Variant report

Variant	rs214849
Chromosome Location	chr7:110779449-110779450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1014269	0.91[EUR][1000 genomes]
rs1014270	0.84[EUR][1000 genomes]
rs1014271	0.91[EUR][1000 genomes]
rs10237613	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241771	1.00[EUR][1000 genomes]
rs10257531	1.00[EUR][1000 genomes]
rs10269177	0.96[EUR][1000 genomes]
rs12705758	1.00[EUR][1000 genomes]
rs13238719	0.91[EUR][1000 genomes]
rs214841	1.00[EUR][1000 genomes]
rs214842	0.96[EUR][1000 genomes]
rs214844	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214845	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs214846	1.00[EUR][1000 genomes]
rs214847	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs214848	0.96[EUR][1000 genomes]
rs214850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214853	1.00[EUR][1000 genomes]
rs214854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214855	1.00[EUR][1000 genomes]
rs214856	1.00[EUR][1000 genomes]
rs214857	1.00[EUR][1000 genomes]
rs214858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214860	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214861	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214862	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214863	1.00[EUR][1000 genomes]
rs214864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214866	1.00[EUR][1000 genomes]
rs214867	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214868	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs214869	1.00[EUR][1000 genomes]
rs214870	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs214871	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214872	1.00[EUR][1000 genomes]
rs214873	1.00[EUR][1000 genomes]
rs214874	1.00[EUR][1000 genomes]
rs214877	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214878	1.00[EUR][1000 genomes]
rs214879	1.00[EUR][1000 genomes]
rs214880	1.00[EUR][1000 genomes]
rs214881	1.00[EUR][1000 genomes]
rs214882	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs214886	1.00[EUR][1000 genomes]
rs214887	1.00[EUR][1000 genomes]
rs214894	0.96[EUR][1000 genomes]
rs2160024	0.91[EUR][1000 genomes]
rs2396302	0.83[EUR][1000 genomes]
rs28590134	1.00[EUR][1000 genomes]
rs4236594	0.91[EUR][1000 genomes]
rs4730474	0.91[EUR][1000 genomes]
rs57817514	1.00[EUR][1000 genomes]
rs57971786	0.96[EUR][1000 genomes]
rs58799975	1.00[EUR][1000 genomes]
rs59902560	0.91[EUR][1000 genomes]
rs60913915	1.00[EUR][1000 genomes]
rs6466372	0.83[EUR][1000 genomes]
rs6945175	0.91[EUR][1000 genomes]
rs6964177	0.83[EUR][1000 genomes]
rs7783424	0.96[EUR][1000 genomes]
rs7790427	0.91[EUR][1000 genomes]
rs7801913	0.83[EUR][1000 genomes]
rs7801960	0.83[EUR][1000 genomes]
rs7802954	0.91[EUR][1000 genomes]
rs7808895	0.91[EUR][1000 genomes]
rs996595	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv608154	chr7:110688993-110945501	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv608155	chr7:110722482-111351512	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv1035119	chr7:110745019-111258501	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1033647	chr7:110766750-110923436	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1016762	chr7:110769068-110883479	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1029168	chr7:110771561-110818458	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv888976	chr7:110773099-110959881	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv464674	chr7:110776037-110861883	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv608156	chr7:110776037-110861883	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110776600-110779800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:110776800-110780000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:110777400-110780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:110777600-110780200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:110777600-110780600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:110777800-110780400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:110777800-110780400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr7:110777800-110780400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:110778000-110779600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr7:110778000-110787400	Weak transcription	Aorta	Aorta
11	chr7:110778200-110780600	Enhancers	Colon Smooth Muscle	Colon
12	chr7:110778400-110780400	Enhancers	Hela-S3	cervix
13	chr7:110778400-110784400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:110778800-110780400	Enhancers	Dnd41	blood
15	chr7:110778800-110780800	Enhancers	Primary T cells from cord blood	blood
16	chr7:110779000-110780000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:110779000-110780400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:110779200-110779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:110779400-110780200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:110779400-110780200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:110779400-110780400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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