Variant report

Variant	rs12445484
Chromosome Location	chr16:81346930-81346931
allele	C/T
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	CEBPB	chr16:81346810-81347068	K562	blood:	n/a	chr16:81346889-81346900
2	CEBPB	chr16:81346884-81346991	H1-hESC	embryonic stem cell:	n/a	chr16:81346889-81346900
3	CEBPB	chr16:81346866-81347001	IMR90	lung:	n/a	chr16:81346889-81346900
4	CEBPB	chr16:81346871-81347036	HepG2	liver:	n/a	chr16:81346889-81346900

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81038653..81041025-chr16:81346635..81349129,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCSH-1	chr16:81345111-81348378	NONHSAT143942
2	lnc-GCSH-1	chr16:81344336-81347028	ENSG00000260495.1

Variant related genes	Relation type
GAN	TF binding region
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11150382	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11150383	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11643932	0.85[AFR][1000 genomes]
rs11860448	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12447470	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12918775	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12920172	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35378839	0.85[AFR][1000 genomes]
rs7196957	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7202734	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9934557	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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 target site	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	nsv522890	chr16:81341363-81348396	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81328000-81347000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:81328200-81347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:81328600-81347000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:81330600-81347200	Weak transcription	Gastric	stomach
5	chr16:81331600-81347000	Weak transcription	Right Ventricle	heart
6	chr16:81334600-81347200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:81337600-81347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81338400-81347000	Weak transcription	Spleen	Spleen
9	chr16:81338400-81347200	Weak transcription	Primary B cells from cord blood	blood
10	chr16:81338400-81347400	Weak transcription	Aorta	Aorta
11	chr16:81338600-81347400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:81340800-81347000	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:81342000-81347000	Weak transcription	Fetal Lung	lung
14	chr16:81343200-81347000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:81343200-81347000	Weak transcription	NHDF-Ad	bronchial
16	chr16:81343200-81347200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:81343200-81347400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr16:81343600-81347200	Weak transcription	Pancreas	Pancrea
19	chr16:81344000-81347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:81344000-81347200	Weak transcription	Placenta	Placenta
21	chr16:81344200-81347000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:81344200-81347000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:81344200-81347000	Weak transcription	K562	blood
24	chr16:81344400-81347000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:81344400-81347000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:81344400-81347200	Weak transcription	A549	lung
27	chr16:81344600-81347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:81344600-81347000	Weak transcription	Liver	Liver
29	chr16:81344600-81347000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:81344600-81347000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:81344600-81347000	Weak transcription	NHEK	skin
32	chr16:81344600-81347200	Weak transcription	Fetal Thymus	thymus
33	chr16:81344800-81347000	Weak transcription	HSMM	muscle
34	chr16:81344800-81347200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr16:81345000-81347400	Weak transcription	Lung	lung
36	chr16:81345200-81347200	Enhancers	Brain Substantia Nigra	brain
37	chr16:81345400-81347000	Enhancers	Brain Cingulate Gyrus	brain
38	chr16:81345400-81347000	Weak transcription	Fetal Heart	heart
39	chr16:81345400-81347200	Weak transcription	Esophagus	oesophagus
40	chr16:81345400-81347400	Weak transcription	Left Ventricle	heart
41	chr16:81345600-81347000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr16:81345600-81347000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr16:81345600-81347000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:81345600-81347000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:81345600-81347000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:81345600-81347000	Weak transcription	Fetal Brain Female	brain
47	chr16:81345600-81347000	Weak transcription	Fetal Intestine Small	intestine
48	chr16:81345600-81347000	Weak transcription	Ovary	ovary
49	chr16:81345600-81347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:81345600-81347200	Weak transcription	Primary hematopoietic stem cells	blood

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