Variant report

Variant	rs74063216
Chromosome Location	chr14:77988838-77988839
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77935395..77937694-chr14:77986680..77989450,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10151175	1.00[AMR][1000 genomes]
rs28584952	1.00[AMR][1000 genomes]
rs28628100	1.00[AMR][1000 genomes]
rs28806494	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
2	chr14:77970800-77992600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:77971000-77991400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:77971600-77991800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:77972000-78018000	Weak transcription	Hela-S3	cervix
6	chr14:77972200-77991400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:77972200-77991600	Strong transcription	Primary B cells from cord blood	blood
8	chr14:77972600-77991400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:77972600-77992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:77974000-77989800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:77975800-77990000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:77978000-78013400	Weak transcription	NHDF-Ad	bronchial
13	chr14:77978400-77992000	Weak transcription	NHLF	lung
14	chr14:77978600-77992400	Weak transcription	Fetal Lung	lung
15	chr14:77978600-78014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:77978800-77989000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:77978800-77989400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:77978800-77991400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:77978800-77992800	Weak transcription	Fetal Brain Female	brain
20	chr14:77978800-78042200	Weak transcription	Fetal Brain Male	brain
21	chr14:77979000-78003800	Weak transcription	K562	blood
22	chr14:77979000-78009400	Weak transcription	Stomach Mucosa	stomach
23	chr14:77979000-78013800	Weak transcription	Pancreas	Pancrea
24	chr14:77979400-77997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:77980600-77990000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr14:77980600-77990000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr14:77980800-77990000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:77981000-77989600	Strong transcription	NH-A	brain
29	chr14:77982800-77999800	Weak transcription	A549	lung
30	chr14:77984000-77989400	Strong transcription	HUVEC	blood vessel
31	chr14:77985000-77989600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:77985200-77991800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr14:77985200-78008800	Weak transcription	Gastric	stomach
34	chr14:77985200-78014800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:77985400-77991400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr14:77985400-78007800	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:77985400-78015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:77985600-77989600	Weak transcription	Lung	lung
39	chr14:77985600-78007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:77986000-77991200	Strong transcription	HSMM	muscle
41	chr14:77986200-77989600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:77986200-78013800	Weak transcription	Esophagus	oesophagus
43	chr14:77986800-78008600	Weak transcription	Brain Germinal Matrix	brain
44	chr14:77987000-77991200	Strong transcription	NHEK	skin
45	chr14:77987400-77989400	Weak transcription	HepG2	liver
46	chr14:77987400-77991600	Weak transcription	Fetal Stomach	stomach
47	chr14:77987400-77999400	Weak transcription	Fetal Intestine Small	intestine
48	chr14:77987400-78009200	Weak transcription	Aorta	Aorta
49	chr14:77987400-78021000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr14:77987600-77989400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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