Variant report

Variant	rs2529193
Chromosome Location	chr7:101387561-101387562
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101383707..101389205-chr7:101455835..101460728,14	MCF-7	breast:
2	chr7:101374945..101377549-chr7:101385778..101388199,3	K562	blood:
3	chr7:101386153..101388465-chr7:101446824..101448422,2	MCF-7	breast:
4	chr7:101383858..101388453-chr7:101455921..101461745,10	K562	blood:
5	chr7:101385593..101388435-chr7:101388835..101390401,2	K562	blood:
6	chr7:101342072..101344254-chr7:101386656..101389051,3	MCF-7	breast:
7	chr7:101375406..101379067-chr7:101385960..101390621,6	MCF-7	breast:
8	chr7:101374945..101377506-chr7:101385778..101388397,3	K562	blood:
9	chr7:101384444..101389414-chr7:101389757..101394090,5	MCF-7	breast:
10	chr7:101385593..101388435-chr7:101388835..101390929,3	K562	blood:
11	chr7:101381459..101384895-chr7:101386139..101388176,3	K562	blood:
12	chr7:101383224..101388686-chr7:101455921..101460973,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2529192	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529194	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2529198	0.83[ASN][1000 genomes]
rs2529200	0.82[ASN][1000 genomes]
rs2529202	0.82[AMR][1000 genomes]
rs2529236	0.91[AMR][1000 genomes]
rs2690935	0.82[ASN][1000 genomes]
rs2690936	0.83[ASN][1000 genomes]
rs2690941	0.83[ASN][1000 genomes]
rs2690948	0.80[AMR][1000 genomes]
rs954757	0.81[ASN][1000 genomes]
rs954758	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101385600-101388000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:101386400-101387800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:101386400-101387800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:101386600-101387600	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr7:101386600-101387800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:101386600-101387800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:101387000-101387600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr7:101387000-101387600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:101387000-101387600	Enhancers	Pancreas	Pancrea
10	chr7:101387000-101387600	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr7:101387000-101387600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr7:101387200-101387600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr7:101387200-101387600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:101387200-101387600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:101387200-101387600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:101387200-101387600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:101387200-101387600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:101387200-101387600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr7:101387200-101387600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr7:101387200-101387600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr7:101387200-101387600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:101387200-101387600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:101387200-101387600	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr7:101387200-101387600	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr7:101387200-101387600	Flanking Active TSS	Fetal Thymus	thymus
26	chr7:101387200-101387600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr7:101387200-101387600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:101387200-101387600	Flanking Active TSS	Dnd41	blood
29	chr7:101387200-101387600	Flanking Active TSS	Hela-S3	cervix
30	chr7:101387200-101387600	Flanking Active TSS	K562	blood
31	chr7:101387200-101387800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:101387200-101387800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr7:101387200-101387800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr7:101387200-101387800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr7:101387200-101388000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:101387200-101388000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:101387200-101388000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:101387200-101388000	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr7:101387200-101388000	Flanking Active TSS	GM12878-XiMat	blood
40	chr7:101387200-101388200	Enhancers	Primary B cells from peripheral blood	blood
41	chr7:101387200-101388600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:101387200-101391400	Weak transcription	Ovary	ovary
43	chr7:101387400-101387600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:101387400-101387600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:101387400-101387600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:101387400-101387600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:101387400-101387600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:101387400-101387600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:101387400-101387600	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr7:101387400-101387600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links