Variant report

Variant	rs73968042
Chromosome Location	chr2:153365564-153365565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153364136..153366729-chr2:153467251..153469526,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56370315	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59579926	1.00[AMR][1000 genomes]
rs60190638	1.00[AMR][1000 genomes]
rs61574062	1.00[AMR][1000 genomes]
rs6759858	1.00[AMR][1000 genomes]
rs73968017	1.00[AMR][1000 genomes]
rs73968031	1.00[AMR][1000 genomes]
rs73968039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968050	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968053	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
2	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
3	chr2:153360800-153365600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:153361000-153365600	Enhancers	Osteobl	bone
5	chr2:153361000-153365800	Enhancers	NH-A	brain
6	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:153361200-153365600	Enhancers	HMEC	breast
8	chr2:153361200-153365600	Enhancers	HUVEC	blood vessel
9	chr2:153361200-153365800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:153361600-153369800	Weak transcription	NHDF-Ad	bronchial
11	chr2:153361800-153365600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:153362000-153365600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
14	chr2:153362600-153365600	Enhancers	Brain Substantia Nigra	brain
15	chr2:153363200-153365600	Enhancers	Brain Angular Gyrus	brain
16	chr2:153363400-153365600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:153363400-153365600	Enhancers	HepG2	liver
18	chr2:153363400-153365800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:153363600-153365800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:153363800-153369800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:153364200-153365800	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:153364200-153369600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:153364200-153369800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:153364400-153365600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:153364400-153365600	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:153364400-153365600	Enhancers	Hela-S3	cervix
27	chr2:153364400-153365600	Enhancers	NHLF	lung
28	chr2:153364600-153365600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:153364600-153365600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:153364600-153365600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:153364600-153365600	Enhancers	Psoas Muscle	Psoas
32	chr2:153364800-153365600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:153364800-153365600	Enhancers	Fetal Lung	lung
34	chr2:153364800-153365800	Enhancers	Brain Anterior Caudate	brain
35	chr2:153365000-153365600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:153365000-153365600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:153365000-153365600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:153365000-153365600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:153365000-153365600	Enhancers	Fetal Stomach	stomach
40	chr2:153365000-153365800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:153365000-153377600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:153365200-153365600	Enhancers	Brain Germinal Matrix	brain
43	chr2:153365200-153365600	Enhancers	Fetal Muscle Leg	muscle
44	chr2:153365200-153365600	Enhancers	Ovary	ovary
45	chr2:153365200-153365600	Enhancers	Pancreas	Pancrea
46	chr2:153365200-153365600	Enhancers	Spleen	Spleen
47	chr2:153365200-153366800	Weak transcription	NHEK	skin
48	chr2:153365200-153369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:153365200-153369800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:153365400-153365800	Enhancers	A549	lung

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