93[YRI][hapmap]
rs1723845	0.93[YRI][hapmap]
rs1723849	0.93[YRI][hapmap]
rs1792157	0.93[YRI][hapmap]
rs1792164	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1792185	0.89[AFR][1000 genomes]
rs1792186	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1792189	0.91[AFR][1000 genomes]
rs1792197	0.93[AFR][1000 genomes]
rs1792202	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1880643	0.93[YRI][hapmap]
rs1976913	1.00[AMR][1000 genomes]
rs2444602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511262	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2511273	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2515090	0.82[AFR][1000 genomes]
rs2515095	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2886812	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2924504	0.93[AFR][1000 genomes]
rs3019137	0.93[AFR][1000 genomes]
rs35133035	0.82[AFR][1000 genomes]
rs4551800	1.00[AMR][1000 genomes]
rs4944854	0.93[YRI][hapmap]
rs4944859	0.93[YRI][hapmap]
rs594814	1.00[AMR][1000 genomes]
rs599116	1.00[AMR][1000 genomes]
rs601335	1.00[AMR][1000 genomes]
rs610280	1.00[AMR][1000 genomes]
rs620059	1.00[AMR][1000 genomes]
rs627627	0.93[AFR][1000 genomes]
rs627721	1.00[AMR][1000 genomes]
rs641423	1.00[AMR][1000 genomes]
rs651833	0.93[AFR][1000 genomes]
rs652229	1.00[AMR][1000 genomes]
rs6592529	0.93[YRI][hapmap]
rs7480464	0.89[AFR][1000 genomes]
rs7932364	0.93[YRI][hapmap]
rs7950472	1.00[AMR][1000 genomes]
rs935989	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9634024	0.93[YRI][hapmap]
rs9651759	0.93[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	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
3	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
4	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
5	chr11:73500800-73558800	Weak transcription	NHEK	skin
6	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
7	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
9	chr11:73508800-73575400	Weak transcription	Gastric	stomach
10	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
13	chr11:73531800-73555600	Weak transcription	Fetal Kidney	kidney
14	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
15	chr11:73537200-73559800	Weak transcription	Small Intestine	intestine
16	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:73539200-73574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:73540000-73571200	Weak transcription	NHDF-Ad	bronchial
21	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:73541600-73567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:73541800-73574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
25	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
26	chr11:73542600-73555000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:73543800-73555200	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:73543800-73560400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:73544000-73555400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:73548800-73558200	Weak transcription	K562	blood
32	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:73549400-73567000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:73549800-73562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:73549800-73562600	Weak transcription	Brain Anterior Caudate	brain
36	chr11:73549800-73567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
38	chr11:73550000-73555400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:73550000-73555400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:73550000-73555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:73550000-73555800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:73550000-73557800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:73550000-73563000	Weak transcription	Brain Angular Gyrus	brain
44	chr11:73550000-73567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:73550000-73567000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:73550000-73567000	Weak transcription	Primary B cells from cord blood	blood
47	chr11:73550000-73574000	Weak transcription	A549	lung
48	chr11:73550000-73577200	Weak transcription	HSMMtube	muscle
49	chr11:73550400-73555200	Weak transcription	Brain Substantia Nigra	brain
50	chr11:73550400-73565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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