Variant report

Variant	rs370768
Chromosome Location	chr16:12065187-12065188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:12063302-12065231	GM18505	blood:	n/a	n/a
2	POLR2A	chr16:12063327-12065218	GM12891	blood:	n/a	n/a
3	POLR2A	chr16:12064692-12065193	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:12063141..12068645-chr16:12069062..12072358,5	K562	blood:
2	chr16:12062630..12065317-chr16:12068977..12070562,2	K562	blood:
3	chr16:12054203..12056050-chr16:12064634..12067549,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269121	TF binding region
UBL5P4	TF binding region
ENSG00000260488	Chromatin interaction
ENSG00000048471	Chromatin interaction
ENSG00000234719	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs14817	1.00[AMR][1000 genomes]
rs153026	1.00[AMR][1000 genomes]
rs153027	1.00[AMR][1000 genomes]
rs1794329	1.00[AMR][1000 genomes]
rs251725	1.00[AMR][1000 genomes]
rs33628	1.00[AMR][1000 genomes]
rs33632	1.00[AMR][1000 genomes]
rs33634	1.00[AMR][1000 genomes]
rs33656	1.00[AMR][1000 genomes]
rs33658	1.00[AMR][1000 genomes]
rs379936	1.00[AMR][1000 genomes]
rs386606	1.00[AMR][1000 genomes]
rs419029	1.00[AMR][1000 genomes]
rs419040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432140	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs434806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs469657	1.00[AMR][1000 genomes]
rs636664	1.00[AMR][1000 genomes]
rs677507	1.00[AMR][1000 genomes]
rs73513691	1.00[AMR][1000 genomes]
rs73515603	1.00[AMR][1000 genomes]
rs73515605	1.00[AMR][1000 genomes]
rs73515607	1.00[AMR][1000 genomes]
rs73515608	1.00[AMR][1000 genomes]
rs73515629	1.00[AMR][1000 genomes]
rs73515632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv962195	chr16:12053526-12071576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12040400-12065400	Weak transcription	Fetal Intestine Small	intestine
2	chr16:12052200-12067600	Weak transcription	Osteobl	bone
3	chr16:12052200-12069600	Weak transcription	Primary T cells from cord blood	blood
4	chr16:12052400-12066800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:12053000-12065800	Weak transcription	Placenta	Placenta
6	chr16:12054600-12069400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:12056800-12069400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:12058800-12067600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:12058800-12069400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr16:12059000-12069400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:12059000-12069400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:12059000-12069400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:12059200-12065800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:12059200-12069400	Weak transcription	Adipose Nuclei	Adipose
17	chr16:12059400-12067200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:12059400-12069400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:12059400-12069400	Weak transcription	NHEK	skin
20	chr16:12059400-12069600	Weak transcription	Brain Anterior Caudate	brain
21	chr16:12059400-12069600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:12059400-12069600	Weak transcription	Brain Substantia Nigra	brain
23	chr16:12059400-12069600	Weak transcription	HSMMtube	muscle
24	chr16:12059600-12069400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:12059600-12069600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:12059800-12069600	Weak transcription	Fetal Thymus	thymus
27	chr16:12060000-12067600	Weak transcription	Left Ventricle	heart
28	chr16:12060600-12065600	Enhancers	Primary B cells from cord blood	blood
29	chr16:12061400-12065200	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr16:12061600-12069400	Weak transcription	Pancreas	Pancrea
31	chr16:12061800-12069200	Weak transcription	K562	blood
32	chr16:12061800-12069600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:12062000-12067000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr16:12063200-12065600	Weak transcription	Fetal Intestine Large	intestine
35	chr16:12063200-12067200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr16:12063600-12069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:12064000-12065400	Genic enhancers	GM12878-XiMat	blood
38	chr16:12064200-12069600	Weak transcription	Colonic Mucosa	Colon
39	chr16:12064400-12068800	Strong transcription	Fetal Stomach	stomach
40	chr16:12064600-12067000	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:12064800-12068400	Strong transcription	Thymus	Thymus
42	chr16:12065000-12069600	Weak transcription	Spleen	Spleen

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