Variant report

Variant	rs2019070
Chromosome Location	chr11:102009364-102009365
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	chr11:101980579..101982945-chr11:102007764..102010704,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137693	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10750632	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10750633	0.87[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10750634	0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10791564	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10791565	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10895258	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895259	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895261	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10895262	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10895263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895264	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10895265	0.84[ASN][1000 genomes]
rs10895266	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11225134	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11225135	0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11225139	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11225141	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11225146	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225147	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11225149	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11225151	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11603468	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11606471	0.83[ASN][1000 genomes]
rs11607135	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12223094	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12790160	0.84[ASN][1000 genomes]
rs12796162	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1365330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1426392	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1426394	0.82[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1834595	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1834596	0.87[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1893497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1895917	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1942680	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1942688	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1942689	0.82[CHB][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1942690	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2003357	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3890538	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4329661	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4442513	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4754833	0.82[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4754834	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60304309	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61538959	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6590949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7108698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108820	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7117239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123862	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124280	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7126535	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7127597	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7130772	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7483889	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924449	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7924737	0.82[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7927957	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7928547	0.82[CHB][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7938172	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs948737	0.82[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9787890	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101983600-102014800	Weak transcription	Pancreas	Pancrea
2	chr11:101988800-102009600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:101989600-102015200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:101991000-102010000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:101991600-102012400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:101991600-102015200	Weak transcription	Fetal Kidney	kidney
7	chr11:101991600-102015600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:101998600-102033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:101998600-102034200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:101998800-102009800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:101998800-102014400	Weak transcription	Liver	Liver
12	chr11:101998800-102014600	Weak transcription	Small Intestine	intestine
13	chr11:101998800-102014800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:101999000-102010000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:101999000-102012600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:101999400-102010000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:101999600-102009400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:102000800-102034000	Weak transcription	Lung	lung
19	chr11:102001200-102010000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:102002400-102009600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:102002400-102010000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:102002400-102010000	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:102002400-102010200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:102003600-102009600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:102004600-102015600	Weak transcription	Ovary	ovary
26	chr11:102005800-102033000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:102006200-102014600	Weak transcription	Fetal Stomach	stomach
28	chr11:102006400-102009800	Weak transcription	Fetal Heart	heart
29	chr11:102006400-102010000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:102006400-102010000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:102006400-102012000	Weak transcription	Psoas Muscle	Psoas
32	chr11:102006400-102015400	Weak transcription	Right Atrium	heart
33	chr11:102006400-102015600	Weak transcription	Right Ventricle	heart
34	chr11:102007000-102009400	Weak transcription	Fetal Lung	lung
35	chr11:102007200-102010000	Weak transcription	Left Ventricle	heart
36	chr11:102007400-102009800	Weak transcription	Fetal Intestine Large	intestine
37	chr11:102007600-102010000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:102007600-102012000	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:102008000-102009600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:102008600-102009800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:102008800-102009400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:102008800-102010000	Enhancers	HSMMtube	muscle
43	chr11:102008800-102012000	Enhancers	HepG2	liver
44	chr11:102008800-102012000	Enhancers	HMEC	breast
45	chr11:102009000-102009400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:102009000-102009400	ZNF genes & repeats	A549	lung
47	chr11:102009000-102009400	Flanking Active TSS	NH-A	brain
48	chr11:102009000-102009400	Flanking Active TSS	NHLF	lung
49	chr11:102009000-102009600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr11:102009000-102009600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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