Variant report

Variant	rs1426395
Chromosome Location	chr11:102026293-102026294
allele	G/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: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10791563	0.83[EUR][1000 genomes]
rs10791565	0.91[AFR][1000 genomes]
rs10895255	0.84[EUR][1000 genomes]
rs10895256	0.85[EUR][1000 genomes]
rs11225132	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11225146	0.84[AFR][1000 genomes]
rs11225149	0.81[AFR][1000 genomes]
rs11225151	0.83[AFR][1000 genomes]
rs11603468	0.91[AFR][1000 genomes]
rs11607135	0.83[AFR][1000 genomes]
rs12223094	0.83[AFR][1000 genomes]
rs1365330	0.80[AFR][1000 genomes]
rs1365331	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1426398	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1549496	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1820453	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2033083	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3752685	0.90[EUR][1000 genomes]
rs3824930	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3890538	0.84[AFR][1000 genomes]
rs60304309	0.81[AFR][1000 genomes]
rs61538959	0.81[AFR][1000 genomes]
rs61918360	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61918361	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7105334	0.86[EUR][1000 genomes]
rs7106388	0.89[EUR][1000 genomes]
rs7108698	0.84[AFR][1000 genomes]
rs7123862	0.81[AFR][1000 genomes]
rs7127597	0.83[AFR][1000 genomes]
rs7128788	0.80[EUR][1000 genomes]
rs7483889	0.83[AFR][1000 genomes]
rs7931899	0.86[EUR][1000 genomes]
rs7932563	0.80[EUR][1000 genomes]
rs9787758	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9787890	0.83[AFR][1000 genomes]
rs983112	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[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:74 , 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	chr11:102016000-102028800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:102016000-102033200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:102016200-102026800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:102016200-102027400	Weak transcription	Fetal Intestine Small	intestine
15	chr11:102016200-102027600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:102016200-102027800	Weak transcription	Fetal Intestine Large	intestine
17	chr11:102016200-102027800	Weak transcription	NH-A	brain
18	chr11:102017200-102033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:102017400-102027400	Weak transcription	Adipose Nuclei	Adipose
20	chr11:102018600-102028000	Weak transcription	HSMM	muscle
21	chr11:102020400-102049000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:102021200-102026800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:102022400-102028000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:102022800-102029800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:102023000-102030600	Enhancers	Fetal Lung	lung
26	chr11:102023200-102026400	Weak transcription	Ovary	ovary
27	chr11:102023200-102027400	Weak transcription	Liver	Liver
28	chr11:102023200-102029800	Weak transcription	Gastric	stomach
29	chr11:102023400-102034000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:102023800-102028600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:102023800-102029200	Weak transcription	Left Ventricle	heart
32	chr11:102023800-102031000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:102023800-102032600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:102023800-102033000	Weak transcription	Right Atrium	heart
35	chr11:102023800-102033000	Weak transcription	Right Ventricle	heart
36	chr11:102023800-102034000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:102024000-102027200	Weak transcription	Hela-S3	cervix
38	chr11:102024000-102029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:102024000-102034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:102024200-102026400	Weak transcription	A549	lung
41	chr11:102024800-102026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:102025000-102026400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:102025000-102030200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:102025200-102026400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:102025200-102027600	Genic enhancers	HepG2	liver
46	chr11:102025400-102026600	Enhancers	Fetal Kidney	kidney
47	chr11:102025400-102028200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:102025400-102029400	Enhancers	Osteobl	bone
49	chr11:102025600-102026600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:102025600-102026600	Weak transcription	Stomach Mucosa	stomach

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