Variant report

Variant	rs74061423
Chromosome Location	chr14:70237653-70237654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70124205..70126488-chr14:70237428..70239056,2	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55668218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55677947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59017109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59710581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59781261	1.00[AMR][1000 genomes]
rs60048839	1.00[AMR][1000 genomes]
rs73283370	1.00[AMR][1000 genomes]
rs73285222	1.00[AMR][1000 genomes]
rs74060478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060497	1.00[AMR][1000 genomes]
rs74060550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061428	1.00[AMR][1000 genomes]
rs74061431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061442	1.00[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70234800-70237800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr14:70234800-70238200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr14:70235400-70238200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:70235400-70241200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:70235400-70248200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr14:70235600-70238200	Genic enhancers	Lung	lung
7	chr14:70235600-70238200	Genic enhancers	Pancreas	Pancrea
8	chr14:70235600-70238200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
9	chr14:70235600-70244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:70235600-70246200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:70235600-70247000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:70235800-70237800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:70235800-70237800	Genic enhancers	Fetal Kidney	kidney
14	chr14:70235800-70238200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:70235800-70238200	Genic enhancers	Fetal Intestine Large	intestine
16	chr14:70235800-70238200	Genic enhancers	Left Ventricle	heart
17	chr14:70235800-70239600	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr14:70235800-70240200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:70235800-70240600	Genic enhancers	Liver	Liver
20	chr14:70235800-70241200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:70235800-70241400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:70235800-70244200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr14:70235800-70244400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr14:70235800-70246200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:70235800-70246400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:70235800-70246600	Strong transcription	HSMMtube	muscle
27	chr14:70235800-70246800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr14:70235800-70248800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:70235800-70249200	Strong transcription	HSMM	muscle
30	chr14:70236000-70238000	Genic enhancers	Fetal Intestine Small	intestine
31	chr14:70236000-70238200	Genic enhancers	Ovary	ovary
32	chr14:70236000-70238400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr14:70236000-70240400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr14:70236000-70242000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:70236000-70245400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:70236000-70247000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:70236000-70247600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:70236000-70248800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:70236200-70238200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:70236400-70238200	Genic enhancers	Right Ventricle	heart
41	chr14:70236400-70238600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:70236400-70239800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:70236400-70242400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:70236400-70246400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:70236400-70248800	Strong transcription	Primary B cells from cord blood	blood
46	chr14:70236600-70237800	Genic enhancers	Brain Anterior Caudate	brain
47	chr14:70236600-70237800	Genic enhancers	Brain Hippocampus Middle	brain
48	chr14:70236600-70238000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:70236600-70238000	Genic enhancers	Psoas Muscle	Psoas
50	chr14:70236600-70238000	Genic enhancers	Dnd41	blood

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