Variant report

Variant	rs256937
Chromosome Location	chr5:16690443-16690444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16690107..16691016-chr5:16776506..16777632,8	MCF-7	breast:
2	chr5:16667013..16667892-chr5:16690340..16691325,2	MCF-7	breast:
3	chr5:16690097..16690919-chr5:17190336..17190908,2	MCF-7	breast:
4	chr5:16690101..16691036-chr5:16776467..16777868,10	MCF-7	breast:
5	chr5:16690040..16691056-chr5:17203092..17204089,5	MCF-7	breast:
6	chr5:16690385..16690941-chr5:16790933..16791791,2	MCF-7	breast:
7	chr5:16236004..16236570-chr5:16690055..16690976,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11955561	1.00[EUR][1000 genomes]
rs149110	1.00[EUR][1000 genomes]
rs256928	0.83[EUR][1000 genomes]
rs257048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526319	1.00[EUR][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	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv4737	chr5:16681166-16707357	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:16663600-16695400	Strong transcription	Fetal Intestine Small	intestine
4	chr5:16663800-16690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:16663800-16694400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:16663800-16698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
10	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:16664600-16690600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
17	chr5:16671000-16691000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
19	chr5:16674200-16693000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
21	chr5:16677800-16690800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:16677800-16706000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:16678000-16691000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:16678000-16691400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr5:16678200-16690800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr5:16678200-16691000	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:16678200-16691000	Strong transcription	NH-A	brain
28	chr5:16678200-16691200	Strong transcription	A549	lung
29	chr5:16678400-16690600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:16678400-16691000	Strong transcription	Lung	lung
31	chr5:16678600-16691000	Strong transcription	HMEC	breast
32	chr5:16678600-16695000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:16679600-16693200	Weak transcription	Esophagus	oesophagus
34	chr5:16679600-16701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:16680200-16695000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:16680400-16690600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:16681000-16693400	Weak transcription	Fetal Brain Male	brain
38	chr5:16681000-16699200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:16681400-16701000	Weak transcription	Colonic Mucosa	Colon
40	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
41	chr5:16682400-16699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:16682600-16694000	Weak transcription	Stomach Mucosa	stomach
44	chr5:16683200-16701000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:16683800-16707200	Weak transcription	Liver	Liver
46	chr5:16684000-16698600	Weak transcription	Aorta	Aorta
47	chr5:16684200-16693200	Weak transcription	Brain Germinal Matrix	brain
48	chr5:16684200-16700800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:16684600-16701200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:16685200-16690800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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