Variant report

Variant	rs7129313
Chromosome Location	chr11:93450209-93450210
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93449498..93453225-chr11:93454888..93458363,6	K562	blood:

Variant related genes	Relation type
ENSG00000166004	Chromatin interaction
ENSG00000254911	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16919267	1.00[AMR][1000 genomes]
rs2298706	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs34380494	1.00[AMR][1000 genomes]
rs3737461	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs55734478	1.00[AMR][1000 genomes]
rs55841047	1.00[AMR][1000 genomes]
rs57824239	1.00[AMR][1000 genomes]
rs58142073	1.00[AMR][1000 genomes]
rs58451343	1.00[AMR][1000 genomes]
rs59010425	1.00[AMR][1000 genomes]
rs60059131	1.00[AMR][1000 genomes]
rs60264207	1.00[AMR][1000 genomes]
rs61276777	1.00[AMR][1000 genomes]
rs61498518	1.00[AMR][1000 genomes]
rs7111872	1.00[AMR][1000 genomes]
rs7121098	1.00[AMR][1000 genomes]
rs7129028	1.00[AMR][1000 genomes]
rs7937088	1.00[AMR][1000 genomes]
rs7951514	1.00[AMR][1000 genomes]
rs7952323	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
2	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:93440200-93460000	Weak transcription	NHLF	lung
6	chr11:93441600-93461200	Weak transcription	HSMMtube	muscle
7	chr11:93441800-93450600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:93442000-93450800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:93442000-93463200	Weak transcription	Colonic Mucosa	Colon
10	chr11:93442200-93454200	Weak transcription	NH-A	brain
11	chr11:93442600-93450800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:93442800-93460000	Weak transcription	Fetal Brain Male	brain
13	chr11:93443400-93451000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:93443600-93450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:93443600-93451000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:93443600-93454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:93443600-93460200	Weak transcription	NHDF-Ad	bronchial
18	chr11:93444000-93450400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:93444000-93454400	Weak transcription	A549	lung
20	chr11:93444000-93454400	Weak transcription	HMEC	breast
21	chr11:93444000-93455200	Weak transcription	Brain Angular Gyrus	brain
22	chr11:93444000-93466400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:93444200-93450400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:93444200-93454400	Weak transcription	Fetal Heart	heart
25	chr11:93444200-93462200	Weak transcription	Psoas Muscle	Psoas
26	chr11:93444400-93451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:93445400-93458600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:93445400-93465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:93445800-93454400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:93446200-93454800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:93446800-93450800	Strong transcription	Fetal Thymus	thymus
33	chr11:93446800-93451200	Genic enhancers	K562	blood
34	chr11:93447200-93451000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:93447200-93459800	Strong transcription	Fetal Stomach	stomach
36	chr11:93447400-93450600	Strong transcription	GM12878-XiMat	blood
37	chr11:93447400-93452000	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:93447600-93450600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:93447600-93451800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:93447600-93451800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:93447600-93451800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:93447600-93451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:93447600-93453000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:93447600-93457800	Strong transcription	Liver	Liver
45	chr11:93447600-93468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:93447800-93451000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:93447800-93451400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:93447800-93451600	Strong transcription	Fetal Intestine Large	intestine
49	chr11:93447800-93451600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr11:93447800-93452200	Strong transcription	Fetal Muscle Trunk	muscle

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