Variant report

Variant	rs1531001
Chromosome Location	chr11:73606963-73606964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73586122..73588850-chr11:73605359..73608736,4	MCF-7	breast:
2	chr11:73599833..73601446-chr11:73604982..73607037,2	K562	blood:

Variant related genes	Relation type
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1466218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1598044	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1618529	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1623476	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670538	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670553	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1670555	0.91[AFR][1000 genomes]
rs1670560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670571	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670574	0.93[AFR][1000 genomes]
rs1723834	0.83[AFR][1000 genomes]
rs17244671	1.00[EUR][1000 genomes]
rs17310409	0.93[EUR][1000 genomes]
rs1792157	0.86[AFR][1000 genomes]
rs1792164	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792185	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1792189	0.91[AFR][1000 genomes]
rs1792194	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792202	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2444602	0.96[AFR][1000 genomes]
rs2462617	0.83[AFR][1000 genomes]
rs2511262	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511273	0.82[AFR][1000 genomes]
rs2511275	0.93[AFR][1000 genomes]
rs2515090	0.82[AFR][1000 genomes]
rs2515091	0.86[AFR][1000 genomes]
rs2515095	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2886812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2924504	1.00[AFR][1000 genomes]
rs3019137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35133035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4548648	0.83[AFR][1000 genomes]
rs627627	1.00[AFR][1000 genomes]
rs651833	1.00[AFR][1000 genomes]
rs7480464	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs935989	0.86[AFR][1000 genomes]
rs9651759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
4	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
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588600-73610200	Weak transcription	Gastric	stomach
2	chr11:73588600-73610200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:73588600-73611200	Weak transcription	Aorta	Aorta
4	chr11:73588800-73607000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:73588800-73610200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:73588800-73610600	Weak transcription	Spleen	Spleen
7	chr11:73588800-73610800	Weak transcription	Lung	lung
8	chr11:73588800-73610800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:73588800-73611200	Weak transcription	Right Ventricle	heart
10	chr11:73588800-73622000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:73588800-73623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:73588800-73625200	Weak transcription	Small Intestine	intestine
13	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
14	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
15	chr11:73589000-73610000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:73589000-73610200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:73589000-73610200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain
19	chr11:73589200-73611200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:73589400-73609800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:73589400-73610000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:73589400-73629200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:73590000-73610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:73590000-73611200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:73591200-73610200	Weak transcription	Pancreas	Pancrea
26	chr11:73591400-73610200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:73591400-73610200	Weak transcription	Esophagus	oesophagus
28	chr11:73591600-73618000	Weak transcription	K562	blood
29	chr11:73595600-73610200	Weak transcription	Ovary	ovary
30	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:73597200-73607200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:73597800-73607200	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:73598000-73607000	Strong transcription	Fetal Intestine Large	intestine
34	chr11:73598400-73607200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:73598600-73610200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:73598800-73611200	Weak transcription	Hela-S3	cervix
37	chr11:73600400-73610200	Weak transcription	Fetal Lung	lung
38	chr11:73600400-73618000	Weak transcription	Fetal Heart	heart
39	chr11:73600800-73610000	Weak transcription	HMEC	breast
40	chr11:73600800-73610200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:73601000-73607200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:73601000-73610000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
44	chr11:73601400-73610000	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:73601600-73609600	Weak transcription	GM12878-XiMat	blood
46	chr11:73601600-73610000	Weak transcription	Brain Anterior Caudate	brain
47	chr11:73601600-73610200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:73601600-73630000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:73601800-73611200	Weak transcription	HepG2	liver
50	chr11:73602000-73609800	Weak transcription	NHEK	skin

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