Variant report

Variant	rs2727501
Chromosome Location	chr7:129472281-129472282
allele	C/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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129469764..129472674-chr7:129485963..129488214,2	K562	blood:
2	chr7:129469744..129473001-chr7:129646960..129649932,3	K562	blood:
3	chr7:129249214..129251582-chr7:129470289..129473401,3	K562	blood:
4	chr7:129469886..129472381-chr7:129587283..129590699,3	MCF-7	breast:
5	chr7:129468043..129473404-chr7:129589451..129593815,6	MCF-7	breast:
6	chr7:129463253..129467439-chr7:129470010..129474375,4	K562	blood:
7	chr7:129470865..129472484-chr7:129587803..129590371,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3HC1-4	chr7:129470575-129472418	NONHSAT123314

No data

Variant related genes	Relation type
ENSG00000106459	Chromatin interaction
ENSG00000273329	Chromatin interaction
ENSG00000244036	Chromatin interaction
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1725079	1.00[EUR][1000 genomes]
rs2255639	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2631601	0.93[YRI][hapmap]
rs2631604	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2631609	0.80[AFR][1000 genomes]
rs2693722	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693741	1.00[EUR][1000 genomes]
rs2693742	1.00[EUR][1000 genomes]
rs2693743	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693747	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693748	1.00[EUR][1000 genomes]
rs2708641	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2708653	1.00[YRI][hapmap]
rs2727459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727460	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727461	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727465	1.00[EUR][1000 genomes]
rs2727467	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2727476	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2727480	1.00[EUR][1000 genomes]
rs2727481	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727485	1.00[EUR][1000 genomes]
rs2727494	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727495	1.00[EUR][1000 genomes]
rs73469781	1.00[EUR][1000 genomes]
rs73469795	1.00[EUR][1000 genomes]
rs7804954	1.00[EUR][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129466200-129475200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:129466200-129483800	Weak transcription	Dnd41	blood
3	chr7:129466400-129483400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:129469000-129472400	Enhancers	Right Ventricle	heart
5	chr7:129469400-129472400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr7:129469600-129472600	Enhancers	Left Ventricle	heart
7	chr7:129469600-129473000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:129469800-129472400	Enhancers	Aorta	Aorta
9	chr7:129470000-129480400	Weak transcription	Fetal Brain Male	brain
10	chr7:129470200-129472400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:129470400-129472400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:129470400-129472400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:129470400-129472400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:129470400-129472400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr7:129470400-129472400	Enhancers	K562	blood
16	chr7:129470400-129472600	Enhancers	Right Atrium	heart
17	chr7:129470400-129472800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:129470400-129472800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:129470400-129473000	Enhancers	NHDF-Ad	bronchial
20	chr7:129470400-129473200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:129470400-129473200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:129470400-129473400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:129470400-129473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:129470400-129473600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:129470400-129473600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:129470400-129473600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:129470400-129473800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:129470400-129473800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:129470400-129474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:129470400-129474200	Weak transcription	Small Intestine	intestine
31	chr7:129470400-129475000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:129470400-129480200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:129470400-129480400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:129470400-129480600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:129470400-129480800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:129470400-129480800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:129470400-129483600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:129470600-129472400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:129470600-129472400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:129470600-129473600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:129470600-129473600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:129470600-129473800	Weak transcription	Fetal Brain Female	brain
43	chr7:129470600-129473800	Weak transcription	HepG2	liver
44	chr7:129470600-129474800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:129470600-129475200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:129470600-129480400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:129470600-129480600	Weak transcription	Brain Angular Gyrus	brain
48	chr7:129470800-129472600	Weak transcription	Fetal Kidney	kidney
49	chr7:129470800-129475000	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:129470800-129479000	Strong transcription	Fetal Intestine Small	intestine

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