Variant report

Variant	rs17537088
Chromosome Location	chr7:128027749-128027750
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127988808..127989792-chr7:128027493..128028392,2	MCF-7	breast:
2	chr7:127987316..127989019-chr7:128027005..128028396,14	K562	blood:
3	chr7:127986440..127989411-chr7:128026158..128028647,3	MCF-7	breast:
4	chr7:128027409..128028270-chr7:128065556..128066474,2	K562	blood:
5	chr7:127992585..127993570-chr7:128027268..128027996,2	K562	blood:
6	chr7:127987695..127989209-chr7:128025745..128028216,2	MCF-7	breast:
7	chr7:127991021..127992566-chr7:128027560..128029110,2	MCF-7	breast:
8	chr7:127999931..128002106-chr7:128027139..128029392,2	MCF-7	breast:
9	chr7:127989814..127992283-chr7:128027367..128029799,2	MCF-7	breast:
10	chr7:127986462..127988750-chr7:128027167..128028806,32	MCF-7	breast:
11	chr7:128027615..128028518-chr7:128065500..128066027,2	MCF-7	breast:
12	chr7:127911086..127911789-chr7:128027439..128028326,2	K562	blood:
13	chr7:127987333..127988252-chr7:128027402..128028598,10	MCF-7	breast:
14	chr7:127985563..127989260-chr7:128027649..128030802,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224940	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10229394	0.82[CEU][hapmap]
rs1065267	0.94[CEU][hapmap]
rs11980741	0.83[CEU][hapmap]
rs1560214	0.83[CEU][hapmap]
rs2288548	0.83[CEU][hapmap]
rs2288549	0.82[CEU][hapmap]
rs4728108	0.83[CEU][hapmap]
rs4731448	0.83[CEU][hapmap]
rs4731453	0.83[CEU][hapmap]
rs4731454	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
3	chr7:128021400-128031200	Weak transcription	Lung	lung
4	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128021800-128031200	Weak transcription	A549	lung
6	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:128023200-128028000	Weak transcription	K562	blood
8	chr7:128024200-128029800	Weak transcription	Esophagus	oesophagus
9	chr7:128024200-128034600	Weak transcription	HMEC	breast
10	chr7:128024600-128031800	Weak transcription	Aorta	Aorta
11	chr7:128025200-128028200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:128025400-128027800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:128026000-128028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:128026600-128028400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:128026600-128030000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:128026600-128030200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:128026600-128030400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:128026800-128030400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:128027000-128027800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:128027000-128028000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:128027000-128028000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:128027000-128028200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:128027200-128027800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:128027200-128027800	Enhancers	Fetal Brain Male	brain
25	chr7:128027200-128027800	Bivalent Enhancer	Fetal Stomach	stomach
26	chr7:128027200-128027800	Enhancers	Ovary	ovary
27	chr7:128027200-128028000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr7:128027200-128028000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr7:128027200-128030200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:128027400-128027800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:128027400-128027800	Enhancers	Brain Anterior Caudate	brain
32	chr7:128027400-128027800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr7:128027400-128028000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr7:128027400-128028200	Enhancers	Adipose Nuclei	Adipose
35	chr7:128027400-128028200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr7:128027400-128028200	Enhancers	HSMM	muscle
37	chr7:128027600-128027800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr7:128027600-128027800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:128027600-128027800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:128027600-128027800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:128027600-128027800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:128027600-128027800	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:128027600-128027800	Enhancers	Fetal Thymus	thymus
44	chr7:128027600-128027800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:128027600-128028000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr7:128027600-128028000	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr7:128027600-128028000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr7:128027600-128028000	Active TSS	Fetal Brain Female	brain
49	chr7:128027600-128028000	Enhancers	Fetal Heart	heart
50	chr7:128027600-128028000	Bivalent Enhancer	Placenta	Placenta

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