Variant report

Variant	rs7142643
Chromosome Location	chr14:77829125-77829126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77828784..77831328-chr14:77834341..77836225,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2363639	0.83[AMR][1000 genomes]
rs56686781	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60966860	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7141816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142535	0.83[AMR][1000 genomes]
rs7144883	0.95[AFR][1000 genomes];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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77803800-77835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:77806400-77838600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:77808400-77830600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:77809600-77842000	Weak transcription	HUVEC	blood vessel
5	chr14:77810000-77838800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:77811200-77830000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:77811200-77835000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:77812800-77842000	Weak transcription	Pancreas	Pancrea
9	chr14:77813000-77835600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:77813800-77842400	Weak transcription	Aorta	Aorta
11	chr14:77816800-77835600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:77817000-77842000	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:77817200-77840000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:77817200-77841600	Weak transcription	Brain Germinal Matrix	brain
15	chr14:77817200-77842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:77817400-77830400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:77817400-77830600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:77817400-77835200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:77817400-77835400	Weak transcription	Primary T cells from cord blood	blood
20	chr14:77817400-77841200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:77817600-77835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:77817800-77837600	Weak transcription	Fetal Intestine Small	intestine
23	chr14:77818000-77842000	Weak transcription	Fetal Stomach	stomach
24	chr14:77818200-77831800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:77818200-77835400	Weak transcription	Dnd41	blood
26	chr14:77822400-77841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:77823600-77829200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:77824200-77835800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:77826200-77837800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:77827200-77837600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:77827800-77829800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:77827800-77835600	Weak transcription	Primary B cells from cord blood	blood
33	chr14:77828800-77835200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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