Variant report

Variant	rs11845995
Chromosome Location	chr14:105930923-105930924
allele	A/C/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	chr14:105930585-105931026	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:105930662-105932416	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105930163..105933758-chr14:105934789..105938563,5	K562	blood:
2	chr14:105902828..105905242-chr14:105930834..105932344,2	K562	blood:

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000257270	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10143851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs10147154	1.00[CHD][hapmap]
rs1128308	0.81[EUR][1000 genomes]
rs11621365	1.00[CHD][hapmap]
rs11849001	1.00[CHB][hapmap]
rs4074001	1.00[CHD][hapmap]
rs4983407	1.00[CHD][hapmap]
rs4983414	1.00[CHD][hapmap]
rs4983416	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983418	1.00[CHD][hapmap]
rs4983614	1.00[CHD][hapmap]
rs58219314	0.81[EUR][1000 genomes]
rs60370249	0.90[EUR][1000 genomes]
rs60837482	0.86[EUR][1000 genomes]
rs6576099	1.00[CHD][hapmap]
rs7141736	0.81[EUR][1000 genomes]
rs7145303	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153174	1.00[CHD][hapmap]
rs7160340	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7161158	1.00[CHD][hapmap]
rs74092397	0.81[EUR][1000 genomes]
rs8005552	1.00[CHD][hapmap]
rs9743822	1.00[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897800-105940000	Weak transcription	K562	blood
4	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
6	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:105906800-105931000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
11	chr14:105912000-105937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:105915400-105931000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:105915400-105935000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:105915400-105936800	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr14:105915600-105937000	Strong transcription	Fetal Stomach	stomach
16	chr14:105916000-105931000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:105919000-105935200	Weak transcription	Stomach Mucosa	stomach
18	chr14:105923400-105933800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:105923600-105933600	Weak transcription	GM12878-XiMat	blood
20	chr14:105926200-105931400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:105926200-105935800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:105926200-105937000	Strong transcription	Brain Germinal Matrix	brain
23	chr14:105926200-105937400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:105926400-105931000	Strong transcription	A549	lung
25	chr14:105926400-105931400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:105926400-105931400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:105926400-105931600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:105926400-105932400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:105926400-105933600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:105926400-105933600	Strong transcription	Gastric	stomach
31	chr14:105926400-105934200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:105926400-105934800	Strong transcription	Pancreas	Pancrea
33	chr14:105926400-105936600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr14:105926400-105936600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:105926400-105937000	Strong transcription	Fetal Intestine Small	intestine
36	chr14:105926400-105937800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:105926400-105937800	Strong transcription	Fetal Brain Female	brain
38	chr14:105926400-105937800	Strong transcription	Thymus	Thymus
39	chr14:105926600-105931000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:105926600-105931200	Strong transcription	Placenta	Placenta
41	chr14:105926600-105931200	Strong transcription	Left Ventricle	heart
42	chr14:105926600-105931400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:105926600-105931400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:105926600-105931400	Strong transcription	Esophagus	oesophagus
45	chr14:105926600-105931400	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr14:105926600-105931400	Strong transcription	NHLF	lung
47	chr14:105926600-105931600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:105926600-105931600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:105926600-105931600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:105926600-105931800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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