Variant report

Variant	rs28420819
Chromosome Location	chr14:55494769-55494770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:55492547-55495304	SK-N-SH	brain:	n/a	n/a
2	SIN3A	chr14:55492237-55494788	H1-hESC	embryonic stem cell:	n/a	n/a
3	IRF1	chr14:55494497-55494817	K562	blood:	n/a	n/a
4	REST	chr14:55493326-55495147	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr14:55493324-55494939	MCF10A-Er-Src	breast:	n/a	n/a
6	CHD1	chr14:55493218-55494846	GM12878	blood:	n/a	n/a
7	RFX5	chr14:55493224-55494777	Hela-S3	cervix:	n/a	n/a
8	CHD1	chr14:55492126-55494811	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368060..55369582-chr14:55493883..55496744,2	MCF-7	breast:
2	chr14:55490790..55495805-chr14:55515486..55522658,19	MCF-7	breast:
3	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
4	chr14:55491921..55500295-chr14:55515389..55520812,24	K562	blood:
5	chr14:55491992..55498342-chr14:55515529..55520367,21	K562	blood:

No data

Variant related genes	Relation type
WDHD1	TF binding region
ENSG00000168175	Chromatin interaction
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11850914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55491200-55495800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr14:55491400-55495200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:55491400-55495200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:55492000-55496200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:55492000-55496400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:55492200-55495200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:55492200-55495200	Active TSS	Brain Germinal Matrix	brain
8	chr14:55492200-55496000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:55492400-55494800	Active TSS	Fetal Thymus	thymus
10	chr14:55492400-55495200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:55492400-55495200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:55492400-55495600	Active TSS	Fetal Kidney	kidney
13	chr14:55492400-55496800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr14:55492600-55495000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:55492600-55495200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:55492600-55495200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:55492600-55495200	Active TSS	Fetal Muscle Trunk	muscle
18	chr14:55492600-55495400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:55492600-55495400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:55492600-55495800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:55492800-55494800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:55492800-55494800	Active TSS	Thymus	Thymus
23	chr14:55492800-55495000	Active TSS	Placenta Amnion	Placenta Amnion
24	chr14:55492800-55495400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:55492800-55495400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:55492800-55496400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:55492800-55496600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr14:55492800-55498400	Active TSS	GM12878-XiMat	blood
29	chr14:55493000-55494800	Active TSS	Psoas Muscle	Psoas
30	chr14:55493000-55495000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr14:55493000-55495200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:55493000-55495200	Active TSS	Primary T cells fromperipheralblood	blood
33	chr14:55493000-55495200	Active TSS	Fetal Muscle Leg	muscle
34	chr14:55493000-55495200	Active TSS	HepG2	liver
35	chr14:55493000-55495200	Active TSS	NHDF-Ad	bronchial
36	chr14:55493000-55495400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:55493000-55495400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr14:55493000-55495400	Active TSS	Right Ventricle	heart
39	chr14:55493000-55495600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr14:55493000-55496000	Active TSS	K562	blood
41	chr14:55493200-55494800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:55493200-55494800	Active TSS	Brain Hippocampus Middle	brain
43	chr14:55493200-55494800	Active TSS	Colon Smooth Muscle	Colon
44	chr14:55493200-55494800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr14:55493200-55494800	Active TSS	Fetal Brain Male	brain
46	chr14:55493200-55494800	Active TSS	Fetal Brain Female	brain
47	chr14:55493200-55494800	Active TSS	Fetal Heart	heart
48	chr14:55493200-55494800	Active TSS	Fetal Intestine Large	intestine
49	chr14:55493200-55494800	Active TSS	Fetal Lung	lung
50	chr14:55493200-55494800	Active TSS	Placenta	Placenta

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