Variant report

Variant	rs13422416
Chromosome Location	chr2:58384435-58384436
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	chr2:58377432..58380548-chr2:58381310..58384548,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10172295	1.00[YRI][hapmap]
rs13385692	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13415126	1.00[AMR][1000 genomes]
rs13431638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2030237	1.00[YRI][hapmap]
rs4672226	1.00[YRI][hapmap]
rs6717480	1.00[YRI][hapmap]

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	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	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
3	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:58351000-58384600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
8	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:58358800-58385200	Weak transcription	Placenta	Placenta
11	chr2:58358800-58385600	Weak transcription	Fetal Thymus	thymus
12	chr2:58359000-58386600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:58359000-58387400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:58359200-58395200	Weak transcription	Fetal Stomach	stomach
18	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:58359400-58385600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:58359400-58389400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:58359600-58385600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:58359800-58392000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:58360800-58385000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:58360800-58388600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:58363600-58384600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:58365200-58390000	Weak transcription	Psoas Muscle	Psoas
29	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:58365800-58384600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:58368200-58387400	Weak transcription	NHLF	lung
32	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:58370800-58387200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:58371400-58384600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:58372200-58386400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:58373200-58385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:58373800-58389600	Weak transcription	Thymus	Thymus
40	chr2:58374000-58384600	Weak transcription	Primary T cells from cord blood	blood
41	chr2:58374000-58389400	Weak transcription	Right Ventricle	heart
42	chr2:58374400-58386600	Weak transcription	HUVEC	blood vessel
43	chr2:58374400-58393400	Weak transcription	NHEK	skin
44	chr2:58374400-58397400	Weak transcription	Fetal Heart	heart
45	chr2:58374600-58386600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:58374600-58387400	Weak transcription	HMEC	breast
47	chr2:58375000-58384600	Weak transcription	Hela-S3	cervix
48	chr2:58375400-58385600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:58379800-58389400	Strong transcription	Primary B cells from cord blood	blood
50	chr2:58380800-58387800	Weak transcription	Fetal Brain Female	brain

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