Variant report

Variant	rs17521418
Chromosome Location	chr2:53973974-53973975
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	chr2:53969486..53972381-chr2:53972663..53975031,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10490466	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10490467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125516	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11676319	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11676512	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11681941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11689950	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11692732	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11693306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17520680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17578919	0.81[AMR][1000 genomes]
rs17580080	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34498147	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55891349	1.00[ASN][1000 genomes]
rs56273260	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278932	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58445692	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715313	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7349309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][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	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
2	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
5	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
6	chr2:53936600-53978600	Weak transcription	Hela-S3	cervix
7	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:53937200-53978600	Weak transcription	NH-A	brain
11	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
12	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:53937400-53979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:53938000-53974800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:53938000-53974800	Weak transcription	Placenta	Placenta
18	chr2:53938200-53975200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:53938400-53975000	Weak transcription	Fetal Kidney	kidney
20	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
22	chr2:53938400-53992400	Weak transcription	K562	blood
23	chr2:53941800-53974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:53941800-53976400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:53943800-53974800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:53943800-53983600	Weak transcription	Ovary	ovary
27	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
28	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
29	chr2:53944000-53974600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:53949800-53974200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:53952200-53978600	Weak transcription	Osteobl	bone
32	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:53952600-53974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:53954800-53982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:53954800-53983800	Weak transcription	Lung	lung
36	chr2:53955800-53974600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:53956000-53979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
39	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:53956800-53974600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:53957200-53974600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:53957800-53983400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:53958000-53977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:53958200-53994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:53960400-53983400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:53961600-53974000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:53961800-53974800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:53961800-53976200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:53961800-53979400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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