Variant report

Variant	rs7654653
Chromosome Location	chr4:48554222-48554223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57497658	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58095795	1.00[AMR][1000 genomes]
rs61172437	1.00[AMR][1000 genomes]
rs6812980	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6823932	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7670111	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr4:48499600-48581400	Strong transcription	Dnd41	blood
5	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
10	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
11	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
12	chr4:48519400-48566200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:48522600-48563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:48525000-48595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:48528200-48596000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:48540600-48580400	Strong transcription	Fetal Intestine Large	intestine
17	chr4:48540800-48576000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:48541000-48580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:48541000-48587800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:48541200-48560000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:48541200-48566600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr4:48541200-48567000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:48541200-48594000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr4:48541400-48554400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:48541400-48554400	Strong transcription	Brain Hippocampus Middle	brain
26	chr4:48541400-48555800	Strong transcription	Primary B cells from cord blood	blood
27	chr4:48541400-48566200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:48541400-48581200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:48541600-48568800	Strong transcription	Placenta	Placenta
30	chr4:48541600-48581400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:48541800-48579800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr4:48542000-48554400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:48542000-48556200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:48542400-48554400	Strong transcription	Left Ventricle	heart
35	chr4:48542400-48564000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:48542400-48564000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr4:48542400-48568200	Strong transcription	Brain Substantia Nigra	brain
38	chr4:48542800-48604400	Weak transcription	A549	lung
39	chr4:48544400-48560200	Weak transcription	Fetal Heart	heart
40	chr4:48544400-48561000	Weak transcription	Stomach Mucosa	stomach
41	chr4:48544400-48566000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:48545200-48618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:48545800-48558200	Weak transcription	HepG2	liver
44	chr4:48546000-48571800	Weak transcription	Psoas Muscle	Psoas
45	chr4:48546200-48556800	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:48546200-48557400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:48546400-48596400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:48546600-48578600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:48547400-48578800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:48547400-48593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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