Variant report

Variant	rs73340638
Chromosome Location	chr14:45589906-45589907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45589887..45592546-chr14:45603511..45605128,2	MCF-7	breast:
2	chr14:45588053..45590795-chr14:45593001..45595990,2	MCF-7	breast:
3	chr14:45589261..45590963-chr14:45592333..45595448,3	K562	blood:
4	chr14:45573891..45575764-chr14:45588368..45591127,2	K562	blood:
5	chr14:45588507..45591401-chr14:45602425..45606701,5	MCF-7	breast:
6	chr14:45582194..45584596-chr14:45589898..45591419,2	MCF-7	breast:
7	chr14:45588951..45591712-chr14:45601296..45604783,3	K562	blood:

Variant related genes	Relation type
ENSG00000100442	Chromatin interaction
ENSG00000187790	Chromatin interaction

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

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

rs_ID	r²[population]
rs17115814	1.00[AFR][1000 genomes]
rs73340651	1.00[AMR][1000 genomes]
rs748963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:126 , 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	chr14:45559000-45591800	Weak transcription	Small Intestine	intestine
4	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:45563400-45598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:45563600-45599600	Strong transcription	Dnd41	blood
8	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:45564000-45592800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:45564000-45595000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:45564000-45596200	Strong transcription	Placenta	Placenta
12	chr14:45564000-45599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:45564000-45599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:45564000-45600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:45564200-45593400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr14:45564200-45599200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:45564200-45599200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:45564200-45599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:45564400-45593400	Strong transcription	Adipose Nuclei	Adipose
21	chr14:45564400-45598400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:45564400-45599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:45564400-45599200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:45564400-45599200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:45564400-45599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:45568400-45591000	Strong transcription	GM12878-XiMat	blood
28	chr14:45573200-45598800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:45573800-45602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:45575000-45591000	Strong transcription	HMEC	breast
31	chr14:45575000-45593600	Strong transcription	Brain Hippocampus Middle	brain
32	chr14:45576600-45593400	Strong transcription	Fetal Brain Female	brain
33	chr14:45576800-45593400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:45577200-45602800	Weak transcription	Aorta	Aorta
35	chr14:45579000-45590600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:45579000-45593800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:45579800-45599400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:45580000-45599200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:45581000-45590800	Strong transcription	Primary B cells from cord blood	blood
40	chr14:45581000-45591800	Weak transcription	Lung	lung
41	chr14:45581600-45590600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:45581800-45591000	Strong transcription	Fetal Thymus	thymus
43	chr14:45581800-45591200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr14:45581800-45600000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr14:45582000-45590800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:45582000-45591800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr14:45582200-45591000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:45582200-45595200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:45582200-45599000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr14:45582600-45590600	Strong transcription	Hela-S3	cervix

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