Variant report

Variant	rs173949
Chromosome Location	chr5:79407789-79407790
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs256434	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256436	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs441009	0.83[AMR][1000 genomes]
rs452106	0.85[AMR][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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79389400-79412200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:79389800-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:79393400-79410800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:79399400-79411000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:79402400-79410400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:79402400-79412200	Weak transcription	Left Ventricle	heart
7	chr5:79403000-79413000	Weak transcription	Dnd41	blood
8	chr5:79403800-79408000	Enhancers	Fetal Brain Male	brain
9	chr5:79404000-79409800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:79404000-79411000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:79404400-79407800	Enhancers	Fetal Heart	heart
12	chr5:79404800-79408200	Enhancers	Fetal Thymus	thymus
13	chr5:79404800-79412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:79405400-79407800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:79405400-79408000	Enhancers	Fetal Lung	lung
16	chr5:79405400-79408200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:79405400-79408200	Enhancers	Fetal Intestine Large	intestine
18	chr5:79405400-79408200	Enhancers	Fetal Intestine Small	intestine
19	chr5:79405400-79408200	Enhancers	Fetal Kidney	kidney
20	chr5:79405600-79407800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:79405600-79408000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:79405600-79408000	Enhancers	HepG2	liver
23	chr5:79405600-79408200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:79405600-79408200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:79405600-79408200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:79405800-79408000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:79405800-79408200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:79406000-79409600	Weak transcription	Thymus	Thymus
29	chr5:79406200-79408000	Enhancers	Pancreas	Pancrea
30	chr5:79406200-79409000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:79406200-79411600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:79406200-79421000	Weak transcription	Right Ventricle	heart
33	chr5:79406400-79407800	Enhancers	Fetal Brain Female	brain
34	chr5:79406400-79408000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:79406600-79407800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:79406600-79407800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:79406600-79411800	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:79406600-79412200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:79406600-79413000	Weak transcription	Ovary	ovary
40	chr5:79406800-79415200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:79407000-79407800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:79407000-79411000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:79407200-79407800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:79407400-79407800	Enhancers	Duodenum Mucosa	Duodenum
45	chr5:79407400-79408000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:79407400-79409000	Weak transcription	Primary T cells from cord blood	blood
47	chr5:79407400-79409000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:79407400-79409600	Weak transcription	Gastric	stomach
49	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:79407600-79407800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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