Variant report

Variant	rs12437806
Chromosome Location	chr15:99788247-99788248
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	FOXA2	chr15:99788229-99788553	HepG2	liver:	n/a	n/a
2	FOXA1	chr15:99788239-99788544	HepG2	liver:	n/a	n/a
3	FOXA1	chr15:99788246-99788666	HepG2	liver:	n/a	n/a
4	FOXA1	chr15:99788223-99788674	HepG2	liver:	n/a	n/a
5	FOXA1	chr15:99788242-99788626	HepG2	liver:	n/a	n/a
6	HCFC1	chr15:99788182-99792843	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99776229..99778768-chr15:99786778..99789073,2	K562	blood:

Variant related genes	Relation type
LRRC28	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10152912	0.92[ASN][1000 genomes]
rs1223950	0.97[ASN][1000 genomes]
rs1223951	0.98[ASN][1000 genomes]
rs12907394	0.97[ASN][1000 genomes]
rs12911768	0.95[ASN][1000 genomes]
rs12915819	0.87[ASN][1000 genomes]
rs1567416	0.95[ASN][1000 genomes]
rs1976589	0.94[ASN][1000 genomes]
rs1976590	0.94[ASN][1000 genomes]
rs2048301	0.93[ASN][1000 genomes]
rs2602030	0.92[ASN][1000 genomes]
rs2862139	0.95[ASN][1000 genomes]
rs3937681	0.87[ASN][1000 genomes]
rs4344722	0.95[ASN][1000 genomes]
rs4965224	0.99[ASN][1000 genomes]
rs6598231	0.93[ASN][1000 genomes]
rs7164003	0.95[ASN][1000 genomes]
rs8042021	0.95[ASN][1000 genomes]
rs9920418	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	nsv1052528	chr15:99736977-99874210	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1045367	chr15:99781626-99892182	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99673200-99789400	Weak transcription	Small Intestine	intestine
2	chr15:99749800-99789400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:99750000-99789400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:99756600-99789400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr15:99758600-99789400	Weak transcription	Brain Substantia Nigra	brain
6	chr15:99759200-99788400	Weak transcription	Fetal Thymus	thymus
7	chr15:99759400-99788600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:99759400-99788600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:99761400-99788400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:99762600-99789400	Weak transcription	Gastric	stomach
11	chr15:99765600-99789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:99765800-99789400	Weak transcription	Lung	lung
13	chr15:99768200-99788600	Weak transcription	Colonic Mucosa	Colon
14	chr15:99768200-99789200	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:99768600-99788400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:99768600-99788400	Weak transcription	Ovary	ovary
17	chr15:99768800-99789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:99769000-99788400	Weak transcription	HSMMtube	muscle
19	chr15:99769000-99788400	Weak transcription	NH-A	brain
20	chr15:99773400-99788400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:99773600-99788400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:99773600-99788400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:99776600-99788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:99777000-99788400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:99778800-99788400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:99780800-99788400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:99781000-99788400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:99781200-99788400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:99782000-99788400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:99782000-99788400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:99782000-99788400	Weak transcription	Fetal Intestine Large	intestine
32	chr15:99782000-99789200	Weak transcription	Placenta	Placenta
33	chr15:99782200-99788400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:99782200-99788400	Weak transcription	Right Ventricle	heart
35	chr15:99782200-99788600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:99782200-99788600	Weak transcription	Left Ventricle	heart
37	chr15:99782200-99789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:99782200-99789400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:99782200-99789400	Weak transcription	Esophagus	oesophagus
40	chr15:99782200-99789400	Weak transcription	Pancreas	Pancrea
41	chr15:99782200-99791000	Weak transcription	Spleen	Spleen
42	chr15:99782400-99788600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:99785400-99788400	Weak transcription	HSMM	muscle
44	chr15:99786000-99788400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:99787200-99788400	Weak transcription	Psoas Muscle	Psoas
46	chr15:99787200-99788600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr15:99787200-99788600	Enhancers	Fetal Lung	lung
48	chr15:99787200-99788600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:99787400-99788400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:99787400-99792400	Active TSS	GM12878-XiMat	blood

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