Variant report

Variant	rs1053701
Chromosome Location	chr1:150594701-150594702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150593699..150596030-chr1:150782553..150785002,2	MCF-7	breast:
2	chr1:150594135..150596924-chr1:150761551..150763711,2	K562	blood:
3	chr1:150541260..150543731-chr1:150592765..150595245,2	K562	blood:
4	chr1:150593246..150595574-chr1:150619847..150621910,2	MCF-7	breast:
5	chr1:150548506..150553393-chr1:150590797..150599175,18	MCF-7	breast:
6	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
7	chr1:150531963..150536011-chr1:150591447..150597197,8	K562	blood:
8	chr1:150532182..150537720-chr1:150588719..150604935,28	MCF-7	breast:
9	chr1:150593612..150595212-chr17:42186172..42188661,2	K562	blood:
10	chr1:150503877..150505542-chr1:150592615..150595135,2	K562	blood:
11	chr1:150532035..150536180-chr1:150591447..150597251,6	K562	blood:
12	chr1:150531290..150540028-chr1:150591374..150603951,29	MCF-7	breast:
13	chr1:150594170..150596562-chr1:150607857..150610063,2	MCF-7	breast:
14	chr1:150533729..150534519-chr1:150593684..150594861,3	MCF-7	breast:
15	chr1:150548467..150555490-chr1:150590800..150598161,17	MCF-7	breast:
16	chr1:150593159..150595825-chr1:150978861..150980530,2	K562	blood:
17	chr1:150544073..150554289-chr1:150582699..150598712,61	K562	blood:
18	chr1:150545274..150547768-chr1:150592688..150595152,4	MCF-7	breast:
19	chr1:150591621..150596223-chr1:150788180..150792847,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203804	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000264584	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143437	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11204665	0.91[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[MKK][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11204674	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204689	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11204700	0.83[EUR][1000 genomes]
rs11204727	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs11576175	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs11585460	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12031458	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12032445	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12034302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12036914	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12038403	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12042580	0.87[ASN][1000 genomes]
rs12045807	0.92[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16840074	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs28744536	0.85[ASN][1000 genomes]
rs3754207	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4379678	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap]
rs4970970	0.90[EUR][1000 genomes]
rs55890313	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60060012	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61817598	0.80[EUR][1000 genomes]
rs61820166	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61820168	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61820170	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6587515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6587517	0.90[EUR][1000 genomes]
rs6672667	0.93[CHB][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7517	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520511	0.82[EUR][1000 genomes]
rs7520516	0.82[EUR][1000 genomes]
rs7543465	0.91[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.85[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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150584400-150594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:150584400-150600600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:150584800-150596200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:150584800-150600200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:150585000-150600000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:150585200-150600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:150586600-150600400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:150587800-150596200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:150587800-150598800	Strong transcription	Dnd41	blood
10	chr1:150587800-150600000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:150587800-150600400	Strong transcription	Brain Germinal Matrix	brain
12	chr1:150588200-150595200	Weak transcription	Spleen	Spleen
13	chr1:150588200-150600200	Strong transcription	Fetal Intestine Large	intestine
14	chr1:150588600-150595200	Weak transcription	Esophagus	oesophagus
15	chr1:150588600-150601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:150588800-150595200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:150591200-150594800	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr1:150591400-150596400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:150591400-150599800	Strong transcription	Fetal Brain Female	brain
20	chr1:150591600-150599800	Strong transcription	Fetal Lung	lung
21	chr1:150591600-150600000	Strong transcription	Thymus	Thymus
22	chr1:150591800-150594800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:150591800-150595400	Genic enhancers	Primary B cells from cord blood	blood
24	chr1:150591800-150595400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:150591800-150596000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:150591800-150596200	Genic enhancers	NHEK	skin
27	chr1:150591800-150597200	Genic enhancers	Hela-S3	cervix
28	chr1:150591800-150600600	Genic enhancers	HMEC	breast
29	chr1:150592000-150595000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:150592000-150595200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:150592000-150595800	Genic enhancers	Primary hematopoietic stem cells	blood
32	chr1:150592000-150595800	Genic enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:150592000-150596600	Genic enhancers	HUVEC	blood vessel
34	chr1:150592000-150599600	Strong transcription	Fetal Kidney	kidney
35	chr1:150592200-150595000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:150592200-150595000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr1:150592200-150595000	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr1:150592200-150595000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:150592200-150595400	Genic enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:150592200-150599000	Genic enhancers	K562	blood
41	chr1:150592400-150595000	Enhancers	Left Ventricle	heart
42	chr1:150592600-150595800	Enhancers	Right Atrium	heart
43	chr1:150592600-150600400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:150592800-150595600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:150592800-150600200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:150592800-150600200	Strong transcription	Fetal Intestine Small	intestine
47	chr1:150593000-150595400	Genic enhancers	Monocytes-CD14+_RO01746	blood
48	chr1:150593000-150595600	Enhancers	Fetal Heart	heart
49	chr1:150593000-150595800	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr1:150593000-150595800	Genic enhancers	NHLF	lung

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