Variant report

Variant	rs56664915
Chromosome Location	chr4:16066953-16066954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16892885	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16892891	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16892920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56981596	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57719815	0.89[ASN][1000 genomes]
rs58265184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58682368	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59531672	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60197637	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61327798	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62288713	1.00[AFR][1000 genomes]
rs6817756	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16034400-16072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:16045800-16067200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:16046800-16069600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:16051200-16067200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:16058000-16068600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:16058600-16067000	Weak transcription	Pancreas	Pancrea
7	chr4:16058600-16068400	Weak transcription	Gastric	stomach
8	chr4:16058600-16068600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:16058600-16068800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:16058600-16077400	Weak transcription	Aorta	Aorta
11	chr4:16058600-16079800	Weak transcription	Right Atrium	heart
12	chr4:16058600-16080400	Weak transcription	Fetal Intestine Small	intestine
13	chr4:16059000-16068400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:16059200-16068600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:16059800-16067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:16059800-16068200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:16059800-16068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:16059800-16073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:16061200-16068000	Weak transcription	Stomach Mucosa	stomach
20	chr4:16063200-16067600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:16063400-16067000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:16064000-16071800	Weak transcription	Psoas Muscle	Psoas
23	chr4:16064400-16069000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:16064600-16067400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:16064600-16067600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr4:16064600-16069000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:16064600-16071000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:16065000-16069200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:16065000-16075800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:16065200-16068800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:16065400-16069600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:16065800-16067400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:16065800-16069800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:16066000-16069000	Weak transcription	HepG2	liver
35	chr4:16066000-16077600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:16066200-16081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:16066600-16067000	Strong transcription	Fetal Muscle Leg	muscle
38	chr4:16066600-16067200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:16066600-16067200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr4:16066600-16067600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:16066600-16067800	Strong transcription	Colonic Mucosa	Colon
42	chr4:16066600-16069400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr4:16066600-16069600	Enhancers	Placenta	Placenta
44	chr4:16066600-16069800	Genic enhancers	Fetal Stomach	stomach
45	chr4:16066600-16072800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:16066800-16067000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:16066800-16067000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:16066800-16067000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:16066800-16067200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:16066800-16067400	Strong transcription	Rectal Mucosa Donor 31	rectum

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