Variant report

Variant	rs4983617
Chromosome Location	chr14:105899344-105899345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105898635..105900529-chr14:105956136..105958915,2	K562	blood:
2	chr14:105897807..105900508-chr14:105907572..105910454,2	K562	blood:
3	chr14:105895888..105900814-chr14:105938941..105942915,4	MCF-7	breast:
4	chr14:105897781..105901203-chr14:105944621..105946755,4	MCF-7	breast:
5	chr14:105897786..105899880-chr14:105904484..105906370,2	K562	blood:
6	chr14:105890219..105897355-chr14:105898483..105904459,8	MCF-7	breast:
7	chr14:105896308..105902198-chr14:105902460..105906815,7	MCF-7	breast:
8	chr14:105898635..105900522-chr14:105954855..105957636,2	K562	blood:
9	chr14:105898477..105900475-chr14:105957561..105959128,2	MCF-7	breast:
10	chr14:105887107..105890164-chr14:105897774..105900596,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182809	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000182979	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10131764	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144583	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10873557	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983339	0.85[YRI][hapmap]
rs4983618	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4983619	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60264385	0.85[AMR][1000 genomes]
rs6576091	0.93[AFR][1000 genomes]
rs73361079	0.85[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	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105887600-105919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:105888200-105900400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:105888400-105904600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:105888600-105914800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:105888600-105918400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:105888800-105908600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:105889200-105903600	Weak transcription	Stomach Mucosa	stomach
8	chr14:105889200-105904400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:105889200-105905400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:105889200-105905400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:105889400-105901600	Weak transcription	Fetal Brain Male	brain
14	chr14:105889400-105905200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:105889400-105908600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:105889400-105914400	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:105889400-105914800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:105889400-105916400	Weak transcription	Brain Anterior Caudate	brain
19	chr14:105889600-105900000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:105889600-105905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:105890400-105916200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:105891600-105904800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:105891800-105899800	ZNF genes & repeats	Fetal Stomach	stomach
24	chr14:105893400-105908600	Weak transcription	Colonic Mucosa	Colon
25	chr14:105893600-105908400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:105893600-105908600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:105893800-105899600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:105893800-105899600	Weak transcription	Gastric	stomach
29	chr14:105893800-105902800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr14:105893800-105902800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:105893800-105903200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:105893800-105903200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:105894000-105903400	Weak transcription	Placenta	Placenta
34	chr14:105894000-105905200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:105895600-105903400	Weak transcription	Spleen	Spleen
36	chr14:105897000-105902800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr14:105897000-105903200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:105897000-105903200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:105897200-105900400	Enhancers	Liver	Liver
40	chr14:105897200-105905200	Weak transcription	Fetal Intestine Large	intestine
41	chr14:105897400-105899800	Weak transcription	Primary T cells from cord blood	blood
42	chr14:105897400-105901800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr14:105897400-105903200	Weak transcription	Esophagus	oesophagus
44	chr14:105897400-105903200	Weak transcription	Right Ventricle	heart
45	chr14:105897400-105903600	Weak transcription	Ovary	ovary
46	chr14:105897400-105905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:105897400-105905400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:105897400-105908800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:105897400-105914800	Weak transcription	Right Atrium	heart
50	chr14:105897400-105917000	Weak transcription	Primary B cells from cord blood	blood

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