Variant report

Variant	rs1002125
Chromosome Location	chr1:174936797-174936798
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174935689..174937762-chr1:174956514..174958986,2	MCF-7	breast:
2	chr1:174936174..174937775-chr1:174941004..174942610,2	MCF-7	breast:
3	chr1:174935930..174937923-chr1:174967731..174970024,2	K562	blood:
4	chr1:174935713..174937264-chr1:174965663..174967538,2	K562	blood:
5	chr1:174927580..174945830-chr1:174955726..174971213,32	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction
ENSG00000252552	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10489333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912849	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10912850	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10912870	0.85[ASN][1000 genomes]
rs12065854	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12066247	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12068100	0.84[AFR][1000 genomes]
rs12068637	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12073786	0.84[AFR][1000 genomes]
rs12074821	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12087196	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087589	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12088588	0.81[ASN][1000 genomes]
rs12562194	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12565944	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12566477	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16847450	0.81[AMR][1000 genomes]
rs16847563	0.84[AMR][1000 genomes]
rs16847633	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847706	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285209	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41266068	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41266072	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57366106	0.82[AMR][1000 genomes]
rs61828087	0.81[AMR][1000 genomes]
rs61828088	0.81[AMR][1000 genomes]
rs61828117	0.90[AMR][1000 genomes]
rs61828121	0.87[AMR][1000 genomes]
rs61828143	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828144	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828149	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61828152	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828156	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828157	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:174924000-174938200	Weak transcription	Psoas Muscle	Psoas
4	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:174924400-174958200	Weak transcription	Fetal Brain Male	brain
6	chr1:174925000-174940800	Weak transcription	Gastric	stomach
7	chr1:174928000-174938200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:174930800-174937800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:174932000-174938400	Enhancers	Fetal Intestine Small	intestine
10	chr1:174932600-174941600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:174932800-174937000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:174932800-174937600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:174932800-174938400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:174932800-174939000	Enhancers	Fetal Intestine Large	intestine
15	chr1:174933000-174953600	Weak transcription	Fetal Heart	heart
16	chr1:174933400-174937600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr1:174933600-174938800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr1:174933800-174937200	Weak transcription	A549	lung
19	chr1:174934000-174937400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:174934000-174938200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:174934200-174937200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr1:174934600-174943800	Weak transcription	Pancreas	Pancrea
23	chr1:174934800-174937000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:174934800-174937600	Enhancers	Liver	Liver
25	chr1:174934800-174940400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:174934800-174943800	Weak transcription	Aorta	Aorta
27	chr1:174935000-174937400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:174935000-174938000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:174935000-174938000	Weak transcription	Thymus	Thymus
30	chr1:174935000-174938200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:174935000-174942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:174935000-174943800	Weak transcription	Lung	lung
33	chr1:174935000-174959000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:174935000-174964000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:174935000-174967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:174935200-174936800	Weak transcription	GM12878-XiMat	blood
37	chr1:174935200-174937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:174935200-174937400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:174935200-174937800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:174935200-174938000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:174935200-174938200	Weak transcription	Fetal Stomach	stomach
42	chr1:174935200-174938200	Weak transcription	HMEC	breast
43	chr1:174935200-174938400	Weak transcription	Left Ventricle	heart
44	chr1:174935200-174939000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:174935200-174943400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:174935200-174943400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:174935200-174943800	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:174935200-174959000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:174935200-174959600	Weak transcription	Esophagus	oesophagus
50	chr1:174935400-174937200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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