Variant report

Variant	rs35044089
Chromosome Location	chr12:48004664-48004665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47995378..47998174-chr12:48001804..48005197,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12422974	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12423045	0.82[EUR][1000 genomes]
rs12423789	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12426347	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12426387	0.94[AMR][1000 genomes]
rs12426849	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2020962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7303895	0.82[EUR][1000 genomes]
rs7304743	0.82[EUR][1000 genomes]
rs73102120	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102125	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102127	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102140	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102148	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102151	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102166	0.86[EUR][1000 genomes]
rs73102168	0.86[EUR][1000 genomes]
rs73102171	0.86[EUR][1000 genomes]
rs73102188	0.82[EUR][1000 genomes]
rs73102195	0.82[EUR][1000 genomes]
rs73102201	0.82[EUR][1000 genomes]
rs73104103	0.82[EUR][1000 genomes]
rs73104104	0.82[EUR][1000 genomes]
rs73104111	0.82[EUR][1000 genomes]
rs73104115	0.82[EUR][1000 genomes]
rs73104116	0.82[EUR][1000 genomes]
rs73104138	0.82[EUR][1000 genomes]
rs73104143	0.82[EUR][1000 genomes]
rs73104144	0.82[EUR][1000 genomes]
rs73104148	0.82[EUR][1000 genomes]
rs73104152	0.82[EUR][1000 genomes]
rs73104155	0.82[EUR][1000 genomes]
rs73104161	0.82[EUR][1000 genomes]
rs73104163	0.82[EUR][1000 genomes]
rs73111210	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73111212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73111216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73111217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73111220	0.94[AMR][1000 genomes]
rs73111226	0.94[AMR][1000 genomes]
rs73111229	0.94[AMR][1000 genomes]
rs73111231	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73111258	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73113117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73113139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73113143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73113159	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73113161	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7954764	0.88[AMR][1000 genomes];0.86[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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1051131	chr12:47883981-48016556	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv899056	chr12:47940764-48012390	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking 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	30 gene(s)	inside rSNPs	diseases
7	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558788	chr12:47945797-48012390	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv899057	chr12:47947551-48012390	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47992600-48006600	Weak transcription	HSMMtube	muscle
2	chr12:47996000-48006800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:47997000-48005000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:47998800-48030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:47999600-48006400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:48001800-48006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:48002000-48005800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:48002000-48006800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:48002600-48005800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:48002600-48006400	Weak transcription	Primary B cells from cord blood	blood
11	chr12:48003600-48006000	Enhancers	Fetal Muscle Leg	muscle
12	chr12:48004000-48006000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:48004400-48004800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr12:48004400-48005600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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