Variant report

Variant	rs41281725
Chromosome Location	chr7:127484598-127484599
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127481994..127486437-chr7:127486807..127490045,4	K562	blood:
2	chr7:127481717..127483487-chr7:127483506..127486200,2	MCF-7	breast:
3	chr7:127483137..127486168-chr7:127489858..127492815,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2286909	1.00[AFR][1000 genomes]
rs3757772	0.87[EUR][1000 genomes]
rs3808113	1.00[AFR][1000 genomes]
rs55679923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55726025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55764223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56101548	1.00[EUR][1000 genomes]
rs56279409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361057	1.00[EUR][1000 genomes];1.00[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
2	chr7:127457000-127497800	Weak transcription	Gastric	stomach
3	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
5	chr7:127461600-127485600	Weak transcription	HSMMtube	muscle
6	chr7:127469400-127488800	Weak transcription	Thymus	Thymus
7	chr7:127471800-127495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:127474000-127495800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:127474200-127485200	Weak transcription	Hela-S3	cervix
10	chr7:127474200-127490400	Weak transcription	NHLF	lung
11	chr7:127474400-127486800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:127476200-127487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:127476600-127496400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:127477600-127484600	Weak transcription	Fetal Kidney	kidney
15	chr7:127477800-127493200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:127478200-127484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:127478200-127487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:127478400-127488600	Weak transcription	A549	lung
19	chr7:127479000-127486000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:127479200-127484800	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:127479400-127484600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:127479600-127487800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:127479600-127487800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:127479600-127493200	Weak transcription	Fetal Lung	lung
25	chr7:127480400-127487800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:127480600-127487800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:127480800-127484800	Weak transcription	NHDF-Ad	bronchial
28	chr7:127480800-127488000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:127481200-127488000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:127481400-127487600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:127481400-127501000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:127481600-127484600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr7:127481600-127484800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:127481600-127485400	Strong transcription	GM12878-XiMat	blood
35	chr7:127481600-127489800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:127481800-127485200	Strong transcription	Primary B cells from cord blood	blood
37	chr7:127481800-127495600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:127482200-127485800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:127482200-127492000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:127482400-127486800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:127482600-127486600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:127483000-127487000	Strong transcription	HMEC	breast
44	chr7:127483200-127486200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:127483200-127486400	Strong transcription	Dnd41	blood
46	chr7:127483200-127486800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:127483200-127488000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:127483200-127490600	Strong transcription	Primary T cells from cord blood	blood
49	chr7:127483200-127491200	Strong transcription	HepG2	liver
50	chr7:127483200-127497600	Weak transcription	Small Intestine	intestine

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