Variant report

Variant	rs4697014
Chromosome Location	chr4:22489361-22489362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22488399..22490950-chr4:22493521..22495053,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10938903	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103323	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1462988	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841823	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4697015	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4697308	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4697309	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:22475000-22489400	Weak transcription	Lung	lung
4	chr4:22484200-22489400	Enhancers	HSMMtube	muscle
5	chr4:22484200-22490400	Enhancers	Fetal Muscle Leg	muscle
6	chr4:22484600-22489400	Enhancers	Fetal Lung	lung
7	chr4:22484800-22492400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:22484800-22493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:22484800-22498400	Weak transcription	Gastric	stomach
10	chr4:22485000-22490200	Enhancers	Colon Smooth Muscle	Colon
11	chr4:22485000-22492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
13	chr4:22485200-22489400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:22485400-22492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:22485600-22489600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:22485600-22492400	Weak transcription	Liver	Liver
17	chr4:22485600-22493200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:22485600-22501400	Weak transcription	Hela-S3	cervix
19	chr4:22485600-22502000	Weak transcription	A549	lung
20	chr4:22485800-22491600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:22486200-22489400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:22486200-22489400	Enhancers	Fetal Stomach	stomach
23	chr4:22486400-22500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:22486600-22489600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:22486600-22492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:22486600-22492200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:22486600-22492400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:22486800-22490200	Enhancers	Left Ventricle	heart
29	chr4:22486800-22490200	Enhancers	Psoas Muscle	Psoas
30	chr4:22486800-22492400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:22487000-22489600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:22487200-22490200	Enhancers	Fetal Heart	heart
33	chr4:22487200-22490200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:22487400-22489800	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:22487400-22490200	Enhancers	Right Ventricle	heart
36	chr4:22487800-22489600	Enhancers	HSMM	muscle
37	chr4:22487800-22490600	Enhancers	HepG2	liver
38	chr4:22487800-22492400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:22488000-22489400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:22488000-22489400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:22488000-22489600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:22488000-22489600	Enhancers	Pancreas	Pancrea
43	chr4:22488000-22490200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:22488000-22494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:22488200-22489400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:22488200-22489400	Enhancers	Fetal Intestine Small	intestine
47	chr4:22488200-22491400	Weak transcription	Aorta	Aorta
48	chr4:22488400-22503000	Weak transcription	Small Intestine	intestine
49	chr4:22488600-22489400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:22488600-22489400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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