Variant report

Variant	rs233494
Chromosome Location	chr6:14805514-14805515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14804555..14806809-chr6:14809092..14811313,2	MCF-7	breast:
2	chr6:14802861..14805751-chr7:155390264..155391805,2	MCF-7	breast:
3	chr6:14797001..14802228-chr6:14803331..14807791,8	K562	blood:
4	chr6:14801951..14804468-chr6:14805275..14807028,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11751114	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11970548	0.93[EUR][1000 genomes]
rs16875788	0.81[GIH][hapmap];1.00[MEX][hapmap]
rs233482	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs233483	0.98[EUR][1000 genomes]
rs233484	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs233485	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs233486	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs233487	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs233488	0.95[EUR][1000 genomes]
rs233489	0.94[EUR][1000 genomes]
rs233490	0.94[EUR][1000 genomes]
rs233491	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs394849	0.82[MEX][hapmap]
rs41472949	0.81[GIH][hapmap];1.00[MEX][hapmap]
rs60681633	0.94[EUR][1000 genomes]
rs62390273	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62390274	0.94[EUR][1000 genomes]
rs62390275	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62390278	0.82[AMR][1000 genomes]
rs62390279	0.82[AMR][1000 genomes]
rs62390280	0.82[AMR][1000 genomes]
rs7742350	0.94[ASN][1000 genomes]
rs9476665	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14802000-14805600	Enhancers	Fetal Thymus	thymus
2	chr6:14802400-14805600	Enhancers	Fetal Brain Male	brain
3	chr6:14802400-14807400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:14802600-14805600	Enhancers	Fetal Muscle Leg	muscle
5	chr6:14802600-14805800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:14802600-14807400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:14803600-14805800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:14803600-14806800	Enhancers	HMEC	breast
9	chr6:14803800-14805600	Enhancers	Adipose Nuclei	Adipose
10	chr6:14803800-14805600	Enhancers	NHDF-Ad	bronchial
11	chr6:14804000-14805600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:14804000-14805600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:14804000-14805600	Enhancers	HSMMtube	muscle
14	chr6:14804200-14805600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:14804200-14805600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:14804200-14805600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:14804200-14805600	Enhancers	Fetal Heart	heart
18	chr6:14804200-14805600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:14804400-14805600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:14804400-14805600	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:14804400-14805600	Enhancers	Fetal Intestine Small	intestine
22	chr6:14804600-14805600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:14804600-14805600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:14804600-14805600	Enhancers	Brain Anterior Caudate	brain
25	chr6:14804600-14805600	Enhancers	Colon Smooth Muscle	Colon
26	chr6:14804600-14805600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr6:14804600-14805600	Enhancers	Fetal Intestine Large	intestine
28	chr6:14804600-14805600	Enhancers	HSMM	muscle
29	chr6:14804600-14806600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:14804800-14805600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:14804800-14805600	Bivalent Enhancer	Fetal Stomach	stomach
32	chr6:14804800-14805600	Enhancers	Left Ventricle	heart
33	chr6:14804800-14805600	Enhancers	Ovary	ovary
34	chr6:14804800-14805600	Enhancers	Stomach Mucosa	stomach
35	chr6:14804800-14805600	Enhancers	NH-A	brain
36	chr6:14804800-14806200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:14804800-14806400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:14805000-14805600	Enhancers	Colonic Mucosa	Colon
39	chr6:14805000-14805600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:14805000-14805600	Enhancers	Fetal Muscle Trunk	muscle
41	chr6:14805000-14805600	Enhancers	Lung	lung
42	chr6:14805000-14805600	Enhancers	NHLF	lung
43	chr6:14805000-14805600	Enhancers	Osteobl	bone
44	chr6:14805200-14805600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr6:14805400-14805600	Enhancers	Brain Cingulate Gyrus	brain
46	chr6:14805400-14805600	Enhancers	Brain Hippocampus Middle	brain
47	chr6:14805400-14805600	Enhancers	Brain Substantia Nigra	brain
48	chr6:14805400-14805600	Enhancers	Rectal Smooth Muscle	rectum
49	chr6:14805400-14806400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:14805400-14807200	Weak transcription	Fetal Lung	lung

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