Variant report

Variant	rs10483541
Chromosome Location	chr14:39638929-39638930
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39624043..39626785-chr14:39637503..39639794,2	K562	blood:
2	chr14:39637610..39639234-chr14:39680366..39682544,2	MCF-7	breast:
3	chr14:39636723..39639312-chr14:39766672..39768267,2	MCF-7	breast:
4	chr14:39576976..39580513-chr14:39638047..39641153,4	K562	blood:
5	chr14:39638891..39641141-chr14:39697742..39700523,2	MCF-7	breast:
6	chr14:39631838..39633415-chr14:39636342..39639514,3	MCF-7	breast:
7	chr14:39635717..39639064-chr14:39734944..39738287,4	MCF-7	breast:
8	chr14:39602771..39604896-chr14:39637781..39640211,2	MCF-7	breast:
9	chr14:39638262..39639790-chr14:39854572..39857043,2	K562	blood:
10	chr14:39582622..39586619-chr14:39638047..39642701,6	MCF-7	breast:
11	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:
12	chr14:39572251..39574864-chr14:39637876..39641106,3	MCF-7	breast:
13	chr14:39570654..39572608-chr14:39637696..39639686,2	K562	blood:
14	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
15	chr14:39560368..39562617-chr14:39637895..39640290,2	MCF-7	breast:
16	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258671	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000165355	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000259100	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000241984	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41317316	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1813567	chr14:39632114-39642840	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39636200-39640200	Active TSS	GM12878-XiMat	blood
2	chr14:39636800-39640600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:39637400-39639200	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr14:39637400-39640200	Active TSS	Ovary	ovary
5	chr14:39637400-39640200	Active TSS	K562	blood
6	chr14:39637400-39640600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:39637600-39639000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:39637600-39639000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr14:39637600-39639200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:39637600-39639400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:39637600-39639400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr14:39637600-39640000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:39637600-39640200	Active TSS	HSMMtube	muscle
14	chr14:39637600-39640400	Active TSS	Aorta	Aorta
15	chr14:39637600-39640400	Active TSS	NHDF-Ad	bronchial
16	chr14:39637600-39640400	Active TSS	NHLF	lung
17	chr14:39637800-39639000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:39637800-39639000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr14:39637800-39639000	Flanking Active TSS	Liver	Liver
20	chr14:39637800-39639000	Flanking Active TSS	Dnd41	blood
21	chr14:39637800-39639000	Flanking Active TSS	HUVEC	blood vessel
22	chr14:39637800-39640200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:39637800-39640200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:39637800-39640200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:39637800-39640200	Active TSS	Fetal Brain Female	brain
26	chr14:39637800-39640400	Active TSS	Psoas Muscle	Psoas
27	chr14:39637800-39640400	Active TSS	Right Atrium	heart
28	chr14:39637800-39640600	Active TSS	Brain Anterior Caudate	brain
29	chr14:39638000-39639000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:39638000-39639000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr14:39638000-39639000	Active TSS	Brain Germinal Matrix	brain
32	chr14:39638000-39639200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr14:39638000-39639400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr14:39638000-39640000	Active TSS	Colonic Mucosa	Colon
35	chr14:39638000-39640200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr14:39638000-39640200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:39638000-39640200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:39638000-39640200	Active TSS	Right Ventricle	heart
39	chr14:39638000-39640400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:39638200-39639000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:39638200-39639000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr14:39638200-39639000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr14:39638200-39640200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr14:39638200-39640200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:39638200-39640200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:39638200-39640200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr14:39638200-39640200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:39638200-39640200	Active TSS	Colon Smooth Muscle	Colon
49	chr14:39638200-39640200	Active TSS	Fetal Muscle Leg	muscle
50	chr14:39638200-39640200	Active TSS	HMEC	breast

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