Variant report

Variant	rs74024416
Chromosome Location	chr16:70680624-70680625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr16:70680474-70680879	SH-SY5Y	brain:	n/a	chr16:70680662-70680669 chr16:70680660-70680670 chr16:70680660-70680669 chr16:70680483-70680494 chr16:70680659-70680671

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70556330..70559172-chr16:70679219..70681139,2	MCF-7	breast:

Variant related genes	Relation type
IL34	TF binding region
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10163215	1.00[AMR][1000 genomes]
rs10163436	1.00[AMR][1000 genomes]
rs11859014	1.00[AMR][1000 genomes]
rs11866663	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970407	1.00[AMR][1000 genomes]
rs55638004	1.00[AMR][1000 genomes]
rs55641601	1.00[AMR][1000 genomes]
rs55952842	1.00[AMR][1000 genomes]
rs57770619	1.00[AMR][1000 genomes]
rs57982245	1.00[AMR][1000 genomes]
rs59149508	1.00[AMR][1000 genomes]
rs60762222	1.00[AMR][1000 genomes]
rs61077008	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206509	1.00[AMR][1000 genomes]
rs7206831	1.00[AMR][1000 genomes]
rs74024403	1.00[AMR][1000 genomes]
rs74024404	1.00[AMR][1000 genomes]
rs74024407	1.00[AMR][1000 genomes]
rs74024409	1.00[AMR][1000 genomes]
rs74024410	1.00[AMR][1000 genomes]
rs74026072	1.00[AMR][1000 genomes]
rs74026076	1.00[AMR][1000 genomes]
rs74026080	1.00[AMR][1000 genomes]
rs74026081	1.00[AMR][1000 genomes]
rs8049495	1.00[AMR][1000 genomes]
rs8054087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8057671	1.00[AMR][1000 genomes]
rs8061445	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
2	chr16:70673600-70683200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70673600-70684000	Weak transcription	Esophagus	oesophagus
4	chr16:70673800-70682800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:70678000-70681200	Weak transcription	Fetal Intestine Large	intestine
6	chr16:70679600-70681000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70679600-70681400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:70679800-70681200	Enhancers	Placenta	Placenta
9	chr16:70679800-70682400	Enhancers	Fetal Brain Male	brain
10	chr16:70680000-70681000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:70680000-70681000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr16:70680000-70682000	Enhancers	Fetal Muscle Leg	muscle
13	chr16:70680000-70687200	Strong transcription	Fetal Intestine Small	intestine
14	chr16:70680200-70680800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:70680200-70680800	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr16:70680200-70680800	Active TSS	Brain Substantia Nigra	brain
17	chr16:70680200-70681000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:70680200-70681000	Flanking Active TSS	Fetal Brain Female	brain
19	chr16:70680200-70681200	Genic enhancers	Fetal Stomach	stomach
20	chr16:70680200-70681400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:70680200-70681400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr16:70680200-70681800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:70680200-70681800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:70680200-70681800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:70680200-70681800	Enhancers	Ovary	ovary
26	chr16:70680200-70683400	Active TSS	Brain Angular Gyrus	brain
27	chr16:70680400-70681400	Active TSS	Stomach Smooth Muscle	stomach
28	chr16:70680400-70681600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:70680400-70683600	Active TSS	Brain Hippocampus Middle	brain
30	chr16:70680400-70685600	Genic enhancers	Spleen	Spleen
31	chr16:70680600-70680800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr16:70680600-70680800	Enhancers	Colonic Mucosa	Colon
33	chr16:70680600-70680800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr16:70680600-70680800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr16:70680600-70680800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr16:70680600-70681000	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr16:70680600-70681000	Flanking Active TSS	HSMM	muscle
38	chr16:70680600-70681400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr16:70680600-70681600	Flanking Active TSS	HSMMtube	muscle
40	chr16:70680600-70681800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:70680600-70682000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr16:70680600-70682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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