Variant report

Variant	rs533122666
Chromosome Location	chr14:31069498-31069499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31062088..31063595-chr14:31068760..31070343,2	MCF-7	breast:
2	chr14:31067708..31069634-chr14:31090291..31092583,3	MCF-7	breast:
3	chr14:31067916..31070610-chr14:31073012..31074923,2	MCF-7	breast:
4	chr14:31069035..31071443-chr14:31073257..31074780,2	K562	blood:
5	chr14:31069000..31071330-chr14:31089606..31092112,2	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31033800-31070000	Weak transcription	Lung	lung
4	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:31043000-31079600	Weak transcription	Gastric	stomach
6	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
7	chr14:31045000-31070000	Weak transcription	Aorta	Aorta
8	chr14:31046800-31069800	Weak transcription	Fetal Kidney	kidney
9	chr14:31047000-31069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
11	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
13	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
14	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
15	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
16	chr14:31053800-31070200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:31054800-31072000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:31055400-31069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:31055400-31070000	Weak transcription	Colonic Mucosa	Colon
24	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:31057200-31071800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:31057400-31077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
29	chr14:31058800-31069800	Weak transcription	Spleen	Spleen
30	chr14:31058800-31074800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:31059800-31080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:31060000-31070000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:31061000-31071800	Weak transcription	NHLF	lung
34	chr14:31061400-31070200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:31063000-31069600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:31064200-31078200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:31064600-31073800	Strong transcription	Primary B cells from cord blood	blood
40	chr14:31064800-31078000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr14:31064800-31086600	Strong transcription	Dnd41	blood
42	chr14:31064800-31087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:31065000-31075000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr14:31065400-31075000	Strong transcription	GM12878-XiMat	blood
45	chr14:31065600-31072600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:31065600-31076800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:31065600-31086600	Strong transcription	HepG2	liver
48	chr14:31065800-31083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:31065800-31086800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:31065800-31087000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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