Variant report

Variant	rs12735124
Chromosome Location	chr1:226209787-226209788
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226204301..226206286-chr1:226208154..226209970,2	K562	blood:
2	chr1:226184960..226187333-chr1:226206537..226209915,3	K562	blood:
3	chr1:226207957..226211790-chr1:226247230..226252301,7	MCF-7	breast:
4	chr1:226208830..226211380-chr1:226216303..226218548,2	MCF-7	breast:
5	chr1:226186179..226191581-chr1:226205120..226212715,10	K562	blood:
6	chr1:226208374..226211010-chr1:226213387..226217163,4	K562	blood:
7	chr1:226187349..226189522-chr1:226208605..226211580,2	K562	blood:
8	chr1:226207205..226209894-chr1:226309049..226312004,2	K562	blood:
9	chr1:226205369..226210756-chr1:226213268..226218237,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12725688	0.82[CEU][hapmap]
rs12726662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12728649	0.86[EUR][1000 genomes]
rs12741523	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16845453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16845499	0.84[JPT][hapmap];1.00[YRI][hapmap]
rs16845535	0.85[JPT][hapmap];1.00[YRI][hapmap]
rs17514975	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2816323	0.82[JPT][hapmap]
rs2816324	0.92[JPT][hapmap]
rs2816326	0.91[JPT][hapmap]
rs34235986	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34897537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35065132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35336028	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36094219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3748813	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs4427371	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6698966	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71646760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71646761	0.93[EUR][1000 genomes]
rs71646762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71646763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226204600-226210600	Weak transcription	Colonic Mucosa	Colon
2	chr1:226205600-226215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:226207800-226215400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:226208600-226210200	Enhancers	Fetal Intestine Large	intestine
5	chr1:226208600-226210400	Enhancers	Fetal Intestine Small	intestine
6	chr1:226209000-226209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:226209000-226210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:226209000-226210200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:226209000-226210200	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:226209000-226210200	Enhancers	K562	blood
11	chr1:226209400-226210200	Enhancers	Stomach Mucosa	stomach

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