Variant report

Variant	rs73944821
Chromosome Location	chr2:58365058-58365059
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	chr2:58322239..58324649-chr2:58364726..58366691,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58435179	1.00[AMR][1000 genomes]
rs73942274	1.00[AMR][1000 genomes]
rs73942288	1.00[AMR][1000 genomes]
rs73944825	1.00[AMR][1000 genomes]
rs759352	0.81[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	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3440129	chr2:58363198-58365446	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58311200-58382400	Weak transcription	Aorta	Aorta
2	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:58318200-58373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:58319800-58367200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:58332400-58370800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:58338200-58365400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:58340600-58367000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:58340600-58373600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:58346000-58384400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:58346600-58373600	Weak transcription	NHEK	skin
12	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:58347200-58373800	Weak transcription	Hela-S3	cervix
14	chr2:58347800-58369800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:58347800-58384000	Weak transcription	Fetal Kidney	kidney
16	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:58348400-58373400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:58348400-58373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:58348600-58382400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:58348800-58365600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:58350400-58383800	Weak transcription	K562	blood
23	chr2:58350800-58367400	Weak transcription	Primary T cells from cord blood	blood
24	chr2:58350800-58370800	Weak transcription	Liver	Liver
25	chr2:58351000-58371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:58351000-58382400	Weak transcription	Esophagus	oesophagus
27	chr2:58351000-58384600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:58351200-58365800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
30	chr2:58358000-58366400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:58358800-58367200	Weak transcription	Ovary	ovary
34	chr2:58358800-58382400	Weak transcription	Pancreas	Pancrea
35	chr2:58358800-58385200	Weak transcription	Placenta	Placenta
36	chr2:58358800-58385600	Weak transcription	Fetal Thymus	thymus
37	chr2:58359000-58367000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:58359000-58367400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:58359000-58368000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:58359000-58371400	Weak transcription	Colonic Mucosa	Colon
41	chr2:58359000-58386600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:58359000-58387400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:58359200-58366800	Weak transcription	Adipose Nuclei	Adipose
47	chr2:58359200-58373400	Weak transcription	HMEC	breast
48	chr2:58359200-58381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:58359200-58382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:58359200-58382400	Weak transcription	Rectal Smooth Muscle	rectum

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