Variant report

Variant	rs17049351
Chromosome Location	chr2:58346966-58346967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10445895	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10445896	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17049270	0.81[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs17049296	0.81[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17049298	0.81[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17049318	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049334	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049339	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049366	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17614198	0.80[CEU][hapmap]
rs2196806	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771204	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771206	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771211	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771212	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246409	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57471952	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59378271	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60152647	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73942293	0.90[EUR][1000 genomes]
rs7577299	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription 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	26 gene(s)	inside rSNPs	diseases
3	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58282600-58350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:58303000-58358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:58311200-58382400	Weak transcription	Aorta	Aorta
4	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:58318200-58373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:58319400-58358400	Weak transcription	Ovary	ovary
7	chr2:58319800-58349800	Weak transcription	Primary T cells from cord blood	blood
8	chr2:58319800-58350800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:58319800-58359000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:58319800-58367200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:58320000-58347600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:58320000-58359000	Weak transcription	Left Ventricle	heart
13	chr2:58322200-58347400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:58322600-58349800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:58322600-58350400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:58323200-58347600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:58323200-58350400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:58323600-58350200	Weak transcription	Liver	Liver
19	chr2:58326400-58347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:58327000-58347600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:58332400-58370800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:58335200-58348200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:58335600-58347800	Weak transcription	Adipose Nuclei	Adipose
24	chr2:58335800-58350600	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:58335800-58358600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:58336400-58365000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:58337000-58358600	Weak transcription	NHLF	lung
28	chr2:58337200-58358400	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:58338000-58358400	Weak transcription	Fetal Stomach	stomach
30	chr2:58338200-58347000	Weak transcription	GM12878-XiMat	blood
31	chr2:58338200-58365400	Weak transcription	Fetal Intestine Small	intestine
32	chr2:58338400-58347000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:58338600-58347600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:58338800-58359000	Weak transcription	HepG2	liver
35	chr2:58339000-58350000	Weak transcription	Dnd41	blood
36	chr2:58340000-58358400	Weak transcription	NH-A	brain
37	chr2:58340200-58347000	Weak transcription	NHDF-Ad	bronchial
38	chr2:58340200-58349600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:58340600-58347600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:58340600-58349000	Weak transcription	Osteobl	bone
41	chr2:58340600-58349800	Weak transcription	HUVEC	blood vessel
42	chr2:58340600-58350200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:58340600-58358400	Weak transcription	HMEC	breast
44	chr2:58340600-58363000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:58340600-58367000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:58340600-58373600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:58341000-58349600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:58341000-58350000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:58345200-58347600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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