Variant report

Variant	rs2165420
Chromosome Location	chr6:13368924-13368925
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	chr6:13368035..13369691-chr6:13614007..13616003,2	MCF-7	breast:
2	chr6:13366967..13368936-chr6:13574770..13576308,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261071	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13340432	1.00[ASN][1000 genomes]
rs34393712	1.00[AMR][1000 genomes]
rs3734880	1.00[ASN][1000 genomes]
rs480329	1.00[AMR][1000 genomes]
rs543580	1.00[AMR][1000 genomes]
rs60919216	0.92[ASN][1000 genomes]
rs754439	1.00[ASN][1000 genomes]
rs821301	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13355600-13383400	Weak transcription	A549	lung
2	chr6:13356200-13371800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:13356200-13372000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:13356200-13373600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:13356200-13378200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:13358000-13371800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:13360800-13370800	Weak transcription	HepG2	liver
8	chr6:13361600-13378200	Weak transcription	Fetal Thymus	thymus
9	chr6:13365000-13377800	Weak transcription	Primary B cells from cord blood	blood
10	chr6:13365400-13379800	Weak transcription	Primary T cells from cord blood	blood
11	chr6:13365600-13369000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:13365600-13378000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:13365800-13373800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:13365800-13373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:13365800-13373800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:13365800-13377600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:13365800-13378800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:13365800-13378800	Weak transcription	Gastric	stomach
19	chr6:13365800-13379400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:13365800-13379600	Weak transcription	Brain Germinal Matrix	brain
21	chr6:13365800-13380600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:13365800-13385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:13366000-13372200	Weak transcription	Fetal Stomach	stomach
24	chr6:13366000-13372800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:13366000-13374600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:13366000-13378200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:13366000-13378200	Weak transcription	Colonic Mucosa	Colon
28	chr6:13366000-13378600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:13366000-13380600	Weak transcription	Ovary	ovary
30	chr6:13366000-13382800	Weak transcription	Liver	Liver
31	chr6:13366000-13386800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:13366600-13372800	Weak transcription	GM12878-XiMat	blood
33	chr6:13367400-13369000	Enhancers	Stomach Smooth Muscle	stomach
34	chr6:13367400-13369200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:13367400-13369400	Enhancers	Brain Angular Gyrus	brain
36	chr6:13367400-13371800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:13367400-13372200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:13367400-13373000	Enhancers	Brain Anterior Caudate	brain
39	chr6:13367600-13369200	Enhancers	Right Ventricle	heart
40	chr6:13367600-13369600	Enhancers	Left Ventricle	heart
41	chr6:13367600-13369600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:13367600-13369600	Enhancers	NHLF	lung
43	chr6:13367600-13369800	Enhancers	Adipose Nuclei	Adipose
44	chr6:13367600-13369800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:13367600-13371200	Enhancers	Right Atrium	heart
46	chr6:13367600-13371200	Enhancers	Spleen	Spleen
47	chr6:13367600-13371800	Enhancers	NHEK	skin
48	chr6:13367600-13373000	Enhancers	Brain Cingulate Gyrus	brain
49	chr6:13367600-13374400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:13368000-13369400	Enhancers	Skeletal Muscle Female	skeletal muscle

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