Variant report

Variant	rs58715614
Chromosome Location	chr11:102025426-102025427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101981047..101982828-chr11:102024487..102026862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137693	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12417236	1.00[EUR][1000 genomes]
rs12420608	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17097445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942681	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754040	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754832	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57102842	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58421489	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59739003	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577816	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73577857	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577867	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577889	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577900	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73579981	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73582014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948736	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs974830	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101998600-102033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:101998600-102034200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:102000800-102034000	Weak transcription	Lung	lung
4	chr11:102005800-102033000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:102010200-102032400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:102010400-102039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:102012600-102028600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:102012600-102034200	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:102014800-102028400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:102015800-102033200	Weak transcription	Spleen	Spleen
11	chr11:102016000-102026200	Weak transcription	HMEC	breast
12	chr11:102016000-102028800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:102016000-102033200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:102016200-102026200	Weak transcription	HUVEC	blood vessel
15	chr11:102016200-102026800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:102016200-102027400	Weak transcription	Fetal Intestine Small	intestine
17	chr11:102016200-102027600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:102016200-102027800	Weak transcription	Fetal Intestine Large	intestine
19	chr11:102016200-102027800	Weak transcription	NH-A	brain
20	chr11:102016800-102026200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:102017200-102033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:102017400-102027400	Weak transcription	Adipose Nuclei	Adipose
23	chr11:102018200-102025600	Weak transcription	Fetal Stomach	stomach
24	chr11:102018400-102025600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:102018600-102028000	Weak transcription	HSMM	muscle
26	chr11:102020400-102049000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:102021200-102026800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:102022400-102028000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:102022800-102026200	Weak transcription	Aorta	Aorta
30	chr11:102022800-102029800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:102023000-102030600	Enhancers	Fetal Lung	lung
32	chr11:102023200-102025600	Weak transcription	NHEK	skin
33	chr11:102023200-102026000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:102023200-102026400	Weak transcription	Ovary	ovary
35	chr11:102023200-102027400	Weak transcription	Liver	Liver
36	chr11:102023200-102029800	Weak transcription	Gastric	stomach
37	chr11:102023400-102025800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:102023400-102034000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:102023800-102026200	Weak transcription	Small Intestine	intestine
40	chr11:102023800-102028600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:102023800-102029200	Weak transcription	Left Ventricle	heart
42	chr11:102023800-102031000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:102023800-102032600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:102023800-102033000	Weak transcription	Right Atrium	heart
45	chr11:102023800-102033000	Weak transcription	Right Ventricle	heart
46	chr11:102023800-102034000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:102024000-102027200	Weak transcription	Hela-S3	cervix
48	chr11:102024000-102029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:102024000-102034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:102024200-102026200	Weak transcription	Psoas Muscle	Psoas

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