Variant report

Variant	rs4982406
Chromosome Location	chr14:21554243-21554244
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21554168-21554613	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:21554088-21554316	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:21553870-21554909	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:21554212-21554510	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:21551966-21554246	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:21554203-21554298	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	chr14:21550786..21552632-chr14:21553088..21555005,3	MCF-7	breast:
2	chr14:21537028..21541987-chr14:21553672..21557659,5	MCF-7	breast:
3	chr14:21547728..21550194-chr14:21553022..21555412,3	K562	blood:
4	chr14:21536527..21539599-chr14:21551336..21554432,4	MCF-7	breast:
5	chr14:21541567..21544364-chr14:21553571..21555627,2	K562	blood:

No data

Variant related genes	Relation type
ARHGEF40	TF binding region
ENSG00000258714	TF binding region
ENSG00000165801	Chromatin interaction
ENSG00000165795	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1057718	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs11629332	0.90[ASN][1000 genomes]
rs12432043	0.81[ASN][1000 genomes]
rs12880628	0.81[ASN][1000 genomes]
rs1952151	0.83[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1958395	0.82[ASN][1000 genomes]
rs3827911	0.82[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs3827913	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7140850	0.89[ASN][1000 genomes]
rs7143633	0.82[JPT][hapmap]
rs7149011	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs943991	0.83[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv528337	chr14:21540863-21565189	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21540800-21554800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21541000-21554400	Strong transcription	Lung	lung
3	chr14:21541000-21555000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:21541000-21555200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:21541000-21555200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:21541000-21555600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:21541000-21561000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:21541200-21554600	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr14:21541200-21555000	Strong transcription	Aorta	Aorta
10	chr14:21541200-21555200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:21541200-21557000	Weak transcription	Hela-S3	cervix
12	chr14:21541200-21561400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:21541400-21554400	Strong transcription	NHLF	lung
14	chr14:21541400-21554800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:21541400-21554800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:21541400-21555000	Strong transcription	Brain Germinal Matrix	brain
17	chr14:21541400-21555200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr14:21541400-21555200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr14:21541400-21555200	Strong transcription	Colonic Mucosa	Colon
20	chr14:21541400-21555600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:21541400-21558000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:21541400-21560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:21541400-21560200	Strong transcription	Placenta	Placenta
24	chr14:21541600-21555000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr14:21541600-21555200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:21541600-21555200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr14:21541600-21555400	Strong transcription	Brain Hippocampus Middle	brain
28	chr14:21541600-21555800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr14:21541600-21557000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr14:21541600-21558800	Strong transcription	Fetal Lung	lung
31	chr14:21541600-21560400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:21541800-21555600	Strong transcription	Ovary	ovary
33	chr14:21542000-21555200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:21542000-21559800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr14:21542400-21554800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:21542400-21555200	Strong transcription	Fetal Stomach	stomach
37	chr14:21542400-21560200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:21542400-21560400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:21542600-21554800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:21543200-21554600	Strong transcription	Fetal Brain Female	brain
41	chr14:21543200-21555200	Strong transcription	Fetal Muscle Leg	muscle
42	chr14:21543400-21555000	Strong transcription	Brain Substantia Nigra	brain
43	chr14:21543400-21555200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr14:21543800-21561400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:21544200-21562200	Weak transcription	K562	blood
46	chr14:21544800-21555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:21545200-21565600	Weak transcription	Psoas Muscle	Psoas
48	chr14:21546200-21555200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:21546200-21560400	Strong transcription	Pancreas	Pancrea
50	chr14:21548200-21562000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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