Variant report

Variant	rs4905554
Chromosome Location	chr14:97320701-97320702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97319882..97321804-chr14:97324094..97326598,3	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11623586	1.00[ASN][1000 genomes]
rs41443751	1.00[ASN][1000 genomes]
rs4900341	1.00[ASN][1000 genomes]
rs4900342	1.00[ASN][1000 genomes]
rs4905534	1.00[CHB][hapmap]
rs4905540	1.00[ASN][1000 genomes]
rs55676539	1.00[ASN][1000 genomes]
rs55841808	1.00[ASN][1000 genomes]
rs55892024	1.00[ASN][1000 genomes]
rs55909735	1.00[ASN][1000 genomes]
rs55946529	1.00[ASN][1000 genomes]
rs55967054	1.00[ASN][1000 genomes]
rs56056633	1.00[ASN][1000 genomes]
rs56096836	1.00[ASN][1000 genomes]
rs56097548	1.00[ASN][1000 genomes]
rs56128300	1.00[ASN][1000 genomes]
rs66466321	1.00[ASN][1000 genomes]
rs7145138	1.00[ASN][1000 genomes]
rs7158776	1.00[ASN][1000 genomes]
rs72708750	1.00[ASN][1000 genomes]
rs72708755	1.00[ASN][1000 genomes]
rs72708758	1.00[ASN][1000 genomes]
rs72708763	1.00[ASN][1000 genomes]
rs72708765	1.00[ASN][1000 genomes]
rs72708767	1.00[ASN][1000 genomes]
rs72708773	1.00[ASN][1000 genomes]
rs72708797	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4905554	VRK1	cis	brain	BrainEAC

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
2	chr14:97291000-97326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:97291200-97326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:97293400-97326400	Weak transcription	Fetal Stomach	stomach
5	chr14:97293600-97323400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:97294000-97323000	Weak transcription	Gastric	stomach
7	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
8	chr14:97297400-97323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:97297400-97328000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:97298800-97348800	Strong transcription	Dnd41	blood
12	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:97299000-97328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:97299200-97329600	Weak transcription	Osteobl	bone
15	chr14:97299400-97329600	Weak transcription	NHEK	skin
16	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:97300200-97323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:97300400-97321400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:97300600-97322600	Weak transcription	Fetal Kidney	kidney
20	chr14:97300600-97329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:97300600-97332000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:97303400-97326600	Weak transcription	NHLF	lung
23	chr14:97303400-97371600	Weak transcription	Ovary	ovary
24	chr14:97303600-97337400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:97305400-97321400	Weak transcription	HSMM	muscle
26	chr14:97305800-97321600	Weak transcription	Hela-S3	cervix
27	chr14:97306000-97330200	Weak transcription	Fetal Brain Female	brain
28	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:97309600-97344400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:97309800-97326600	Weak transcription	Placenta	Placenta
31	chr14:97310800-97325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:97311600-97325800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:97312800-97333200	Weak transcription	HSMMtube	muscle
34	chr14:97313000-97323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:97313600-97328000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:97314000-97329200	Weak transcription	Brain Germinal Matrix	brain
37	chr14:97314200-97328600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:97314400-97323600	Weak transcription	HepG2	liver
39	chr14:97314400-97327800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:97314400-97329400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:97314400-97329800	Weak transcription	NH-A	brain
42	chr14:97314600-97322800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:97314600-97323800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:97314600-97324800	Weak transcription	Fetal Lung	lung
45	chr14:97314800-97321000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr14:97314800-97323000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:97314800-97323200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:97314800-97323200	Weak transcription	Fetal Intestine Large	intestine
49	chr14:97314800-97323400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:97314800-97327600	Weak transcription	Aorta	Aorta

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