Variant report

Variant	rs73814779
Chromosome Location	chr4:48512177-48512178
allele	A/G
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	REST	chr4:48511318-48512460	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48511241..48512896-chr4:48522304..48524350,2	K562	blood:
2	chr4:48510100..48513571-chr4:48516214..48518861,3	K562	blood:
3	chr4:48499151..48501205-chr4:48509825..48512778,2	K562	blood:

Variant related genes	Relation type
FRYL	TF binding region
ENSG00000075539	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs59726717	1.00[AFR][1000 genomes]
rs60469006	1.00[AFR][1000 genomes]
rs6810558	1.00[AFR][1000 genomes]
rs73814760	1.00[AFR][1000 genomes]
rs73814777	1.00[AFR][1000 genomes]
rs73814778	1.00[AFR][1000 genomes]
rs73814780	1.00[AFR][1000 genomes]
rs73814783	1.00[AFR][1000 genomes]
rs7677979	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48493600-48523000	Weak transcription	Right Ventricle	heart
2	chr4:48495200-48513600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:48495400-48523000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:48497000-48521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:48499400-48527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:48499600-48581400	Strong transcription	Dnd41	blood
14	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr4:48500200-48517400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:48501600-48523000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:48503400-48520400	Weak transcription	NHLF	lung
22	chr4:48504000-48514600	Weak transcription	Hela-S3	cervix
23	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:48504600-48534400	Strong transcription	Liver	Liver
25	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:48505400-48538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:48505400-48540000	Strong transcription	HSMM	muscle
28	chr4:48505600-48517200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:48506000-48538800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr4:48506400-48517200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:48506400-48518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:48506800-48517600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:48507000-48517200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:48507200-48514600	Strong transcription	HMEC	breast
35	chr4:48507200-48517400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:48507200-48517400	Strong transcription	Fetal Intestine Large	intestine
37	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
38	chr4:48507400-48517200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:48507400-48517400	Strong transcription	GM12878-XiMat	blood
40	chr4:48507400-48536200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:48507600-48512200	Genic enhancers	Brain Cingulate Gyrus	brain
42	chr4:48507600-48514600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr4:48507600-48516000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:48507600-48517200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:48507600-48517200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:48507600-48517200	Strong transcription	NHEK	skin
47	chr4:48507600-48517400	Strong transcription	HUVEC	blood vessel
48	chr4:48507600-48517600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:48507600-48517600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:48507600-48517600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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