Variant report

Variant	rs225262
Chromosome Location	chr17:33959697-33959698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33959378..33962063-chr17:33964670..33966856,2	K562	blood:
2	chr17:33952642..33955408-chr17:33957507..33960024,3	K562	blood:
3	chr17:33951186..33955408-chr17:33958518..33961561,4	K562	blood:
4	chr17:33958136..33960077-chr17:33969151..33971266,2	K562	blood:

Variant related genes	Relation type
ENSG00000006125	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10068	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1037590	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1037592	0.84[ASN][1000 genomes]
rs10512472	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11080357	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11653310	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs11653357	0.81[ASN][1000 genomes]
rs11655803	0.83[ASN][1000 genomes]
rs11656138	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11868206	0.81[ASN][1000 genomes]
rs12452797	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12604067	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12947592	0.84[ASN][1000 genomes]
rs12948669	0.81[ASN][1000 genomes]
rs1671656	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971217	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs16971227	0.83[ASN][1000 genomes]
rs17637907	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs225243	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225259	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];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225285	0.90[CEU][hapmap]
rs225295	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225304	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225306	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2840044	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs28667378	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35237539	0.81[ASN][1000 genomes]
rs7212704	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8069037	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8073935	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890191	0.83[ASN][1000 genomes]
rs9891574	0.84[ASN][1000 genomes]
rs9891800	0.88[EUR][1000 genomes]
rs9897552	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9899860	0.82[ASN][1000 genomes]
rs9899927	0.82[ASN][1000 genomes]
rs9900378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9907772	0.82[ASN][1000 genomes]
rs9908158	0.81[EUR][1000 genomes]
rs9913003	0.88[EUR][1000 genomes]
rs9913875	0.82[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	chr17:33948400-33973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr17:33948600-33973600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:33950400-33965400	Strong transcription	HSMM	muscle
17	chr17:33950600-33968600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:33950600-33973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr17:33950800-33973400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:33950800-33975400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr17:33950800-33975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:33950800-33978800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:33951200-33960600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:33951200-33971800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr17:33951400-33970800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr17:33951400-33973400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:33951400-33973600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:33954200-33982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:33954400-33961200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:33954600-33962800	Weak transcription	Colon Smooth Muscle	Colon
31	chr17:33954600-33963400	Weak transcription	Brain Hippocampus Middle	brain
32	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
34	chr17:33954800-33963200	Weak transcription	Brain Substantia Nigra	brain
35	chr17:33954800-33963400	Weak transcription	Hela-S3	cervix
36	chr17:33954800-33967400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:33954800-33968000	Weak transcription	Psoas Muscle	Psoas
38	chr17:33955400-33962000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:33955400-33962400	Weak transcription	Spleen	Spleen
40	chr17:33955400-33962600	Weak transcription	Colonic Mucosa	Colon
41	chr17:33955400-33962600	Weak transcription	Small Intestine	intestine
42	chr17:33955400-33963400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:33955600-33962400	Weak transcription	Aorta	Aorta
44	chr17:33955600-33964200	Weak transcription	Pancreas	Pancrea
45	chr17:33955800-33961800	Weak transcription	Fetal Thymus	thymus
46	chr17:33955800-33962000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr17:33956000-33961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:33956200-33960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:33956200-33961800	Weak transcription	Thymus	Thymus
50	chr17:33956200-33962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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