Variant report

Variant	rs73359058
Chromosome Location	chr14:105819124-105819125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:105818980-105819130	AoAF	blood vessel:	n/a	n/a
2	EBF1	chr14:105818560-105819486	GM12878	blood:	n/a	chr14:105819002-105819013 chr14:105818970-105818981 chr14:105818938-105818949
3	EBF1	chr14:105818553-105819880	GM12878	blood:	n/a	chr14:105819002-105819013 chr14:105818970-105818981 chr14:105818938-105818949
4	CTCF	chr14:105818306-105819223	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr14:105819060-105819210	NHEK	skin:	n/a	n/a
6	CTCF	chr14:105819000-105819150	AG09309	skin:	n/a	n/a
7	EBF1	chr14:105818559-105819627	GM12878	blood:	n/a	chr14:105819002-105819013 chr14:105818970-105818981 chr14:105818938-105818949

No.	Distal block	Cell Line	Cell type
1	chr14:105556545..105557474-chr14:105818256..105819211,4	K562	blood:
2	chr14:105667108..105669624-chr14:105818365..105820045,2	K562	blood:
3	chr14:105669105..105670016-chr14:105818280..105819197,4	K562	blood:
4	chr14:105635593..105636402-chr14:105818301..105819224,3	K562	blood:
5	chr14:105647073..105649284-chr14:105818650..105821094,2	MCF-7	breast:
6	chr14:105747896..105748753-chr14:105818337..105819210,2	MCF-7	breast:

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000183828	Chromatin interaction
ENSG00000257622	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11847153	0.83[AMR][1000 genomes]
rs11847295	1.00[AMR][1000 genomes]
rs12101178	0.83[AMR][1000 genomes]
rs28589825	1.00[AMR][1000 genomes]
rs60719574	1.00[AMR][1000 genomes]
rs73357398	1.00[AMR][1000 genomes]
rs73359013	1.00[AMR][1000 genomes]
rs73359059	1.00[AMR][1000 genomes]
rs73359061	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359066	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359072	1.00[AMR][1000 genomes]
rs8021520	1.00[AMR][1000 genomes]
rs8021663	1.00[AMR][1000 genomes]
rs9671890	0.83[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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105784000-105821800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:105793800-105821000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:105797200-105820800	Weak transcription	NHLF	lung
5	chr14:105797400-105821200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:105799000-105822200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:105799800-105830800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:105804600-105821000	Weak transcription	Gastric	stomach
9	chr14:105804600-105829800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr14:105807400-105830800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:105807400-105833600	Weak transcription	Aorta	Aorta
12	chr14:105808600-105848600	Weak transcription	HSMMtube	muscle
13	chr14:105809800-105821200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:105809800-105830200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:105809800-105830400	Weak transcription	Fetal Lung	lung
16	chr14:105810000-105833800	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:105812600-105829600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:105812800-105821000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:105813400-105828000	Strong transcription	Fetal Intestine Small	intestine
20	chr14:105813800-105828400	Strong transcription	Fetal Stomach	stomach
21	chr14:105814000-105822000	Weak transcription	Psoas Muscle	Psoas
22	chr14:105814200-105820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:105814200-105823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:105814200-105848600	Weak transcription	Left Ventricle	heart
25	chr14:105815000-105821400	Weak transcription	Colonic Mucosa	Colon
26	chr14:105816400-105831000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:105816600-105820200	Weak transcription	Fetal Intestine Large	intestine
28	chr14:105816600-105820600	Weak transcription	Primary T cells from cord blood	blood
29	chr14:105816800-105819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:105816800-105820600	Weak transcription	Thymus	Thymus
31	chr14:105816800-105821600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:105817200-105820600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:105817200-105821000	Weak transcription	Esophagus	oesophagus
34	chr14:105817200-105821000	Weak transcription	Ovary	ovary
35	chr14:105817400-105821400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:105817600-105820000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:105817600-105820800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:105817600-105821000	Weak transcription	Brain Germinal Matrix	brain
39	chr14:105817800-105821200	Weak transcription	Dnd41	blood
40	chr14:105818000-105819400	Enhancers	Primary B cells from peripheral blood	blood
41	chr14:105818000-105821000	Weak transcription	Fetal Brain Female	brain
42	chr14:105818200-105826800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:105818400-105821400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:105818400-105822800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:105818600-105819600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:105818600-105820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:105818600-105820200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:105818600-105820200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:105818600-105820800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:105818600-105820800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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