Variant report

Variant	rs61793368
Chromosome Location	chr4:22487796-22487797
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22487490..22489243-chr4:22491775..22493390,2	K562	blood:
2	chr4:22486301..22488142-chr4:22490876..22493757,2	MCF-7	breast:
3	chr4:22487743..22489336-chr4:22491654..22493275,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16872739	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872745	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423859	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55747913	0.82[ASN][1000 genomes]
rs55785050	0.87[ASN][1000 genomes]
rs58836068	0.82[ASN][1000 genomes]
rs61793366	1.00[ASN][1000 genomes]
rs61793367	1.00[ASN][1000 genomes]
rs61793374	0.87[ASN][1000 genomes]
rs61793403	0.87[ASN][1000 genomes]
rs61793407	0.87[ASN][1000 genomes]
rs61793409	0.82[ASN][1000 genomes]
rs717674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
2	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:22475000-22489400	Weak transcription	Lung	lung
5	chr4:22477800-22489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:22482200-22488800	Enhancers	HMEC	breast
7	chr4:22483000-22488400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:22483400-22488200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:22484000-22488400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:22484000-22488600	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:22484200-22488800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:22484200-22488800	Enhancers	NH-A	brain
13	chr4:22484200-22489400	Enhancers	HSMMtube	muscle
14	chr4:22484200-22490400	Enhancers	Fetal Muscle Leg	muscle
15	chr4:22484400-22489000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:22484600-22488400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:22484600-22489400	Enhancers	Fetal Lung	lung
18	chr4:22484800-22488600	Enhancers	NHDF-Ad	bronchial
19	chr4:22484800-22489000	Weak transcription	Right Atrium	heart
20	chr4:22484800-22492400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:22484800-22493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:22484800-22498400	Weak transcription	Gastric	stomach
23	chr4:22485000-22488600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:22485000-22489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:22485000-22490200	Enhancers	Colon Smooth Muscle	Colon
26	chr4:22485000-22492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
28	chr4:22485200-22489400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:22485400-22487800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:22485400-22487800	Weak transcription	HepG2	liver
31	chr4:22485400-22492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:22485600-22488000	Weak transcription	Fetal Kidney	kidney
33	chr4:22485600-22488200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:22485600-22488600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:22485600-22489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:22485600-22489600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:22485600-22492400	Weak transcription	Liver	Liver
38	chr4:22485600-22493200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:22485600-22501400	Weak transcription	Hela-S3	cervix
40	chr4:22485600-22502000	Weak transcription	A549	lung
41	chr4:22485800-22491600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:22486000-22488000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:22486000-22489200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:22486200-22487800	Enhancers	Ovary	ovary
45	chr4:22486200-22488200	Weak transcription	Fetal Intestine Small	intestine
46	chr4:22486200-22489400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:22486200-22489400	Enhancers	Fetal Stomach	stomach
48	chr4:22486400-22488000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:22486400-22488200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:22486400-22500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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