Variant report

Variant	rs550724627
Chromosome Location	chr14:45622296-45622297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
10	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	esv1795403	chr14:45622265-45650813	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45606000-45634600	Weak transcription	Esophagus	oesophagus
2	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:45606200-45622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:45606600-45630600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:45606600-45634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:45606600-45636400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:45607000-45636400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:45607000-45660000	Weak transcription	Ovary	ovary
10	chr14:45607200-45633200	Weak transcription	Fetal Thymus	thymus
11	chr14:45607200-45634800	Weak transcription	HSMM	muscle
12	chr14:45607200-45638800	Weak transcription	Fetal Brain Female	brain
13	chr14:45607200-45639000	Weak transcription	Liver	Liver
14	chr14:45607400-45633200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:45607400-45633200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:45607400-45633600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:45607400-45633600	Weak transcription	Adipose Nuclei	Adipose
18	chr14:45607400-45633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:45607400-45634400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:45607400-45635600	Weak transcription	Fetal Lung	lung
21	chr14:45607400-45636600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:45607400-45650200	Weak transcription	NH-A	brain
23	chr14:45607400-45656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:45607400-45678400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:45607600-45624600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:45607600-45633400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:45607600-45633400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:45608000-45683000	Weak transcription	K562	blood
29	chr14:45608200-45633400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:45608200-45635000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:45608200-45635600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:45608200-45636200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:45608200-45639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:45608400-45633600	Weak transcription	HUVEC	blood vessel
35	chr14:45608400-45635000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:45608400-45668400	Weak transcription	NHDF-Ad	bronchial
37	chr14:45608800-45633000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:45609800-45623800	Weak transcription	Hela-S3	cervix
39	chr14:45610200-45636800	Weak transcription	NHEK	skin
40	chr14:45610200-45667400	Weak transcription	HMEC	breast
41	chr14:45610400-45633000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:45614000-45638000	Weak transcription	Lung	lung
43	chr14:45614200-45632400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:45614200-45633400	Weak transcription	A549	lung
45	chr14:45614400-45629400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:45614400-45633200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:45614400-45637800	Weak transcription	Spleen	Spleen
48	chr14:45614400-45675000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr14:45614600-45625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:45614600-45632600	Weak transcription	Primary T cells from cord blood	blood

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