Variant report

Variant	rs1987514
Chromosome Location	chr7:21294008-21294009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21030868..21031815-chr7:21293621..21294401,4	MCF-7	breast:
2	chr7:21030959..21031728-chr7:21293405..21294297,3	MCF-7	breast:
3	chr7:20817346..20818628-chr7:21292935..21294499,9	MCF-7	breast:
4	chr7:20817351..20817907-chr7:21293750..21294298,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12665947	1.00[AMR][1000 genomes]
rs12667180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12667518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12670038	0.85[CHB][hapmap]
rs12671297	1.00[AMR][1000 genomes]
rs12672762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674300	1.00[AMR][1000 genomes]
rs16872681	1.00[AMR][1000 genomes]
rs16872692	1.00[AMR][1000 genomes]
rs16872749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16872771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17143826	1.00[AMR][1000 genomes]
rs17143829	1.00[AMR][1000 genomes]
rs17143840	1.00[AMR][1000 genomes]
rs17143848	1.00[AMR][1000 genomes]
rs17143860	1.00[AMR][1000 genomes]
rs17143868	1.00[AMR][1000 genomes]
rs17143883	1.00[AMR][1000 genomes]
rs17143886	1.00[AMR][1000 genomes]
rs17143902	1.00[AMR][1000 genomes]
rs17143906	1.00[AMR][1000 genomes]
rs17144165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17144175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17144266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17144289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2390476	1.00[AMR][1000 genomes]
rs34111257	1.00[AMR][1000 genomes]
rs4140957	1.00[AMR][1000 genomes]
rs4140958	1.00[AMR][1000 genomes]
rs4719643	1.00[AMR][1000 genomes]
rs4719659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4721983	1.00[AMR][1000 genomes]
rs4721987	1.00[AMR][1000 genomes]
rs4721989	1.00[AMR][1000 genomes]
rs4721990	1.00[AMR][1000 genomes]
rs4721997	1.00[CHB][hapmap]
rs4721999	0.84[ASN][1000 genomes]
rs58578432	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60488575	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6970515	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6980287	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73682328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73685049	1.00[AMR][1000 genomes]
rs964303	1.00[AMR][1000 genomes]

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	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1020852	chr7:21060791-21375050	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538799	chr7:21060791-21375050	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016705	chr7:21257416-21450943	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1792113	chr7:21271536-21298108	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21291400-21294600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:21293600-21294200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:21293600-21294200	Bivalent/Poised TSS	Aorta	Aorta
4	chr7:21293600-21294400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
5	chr7:21293600-21294600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:21293800-21294200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr7:21293800-21294400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr7:21293800-21294600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:21293800-21301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:21293800-21310600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:21294000-21294200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:21294000-21294200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:21294000-21294200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:21294000-21294200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr7:21294000-21294200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:21294000-21294200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:21294000-21294400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr7:21294000-21294400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:21294000-21294400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:21294000-21294400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr7:21294000-21294600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr7:21294000-21294600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:21294000-21294800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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