Variant report

Variant	rs74024450
Chromosome Location	chr16:70787937-70787938
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70780242..70783791-chr16:70785979..70788934,3	K562	blood:
2	chr16:70613262..70615698-chr16:70787061..70789499,2	K562	blood:
3	chr16:70690639..70692190-chr16:70786277..70788238,2	MCF-7	breast:
4	chr16:70747966..70750643-chr16:70785979..70788271,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260156	Chromatin interaction
ENSG00000157368	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28605599	0.84[AFR][1000 genomes]
rs55789619	0.80[AFR][1000 genomes]
rs7185508	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7188712	0.82[AFR][1000 genomes]
rs8058702	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription 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
6	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:70773000-70805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:70777800-70788400	Enhancers	Psoas Muscle	Psoas
6	chr16:70778400-70788200	Enhancers	Liver	Liver
7	chr16:70778800-70788000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:70779000-70788600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr16:70779400-70791600	Weak transcription	Dnd41	blood
10	chr16:70779600-70788200	Enhancers	Adipose Nuclei	Adipose
11	chr16:70779800-70788000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:70780000-70789800	Genic enhancers	Fetal Stomach	stomach
13	chr16:70781200-70791600	Weak transcription	Aorta	Aorta
14	chr16:70781200-70794200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:70781200-70798600	Weak transcription	Hela-S3	cervix
16	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:70781400-70788000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:70781600-70789000	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:70781800-70815000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr16:70782000-70791400	Weak transcription	GM12878-XiMat	blood
21	chr16:70782200-70788400	Enhancers	Stomach Mucosa	stomach
22	chr16:70782600-70792800	Weak transcription	K562	blood
23	chr16:70782800-70790000	Weak transcription	HMEC	breast
24	chr16:70783400-70788200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr16:70783400-70788600	Genic enhancers	Spleen	Spleen
26	chr16:70783400-70794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr16:70783600-70789200	Weak transcription	NHEK	skin
28	chr16:70783800-70788200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:70783800-70788200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:70783800-70797000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:70784200-70790600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:70784200-70794200	Weak transcription	Small Intestine	intestine
33	chr16:70784600-70789800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:70784800-70788400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:70784800-70790000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr16:70784800-70790400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr16:70784800-70790600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:70785000-70788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:70785000-70790000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr16:70785000-70791000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr16:70785000-70792800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:70785000-70814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:70785000-70814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:70785200-70788000	Weak transcription	Brain Germinal Matrix	brain
46	chr16:70785200-70790600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr16:70785200-70794400	Weak transcription	Fetal Brain Male	brain
48	chr16:70785400-70788800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr16:70785400-70789000	Weak transcription	Fetal Brain Female	brain
50	chr16:70785600-70788000	Weak transcription	Primary T cells fromperipheralblood	blood

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