Variant report

Variant	rs8022776
Chromosome Location	chr14:45594543-45594544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45594212..45595797-chr14:45601381..45603807,2	K562	blood:
2	chr14:45588053..45590795-chr14:45593001..45595990,2	MCF-7	breast:
3	chr14:45580494..45583675-chr14:45592106..45595517,3	MCF-7	breast:
4	chr14:45589261..45590963-chr14:45592333..45595448,3	K562	blood:

Variant related genes	Relation type
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10135653	1.00[JPT][hapmap]
rs12894232	1.00[LWK][hapmap]
rs226983	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:45563400-45598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:45563600-45599600	Strong transcription	Dnd41	blood
7	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:45564000-45595000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:45564000-45596200	Strong transcription	Placenta	Placenta
10	chr14:45564000-45599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:45564000-45599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:45564000-45600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:45564200-45599200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:45564200-45599200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:45564200-45599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:45564400-45598400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:45564400-45599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:45564400-45599200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:45564400-45599200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:45564400-45599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:45573200-45598800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:45573800-45602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:45577200-45602800	Weak transcription	Aorta	Aorta
26	chr14:45579800-45599400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:45580000-45599200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:45581800-45600000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr14:45582200-45595200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:45582200-45599000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:45582600-45596400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:45582600-45597600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:45582800-45596000	Strong transcription	NH-A	brain
34	chr14:45582800-45598800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:45582800-45598800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:45583000-45598600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:45583000-45599000	Strong transcription	Liver	Liver
38	chr14:45583000-45602800	Weak transcription	Stomach Mucosa	stomach
39	chr14:45583200-45594600	Strong transcription	Fetal Lung	lung
40	chr14:45583200-45602000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr14:45583800-45602800	Weak transcription	Fetal Brain Male	brain
42	chr14:45584600-45595600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr14:45584800-45596000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:45584800-45599000	Strong transcription	Fetal Intestine Large	intestine
45	chr14:45585200-45595000	Strong transcription	A549	lung
46	chr14:45585600-45602000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:45586400-45595000	Weak transcription	Ovary	ovary
48	chr14:45586400-45602400	Weak transcription	Pancreas	Pancrea
49	chr14:45586600-45602600	Weak transcription	Colonic Mucosa	Colon
50	chr14:45586800-45602800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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