Variant report

Variant	rs2694578
Chromosome Location	chr7:128897508-128897509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128863759..128868024-chr7:128894474..128897636,4	MCF-7	breast:
2	chr7:128894179..128896664-chr7:128896998..128898691,2	MCF-7	breast:
3	chr7:128895520..128897910-chr7:128898805..128901095,3	K562	blood:
4	chr7:128891593..128894019-chr7:128897274..128899185,2	K562	blood:
5	chr19:1044541..1045041-chr7:128897386..128898290,2	K562	blood:
6	chr7:128896827..128899208-chr7:128904608..128906454,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10224011	1.00[ASN][1000 genomes]
rs10954227	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12533541	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2402951	1.00[ASN][1000 genomes]
rs2566878	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2566879	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2566884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2566887	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2694586	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2694589	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2694590	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703097	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718094	0.86[AFR][1000 genomes]
rs2718098	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4517061	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4731570	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467244	1.00[ASN][1000 genomes]
rs6969620	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7778993	0.82[EUR][1000 genomes]
rs7779572	1.00[ASN][1000 genomes]
rs7787531	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031284	chr7:128866118-128910506	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3349195	chr7:128887559-128918489	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128866000-128902200	Weak transcription	Gastric	stomach
2	chr7:128866200-128898600	Weak transcription	Thymus	Thymus
3	chr7:128866400-128899000	Weak transcription	Ovary	ovary
4	chr7:128866600-128901400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128867000-128898400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:128867200-128909800	Weak transcription	Primary B cells from cord blood	blood
7	chr7:128881000-128898800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:128882000-128899600	Weak transcription	Left Ventricle	heart
9	chr7:128884800-128898800	Weak transcription	Primary T cells from cord blood	blood
10	chr7:128885600-128898600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:128887200-128898600	Weak transcription	NHEK	skin
12	chr7:128892400-128898600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:128892600-128914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:128893200-128899000	Weak transcription	Psoas Muscle	Psoas
15	chr7:128895800-128898200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:128895800-128898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:128895800-128902200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:128896000-128898000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:128896600-128897600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:128896600-128898200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:128896800-128897600	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:128896800-128897800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:128896800-128899200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:128897000-128897600	Enhancers	Brain Substantia Nigra	brain
25	chr7:128897000-128897600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr7:128897000-128897800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:128897000-128898200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:128897000-128898200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:128897000-128898400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:128897000-128898800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:128897200-128897600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:128897200-128897800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr7:128897200-128898200	Enhancers	Brain Hippocampus Middle	brain
34	chr7:128897200-128898800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:128897200-128898800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:128897200-128900200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:128897400-128898400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:128897400-128898600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr7:128897400-128899400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:128897400-128900200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:128897400-128914200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:128897400-128919400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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