Variant report

Variant	rs2114308
Chromosome Location	chr11:102048333-102048334
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	chr11:102038383..102041137-chr11:102046263..102048631,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10791566	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791569	0.91[EUR][1000 genomes]
rs10895269	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10895270	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10895271	0.93[EUR][1000 genomes]
rs11225153	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11225155	0.91[ASN][1000 genomes]
rs11225169	0.90[EUR][1000 genomes]
rs12222063	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1820454	0.90[EUR][1000 genomes]
rs1942683	0.91[ASN][1000 genomes]
rs2846836	0.86[EUR][1000 genomes]
rs2846837	0.86[EUR][1000 genomes]
rs4420227	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4561174	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4754836	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61893575	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7104685	0.91[EUR][1000 genomes]
rs7106107	0.91[EUR][1000 genomes]
rs7107909	0.89[EUR][1000 genomes]
rs7110355	0.90[EUR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102020400-102049000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:102026400-102059400	Weak transcription	Fetal Brain Male	brain
3	chr11:102028000-102062800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:102028600-102055200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:102029200-102067600	Weak transcription	HSMMtube	muscle
6	chr11:102029400-102050000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:102030200-102048600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:102033400-102061000	Weak transcription	Right Ventricle	heart
9	chr11:102034400-102055200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:102034400-102057200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:102034600-102049200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:102034600-102049200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:102034600-102076800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:102035400-102055600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:102036000-102069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:102036200-102050200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:102037400-102049800	Weak transcription	Fetal Heart	heart
18	chr11:102039600-102048800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:102039600-102048800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:102039600-102049000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:102039600-102056800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:102041600-102062400	Weak transcription	Left Ventricle	heart
23	chr11:102042400-102050000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:102042400-102055400	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:102042800-102049400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:102042800-102057200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:102043800-102048800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:102043800-102048800	Weak transcription	Stomach Mucosa	stomach
29	chr11:102043800-102051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:102043800-102077000	Weak transcription	Esophagus	oesophagus
31	chr11:102043800-102100400	Weak transcription	Pancreas	Pancrea
32	chr11:102044000-102055200	Weak transcription	Gastric	stomach
33	chr11:102045800-102048600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:102045800-102048600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:102045800-102049600	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:102045800-102050800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:102046000-102049000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:102046000-102055400	Weak transcription	Ovary	ovary
39	chr11:102046600-102049800	Weak transcription	Adipose Nuclei	Adipose
40	chr11:102046600-102056800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:102046600-102057000	Weak transcription	Fetal Kidney	kidney
42	chr11:102046800-102048800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:102046800-102056800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:102046800-102076600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:102047000-102048600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:102047000-102057200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:102047200-102048400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:102047200-102048600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:102047200-102048600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:102047200-102048800	Weak transcription	Fetal Lung	lung

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