Variant report

Variant	rs4983619
Chromosome Location	chr14:105900102-105900103
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr14:105899490-105900221	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:105898953-105900196	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:105899334-105900112	GM12891	blood:	n/a	n/a
4	POLR2A	chr14:105898884-105900125	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:105899035-105900162	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:105898992-105900117	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:105899692-105900131	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:105896500-105900690	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr14:105900086-105900183	MCF10A-Er-Src	breast:	n/a	n/a

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	chr14:105899695..105901267-chr14:105913681..105915977,2	MCF-7	breast:
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
MTA1	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000185347	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]
rs4983617	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]
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]
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	chr14:105889600-105905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:105890400-105916200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:105891600-105904800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:105893400-105908600	Weak transcription	Colonic Mucosa	Colon
23	chr14:105893600-105908400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:105893600-105908600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:105893800-105902800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr14:105893800-105902800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:105893800-105903200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:105893800-105903200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:105894000-105903400	Weak transcription	Placenta	Placenta
30	chr14:105894000-105905200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:105895600-105903400	Weak transcription	Spleen	Spleen
32	chr14:105897000-105902800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:105897000-105903200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:105897000-105903200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:105897200-105900400	Enhancers	Liver	Liver
36	chr14:105897200-105905200	Weak transcription	Fetal Intestine Large	intestine
37	chr14:105897400-105901800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:105897400-105903200	Weak transcription	Esophagus	oesophagus
39	chr14:105897400-105903200	Weak transcription	Right Ventricle	heart
40	chr14:105897400-105903600	Weak transcription	Ovary	ovary
41	chr14:105897400-105905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:105897400-105905400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr14:105897400-105908800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:105897400-105914800	Weak transcription	Right Atrium	heart
45	chr14:105897400-105917000	Weak transcription	Primary B cells from cord blood	blood
46	chr14:105897600-105902800	Weak transcription	Lung	lung
47	chr14:105897600-105903800	Weak transcription	Left Ventricle	heart
48	chr14:105897600-105904200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:105897600-105905400	Weak transcription	Adipose Nuclei	Adipose
50	chr14:105897600-105908800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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