Variant report

Variant	rs7927957
Chromosome Location	chr11:102023616-102023617
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102022562..102024474-chr11:102026312..102027890,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10750632	0.80[EUR][1000 genomes]
rs10750633	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10750634	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791564	0.86[EUR][1000 genomes]
rs10791565	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10895258	0.81[EUR][1000 genomes]
rs10895259	0.80[EUR][1000 genomes]
rs10895261	0.85[EUR][1000 genomes]
rs10895262	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10895263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10895264	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10895265	0.83[ASN][1000 genomes]
rs10895266	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11225134	0.80[EUR][1000 genomes]
rs11225135	0.81[EUR][1000 genomes]
rs11225139	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11225141	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11225146	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11225147	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11225149	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225151	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603468	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11607135	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12223094	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796162	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1365330	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1426392	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1426394	0.83[ASN][1000 genomes]
rs1834595	0.81[EUR][1000 genomes]
rs1834596	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1893497	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1895917	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1942680	0.81[EUR][1000 genomes]
rs1942688	0.80[EUR][1000 genomes]
rs1942689	0.80[EUR][1000 genomes]
rs1942690	0.80[EUR][1000 genomes]
rs2003357	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2019070	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3890538	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4329661	0.86[EUR][1000 genomes]
rs4442513	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754833	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4754834	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60304309	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61538959	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6590949	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7108698	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7108820	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7117239	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7123862	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7124280	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126535	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7127597	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130772	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7483889	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7924737	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7928547	0.80[EUR][1000 genomes]
rs7938172	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs948737	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9787890	0.92[AMR][1000 genomes];0.97[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:69 , 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	chr11:102016200-102025400	Weak transcription	Fetal Kidney	kidney
15	chr11:102016200-102026200	Weak transcription	HUVEC	blood vessel
16	chr11:102016200-102026800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:102016200-102027400	Weak transcription	Fetal Intestine Small	intestine
18	chr11:102016200-102027600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:102016200-102027800	Weak transcription	Fetal Intestine Large	intestine
20	chr11:102016200-102027800	Weak transcription	NH-A	brain
21	chr11:102016800-102026200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:102017200-102033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:102017400-102027400	Weak transcription	Adipose Nuclei	Adipose
24	chr11:102018200-102025600	Weak transcription	Fetal Stomach	stomach
25	chr11:102018400-102025600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:102018600-102028000	Weak transcription	HSMM	muscle
27	chr11:102019000-102023800	Weak transcription	A549	lung
28	chr11:102019400-102024400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:102020200-102023800	Weak transcription	Hela-S3	cervix
30	chr11:102020400-102049000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:102021200-102023800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:102021200-102026800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:102021400-102023800	Enhancers	Left Ventricle	heart
34	chr11:102021800-102024200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:102022000-102023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:102022000-102024000	Enhancers	NHDF-Ad	bronchial
37	chr11:102022000-102025400	Enhancers	Fetal Heart	heart
38	chr11:102022200-102023800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:102022400-102025400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:102022400-102028000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:102022600-102023800	Enhancers	Right Atrium	heart
42	chr11:102022600-102023800	Enhancers	Right Ventricle	heart
43	chr11:102022600-102024400	Enhancers	Osteobl	bone
44	chr11:102022800-102023800	Weak transcription	NHLF	lung
45	chr11:102022800-102025200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:102022800-102026200	Weak transcription	Aorta	Aorta
47	chr11:102022800-102029800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:102023000-102023800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:102023000-102023800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:102023000-102023800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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