Variant report

Variant	rs4983620
Chromosome Location	chr14:105905126-105905127
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105902756..105906780-chr14:105956006..105959134,5	MCF-7	breast:
2	chr14:105902283..105908432-chr14:105944817..105951373,9	MCF-7	breast:
3	chr14:105902344..105906632-chr14:105939228..105943259,7	MCF-7	breast:
4	chr14:105902143..105905160-chr14:105940011..105943136,5	MCF-7	breast:
5	chr14:105902565..105906697-chr14:105932169..105936497,4	MCF-7	breast:
6	chr14:105884242..105887668-chr14:105902479..105906192,4	MCF-7	breast:
7	chr14:105902828..105905242-chr14:105930834..105932344,2	K562	blood:
8	chr14:105885358..105889451-chr14:105901895..105905959,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182979	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000185347	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28730331	0.83[AMR][1000 genomes]
rs4983407	1.00[ASN][1000 genomes]
rs4983628	1.00[ASN][1000 genomes]
rs7143586	1.00[ASN][1000 genomes]
rs7144639	1.00[ASN][1000 genomes]
rs7153174	1.00[ASN][1000 genomes]
rs8018272	1.00[ASN][1000 genomes]
rs9743822	1.00[ASN][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	chr14:105888600-105914800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:105888600-105918400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:105888800-105908600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:105889200-105905400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:105889200-105905400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:105889400-105905200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:105889400-105908600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:105889400-105914400	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:105889400-105914800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:105889400-105916400	Weak transcription	Brain Anterior Caudate	brain
14	chr14:105889600-105905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:105890400-105916200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:105893400-105908600	Weak transcription	Colonic Mucosa	Colon
17	chr14:105893600-105908400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:105893600-105908600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:105894000-105905200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:105897200-105905200	Weak transcription	Fetal Intestine Large	intestine
21	chr14:105897400-105905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:105897400-105905400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:105897400-105908800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:105897400-105914800	Weak transcription	Right Atrium	heart
25	chr14:105897400-105917000	Weak transcription	Primary B cells from cord blood	blood
26	chr14:105897600-105905400	Weak transcription	Adipose Nuclei	Adipose
27	chr14:105897600-105908800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:105897600-105909000	Weak transcription	Aorta	Aorta
29	chr14:105897600-105909000	Weak transcription	HSMMtube	muscle
30	chr14:105897600-105914600	Weak transcription	Fetal Lung	lung
31	chr14:105897600-105927200	Weak transcription	NH-A	brain
32	chr14:105897800-105905200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:105897800-105905400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:105897800-105908200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:105897800-105940000	Weak transcription	K562	blood
36	chr14:105898000-105905200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:105898000-105909000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:105898400-105908800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
41	chr14:105898600-105906000	Weak transcription	Osteobl	bone
42	chr14:105899800-105909000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:105900000-105905200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:105900000-105906400	Weak transcription	HMEC	breast
45	chr14:105900000-105908800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:105900000-105915800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:105900200-105908800	Weak transcription	HSMM	muscle
48	chr14:105900800-105916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:105901600-105905400	Weak transcription	Liver	Liver
50	chr14:105901600-105906200	Weak transcription	A549	lung

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