Variant report

Variant	rs225259
Chromosome Location	chr17:33958168-33958169
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	chr17:33952642..33955408-chr17:33957507..33960024,3	K562	blood:
2	chr17:33958136..33960077-chr17:33969151..33971266,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1037590	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1037592	0.83[ASN][1000 genomes]
rs10512472	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11080357	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11653310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs11653357	0.80[ASN][1000 genomes]
rs11655803	0.81[ASN][1000 genomes]
rs11656138	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12452797	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12604067	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12947592	0.83[ASN][1000 genomes]
rs12948669	0.80[ASN][1000 genomes]
rs1671656	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971217	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs16971227	0.81[ASN][1000 genomes]
rs17637907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs225243	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225247	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225251	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225254	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225262	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225277	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225285	0.90[CEU][hapmap]
rs225295	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225304	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225306	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2840044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28667378	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35237539	0.80[ASN][1000 genomes]
rs7212704	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8069037	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8073935	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9890191	0.82[ASN][1000 genomes]
rs9891574	0.83[ASN][1000 genomes]
rs9891800	0.90[EUR][1000 genomes]
rs9897552	0.80[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9899860	0.81[ASN][1000 genomes]
rs9899927	0.81[ASN][1000 genomes]
rs9900378	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9907772	0.81[ASN][1000 genomes]
rs9908158	0.83[EUR][1000 genomes]
rs9913003	0.90[EUR][1000 genomes]
rs9913875	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1062793	chr17:33944732-33976685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
8	chr17:33933600-33967400	Weak transcription	Gastric	stomach
9	chr17:33937400-33965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:33940000-33960000	Weak transcription	Right Ventricle	heart
11	chr17:33947000-33958200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:33948400-33973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:33948600-33958200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr17:33948600-33973600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr17:33949800-33958800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:33950400-33965400	Strong transcription	HSMM	muscle
20	chr17:33950600-33958200	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:33950600-33959000	Strong transcription	Placenta	Placenta
22	chr17:33950600-33959000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr17:33950600-33968600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:33950600-33973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr17:33950800-33958200	Strong transcription	Fetal Lung	lung
26	chr17:33950800-33958200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:33950800-33959000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr17:33950800-33959200	Strong transcription	K562	blood
29	chr17:33950800-33959400	Strong transcription	Dnd41	blood
30	chr17:33950800-33973400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:33950800-33975400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr17:33950800-33975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:33950800-33978800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:33951000-33958200	Strong transcription	Primary T cells from cord blood	blood
35	chr17:33951000-33958200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr17:33951000-33958200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr17:33951200-33958200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr17:33951200-33958200	Strong transcription	Fetal Muscle Leg	muscle
39	chr17:33951200-33958800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr17:33951200-33958800	Strong transcription	Adipose Nuclei	Adipose
41	chr17:33951200-33960600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:33951200-33971800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr17:33951400-33958200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr17:33951400-33958200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr17:33951400-33958400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:33951400-33958800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:33951400-33958800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:33951400-33959000	Strong transcription	Primary B cells from cord blood	blood
49	chr17:33951400-33970800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr17:33951400-33973400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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