Variant report

Variant	rs835567
Chromosome Location	chr1:120400847-120400848
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120400389..120402381-chr1:120411990..120414876,2	MCF-7	breast:
2	chr1:120396123..120397960-chr1:120398634..120401481,2	MCF-7	breast:
3	chr1:120395050..120396919-chr1:120400456..120403382,2	K562	blood:

Variant related genes	Relation type
ENSG00000227205	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17024243	1.00[EUR][1000 genomes]
rs17024274	1.00[EUR][1000 genomes]
rs2453043	1.00[EUR][1000 genomes]
rs2453045	1.00[EUR][1000 genomes]
rs2453050	1.00[AMR][1000 genomes]
rs2453054	1.00[EUR][1000 genomes]
rs2453057	1.00[EUR][1000 genomes]
rs2453060	1.00[EUR][1000 genomes]
rs2493393	1.00[EUR][1000 genomes]
rs2493395	1.00[EUR][1000 genomes]
rs2493397	1.00[EUR][1000 genomes]
rs2493399	1.00[EUR][1000 genomes]
rs2493409	1.00[EUR][1000 genomes]
rs2641341	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2793828	1.00[EUR][1000 genomes]
rs2793924	1.00[EUR][1000 genomes]
rs3009200	1.00[AMR][1000 genomes]
rs34996202	1.00[EUR][1000 genomes]
rs4274109	1.00[EUR][1000 genomes]
rs59055697	1.00[EUR][1000 genomes]
rs60594933	1.00[EUR][1000 genomes]
rs6673881	1.00[EUR][1000 genomes]
rs6689706	1.00[EUR][1000 genomes]
rs6690032	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6697236	1.00[EUR][1000 genomes]
rs74115097	1.00[EUR][1000 genomes]
rs74115360	1.00[EUR][1000 genomes]
rs74115365	1.00[EUR][1000 genomes]
rs7524672	1.00[AMR][1000 genomes]
rs7536072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537153	1.00[EUR][1000 genomes]
rs7537385	1.00[EUR][1000 genomes]
rs7540526	1.00[EUR][1000 genomes]
rs835564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs835566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs835569	1.00[AMR][1000 genomes]
rs835571	1.00[AMR][1000 genomes]
rs835577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv872180	chr1:120366055-120412885	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv946187	chr1:120370078-120406007	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv10672	chr1:120386985-120410007	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120396000-120402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:120400200-120402400	Enhancers	Fetal Intestine Large	intestine
3	chr1:120400400-120402600	Enhancers	Fetal Intestine Small	intestine
4	chr1:120400600-120401000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:120400600-120401000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:120400600-120401400	Enhancers	HepG2	liver
7	chr1:120400600-120401800	Enhancers	K562	blood
8	chr1:120400800-120401000	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:120400800-120401000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:120400800-120401800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:120400800-120401800	Enhancers	Dnd41	blood
12	chr1:120400800-120402400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:120400800-120403200	Enhancers	HUVEC	blood vessel
14	chr1:120400800-120404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:120400800-120404200	Enhancers	Fetal Muscle Leg	muscle
16	chr1:120400800-120405000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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