Variant report

Variant	rs28362787
Chromosome Location	chr14:31359859-31359860
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	POLR2A	chr14:31356529-31362343	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:31359825-31359867	K562	blood:	n/a	n/a
3	FOSL2	chr14:31359726-31360280	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:31359757-31360211	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:31359846-31359864	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:31356649-31359956	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:31354216-31363382	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31359586..31361884-chr14:31363738..31366139,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258525	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11156656	0.85[AMR][1000 genomes]
rs11629300	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12100679	0.85[AMR][1000 genomes]
rs2295130	0.85[AMR][1000 genomes]
rs61976768	0.85[AMR][1000 genomes]
rs61976769	0.85[AMR][1000 genomes]
rs61976774	0.85[AMR][1000 genomes]
rs61976777	0.85[AMR][1000 genomes]
rs61976795	0.85[AMR][1000 genomes]
rs61976801	0.85[AMR][1000 genomes]
rs61976804	0.85[AMR][1000 genomes]
rs61976805	0.85[AMR][1000 genomes]
rs61976816	0.85[AMR][1000 genomes]
rs61976819	0.85[AMR][1000 genomes]
rs7142163	0.85[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31345200-31369200	Weak transcription	Pancreas	Pancrea
3	chr14:31345400-31363800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:31345400-31382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:31346200-31362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:31346400-31362600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:31346600-31364200	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:31346600-31382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:31347000-31384600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31347200-31362800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:31347600-31363800	Weak transcription	Brain Anterior Caudate	brain
13	chr14:31348000-31372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:31348200-31376800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:31348600-31360400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:31349200-31362600	Weak transcription	Brain Substantia Nigra	brain
17	chr14:31350200-31363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:31350200-31377800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:31350400-31363800	Weak transcription	Adipose Nuclei	Adipose
20	chr14:31350800-31363200	Weak transcription	NH-A	brain
21	chr14:31351400-31362600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:31352000-31362000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:31352000-31363800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:31352200-31360200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:31352200-31362600	Weak transcription	Osteobl	bone
26	chr14:31352400-31363200	Weak transcription	HMEC	breast
27	chr14:31352600-31364200	Weak transcription	Left Ventricle	heart
28	chr14:31353200-31362000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:31353400-31363800	Weak transcription	Fetal Intestine Large	intestine
30	chr14:31353400-31364200	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:31353400-31367400	Weak transcription	NHLF	lung
32	chr14:31353400-31369200	Weak transcription	Fetal Intestine Small	intestine
33	chr14:31355200-31363800	Weak transcription	Fetal Lung	lung
34	chr14:31355200-31364400	Weak transcription	HSMMtube	muscle
35	chr14:31355200-31378400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:31355400-31363400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:31355400-31364400	Weak transcription	Lung	lung
38	chr14:31355800-31363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:31355800-31364400	Weak transcription	Fetal Brain Female	brain
40	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
41	chr14:31356000-31363200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:31356000-31364200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:31356000-31364400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:31356000-31369200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:31356200-31367200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:31356200-31378800	Weak transcription	Brain Germinal Matrix	brain
47	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:31356400-31364400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:31357400-31363600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:31357600-31360800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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