Variant report

Variant	rs17183100
Chromosome Location	chr2:58359680-58359681
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	chr2:58358163..58360971-chr2:58362673..58364987,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10167028	0.91[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10179025	0.84[AFR][1000 genomes]
rs10184957	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs10185542	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10185758	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10198382	0.83[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10203887	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11903212	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12624152	0.91[CEU][hapmap];1.00[TSI][hapmap]
rs13001078	0.91[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13006005	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs13008111	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023405	0.91[CEU][hapmap]
rs13033987	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13384786	0.91[CEU][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13386998	0.83[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13392156	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13402655	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13409706	0.87[AFR][1000 genomes]
rs13414973	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13417865	0.82[AFR][1000 genomes]
rs13418777	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs13421853	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13424099	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13424848	1.00[YRI][hapmap]
rs13428078	0.84[AFR][1000 genomes]
rs13430450	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1404457	0.91[CEU][hapmap]
rs1404460	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1568253	0.81[LWK][hapmap]
rs17182870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2717040	0.81[LWK][hapmap]
rs28391566	0.84[AFR][1000 genomes]
rs28452374	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34287580	0.89[EUR][1000 genomes]
rs35341336	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3755296	0.88[CEU][hapmap]
rs3771214	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771220	0.83[CEU][hapmap]
rs3771222	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6714952	0.83[CEU][hapmap];1.00[TSI][hapmap]
rs71418479	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71418480	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7558066	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7561771	0.91[CEU][hapmap]

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:93 , 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	chr2:58336400-58365000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:58338200-58365400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:58340600-58363000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:58340600-58367000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:58340600-58373600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:58346000-58384400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:58346600-58373600	Weak transcription	NHEK	skin
14	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:58347000-58360800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:58347200-58360200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:58347200-58373800	Weak transcription	Hela-S3	cervix
18	chr2:58347800-58369800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:58347800-58384000	Weak transcription	Fetal Kidney	kidney
20	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:58348000-58360600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:58348200-58360600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:58348400-58373400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:58348400-58373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:58348600-58382400	Weak transcription	Fetal Intestine Large	intestine
26	chr2:58348800-58365600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
28	chr2:58350400-58363600	Weak transcription	Right Ventricle	heart
29	chr2:58350400-58383800	Weak transcription	K562	blood
30	chr2:58350800-58367400	Weak transcription	Primary T cells from cord blood	blood
31	chr2:58350800-58370800	Weak transcription	Liver	Liver
32	chr2:58351000-58364600	Weak transcription	HUVEC	blood vessel
33	chr2:58351000-58371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:58351000-58382400	Weak transcription	Esophagus	oesophagus
35	chr2:58351000-58384600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:58351200-58362200	Weak transcription	Dnd41	blood
37	chr2:58351200-58365800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
39	chr2:58357000-58361000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:58357000-58363600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:58358000-58366400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:58358200-58359800	Enhancers	Colon Smooth Muscle	Colon
43	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:58358400-58359800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:58358400-58359800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:58358400-58359800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:58358400-58359800	Strong transcription	GM12878-XiMat	blood
48	chr2:58358400-58361400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr2:58358400-58361400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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