Variant report

Variant	rs7588018
Chromosome Location	chr2:58357055-58357056
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	chr2:58350031..58352621-chr2:58354881..58357674,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10176942	1.00[EUR][1000 genomes]
rs12105064	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049249	1.00[EUR][1000 genomes]
rs17049265	1.00[EUR][1000 genomes]
rs17049267	1.00[EUR][1000 genomes]
rs17049283	1.00[ASN][1000 genomes]
rs17049333	1.00[EUR][1000 genomes]
rs17049337	1.00[EUR][1000 genomes]
rs17049338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049345	1.00[ASN][1000 genomes]
rs17049350	1.00[EUR][1000 genomes]
rs17049353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17049355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030236	1.00[EUR][1000 genomes]
rs57559033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60226794	1.00[EUR][1000 genomes]
rs60590670	1.00[EUR][1000 genomes]
rs60956789	1.00[EUR][1000 genomes]
rs61659380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72947193	1.00[ASN][1000 genomes]
rs72947197	1.00[ASN][1000 genomes]
rs72951065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72953108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566805	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579768	1.00[ASN][1000 genomes]
rs7587962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58303000-58358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:58311200-58382400	Weak transcription	Aorta	Aorta
3	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:58318200-58373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:58319400-58358400	Weak transcription	Ovary	ovary
6	chr2:58319800-58359000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:58319800-58367200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:58320000-58359000	Weak transcription	Left Ventricle	heart
9	chr2:58332400-58370800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:58335800-58358600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:58336400-58365000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:58337000-58358600	Weak transcription	NHLF	lung
13	chr2:58337200-58358400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:58338000-58358400	Weak transcription	Fetal Stomach	stomach
15	chr2:58338200-58365400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:58338800-58359000	Weak transcription	HepG2	liver
17	chr2:58340000-58358400	Weak transcription	NH-A	brain
18	chr2:58340600-58358400	Weak transcription	HMEC	breast
19	chr2:58340600-58363000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:58340600-58367000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:58340600-58373600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:58346000-58358600	Weak transcription	Fetal Lung	lung
24	chr2:58346000-58384400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:58346600-58358400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:58346600-58373600	Weak transcription	NHEK	skin
27	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:58347000-58360800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:58347200-58360200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:58347200-58373800	Weak transcription	Hela-S3	cervix
31	chr2:58347800-58369800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:58347800-58384000	Weak transcription	Fetal Kidney	kidney
33	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:58348000-58360600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:58348200-58358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:58348200-58360600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:58348400-58358400	Weak transcription	NHDF-Ad	bronchial
38	chr2:58348400-58373400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:58348400-58373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:58348600-58382400	Weak transcription	Fetal Intestine Large	intestine
41	chr2:58348800-58365600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:58349000-58358400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:58349000-58358400	Weak transcription	Pancreas	Pancrea
44	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
45	chr2:58349400-58358600	Weak transcription	A549	lung
46	chr2:58350400-58363600	Weak transcription	Right Ventricle	heart
47	chr2:58350400-58383800	Weak transcription	K562	blood
48	chr2:58350600-58358600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:58350800-58367400	Weak transcription	Primary T cells from cord blood	blood
50	chr2:58350800-58370800	Weak transcription	Liver	Liver

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