Variant report

Variant	rs73983639
Chromosome Location	chr2:208789548-208789549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208789521..208791180-chr2:208792629..208795563,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16840112	1.00[AMR][1000 genomes]
rs55687340	1.00[AMR][1000 genomes]
rs57434067	1.00[AMR][1000 genomes]
rs58524730	1.00[AMR][1000 genomes]
rs59975915	1.00[AMR][1000 genomes]
rs61312965	1.00[AMR][1000 genomes]
rs73983604	1.00[AMR][1000 genomes]
rs73983605	1.00[AMR][1000 genomes]
rs73983606	1.00[AMR][1000 genomes]
rs73983657	1.00[AMR][1000 genomes]
rs73983660	1.00[AMR][1000 genomes]
rs73983679	1.00[AMR][1000 genomes]
rs73983682	1.00[AMR][1000 genomes]
rs73986332	1.00[AMR][1000 genomes]
rs73986348	1.00[AMR][1000 genomes]
rs73986349	1.00[AMR][1000 genomes]
rs73986350	1.00[AMR][1000 genomes]
rs73986351	1.00[AMR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208732000-208790400	Weak transcription	Fetal Thymus	thymus
2	chr2:208753000-208800000	Weak transcription	Psoas Muscle	Psoas
3	chr2:208757800-208791200	Weak transcription	Right Ventricle	heart
4	chr2:208758400-208792800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:208759400-208790000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:208762400-208791000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:208762600-208804000	Weak transcription	Gastric	stomach
8	chr2:208763000-208793600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:208763400-208790800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:208765400-208793000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:208765400-208794600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:208765600-208799600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:208766200-208809000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:208766400-208809800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:208766800-208790400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:208766800-208790400	Weak transcription	Pancreas	Pancrea
17	chr2:208767200-208790600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:208767200-208809200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:208767800-208790800	Weak transcription	Brain Substantia Nigra	brain
20	chr2:208769200-208791000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:208770800-208798400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:208772000-208790200	Weak transcription	Liver	Liver
23	chr2:208772800-208790200	Weak transcription	HSMMtube	muscle
24	chr2:208773000-208795200	Weak transcription	Dnd41	blood
25	chr2:208773400-208809000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:208773600-208793200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:208774000-208790200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:208774000-208790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:208775600-208790400	Weak transcription	Spleen	Spleen
30	chr2:208775800-208795400	Weak transcription	Left Ventricle	heart
31	chr2:208775800-208809800	Weak transcription	Aorta	Aorta
32	chr2:208776800-208798200	Weak transcription	Brain Anterior Caudate	brain
33	chr2:208777000-208796000	Weak transcription	Fetal Heart	heart
34	chr2:208778000-208790600	Weak transcription	Fetal Lung	lung
35	chr2:208778400-208793600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:208778400-208800000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:208778800-208789600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:208779800-208790400	Weak transcription	Right Atrium	heart
39	chr2:208780000-208799600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:208781000-208790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:208781000-208809800	Weak transcription	Fetal Brain Female	brain
42	chr2:208783000-208790000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:208784200-208790400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:208784400-208790000	Weak transcription	Ovary	ovary
45	chr2:208784400-208810000	Weak transcription	Small Intestine	intestine
46	chr2:208784400-208826800	Weak transcription	Thymus	Thymus
47	chr2:208784600-208790400	Weak transcription	Stomach Mucosa	stomach
48	chr2:208784600-208791000	Weak transcription	Brain Angular Gyrus	brain
49	chr2:208784600-208791000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:208784800-208790000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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