Variant report

Variant	rs34630302
Chromosome Location	chr3:49989773-49989774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs34379671	1.00[AMR][1000 genomes]
rs35481257	1.00[AMR][1000 genomes]
rs41464448	1.00[AMR][1000 genomes]
rs6772424	1.00[AMR][1000 genomes]
rs6793856	1.00[AMR][1000 genomes]
rs6797615	1.00[AMR][1000 genomes]
rs6798832	1.00[AMR][1000 genomes]
rs72927503	1.00[AMR][1000 genomes]
rs72927522	1.00[AMR][1000 genomes]
rs72927529	1.00[AMR][1000 genomes]
rs72938200	1.00[AMR][1000 genomes]
rs7615240	1.00[AMR][1000 genomes]
rs7616171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7634945	1.00[AMR][1000 genomes]
rs7637266	1.00[AMR][1000 genomes]
rs7641976	1.00[AMR][1000 genomes]
rs7648632	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3463339	chr3:49986019-49993235	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3463340	chr3:49986019-49993235	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:49978800-50009600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:49978800-50009600	Weak transcription	Fetal Kidney	kidney
5	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:49979000-49990200	Weak transcription	Fetal Lung	lung
7	chr3:49979000-49990600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:49979000-49994600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:49979000-49997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:49979000-50000000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr3:49979000-50000600	Weak transcription	Primary T cells from cord blood	blood
12	chr3:49979000-50001000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:49979000-50003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:49979000-50003600	Weak transcription	Right Ventricle	heart
15	chr3:49979000-50005200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:49979000-50010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:49979400-49990800	Weak transcription	Thymus	Thymus
18	chr3:49979400-49995400	Weak transcription	Placenta	Placenta
19	chr3:49979400-49999000	Weak transcription	Fetal Thymus	thymus
20	chr3:49979400-49999600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:49979400-50000400	Weak transcription	Brain Germinal Matrix	brain
22	chr3:49979600-49999800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:49979600-50004200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:49980200-49991400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:49980400-49997400	Weak transcription	HepG2	liver
26	chr3:49980400-50003600	Weak transcription	Brain Angular Gyrus	brain
27	chr3:49980600-49999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:49980600-50000000	Weak transcription	Dnd41	blood
29	chr3:49980600-50001800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:49981400-49999800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:49981600-49999600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:49981800-49990000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:49983800-49997600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:49983800-49999200	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:49983800-50003400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:49984000-49998200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:49984000-50000400	Weak transcription	Fetal Intestine Large	intestine
38	chr3:49984200-49990200	Weak transcription	Fetal Stomach	stomach
39	chr3:49984200-49994800	Weak transcription	Liver	Liver
40	chr3:49984200-49998400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:49985400-49994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:49985600-50000600	Weak transcription	Primary B cells from cord blood	blood
43	chr3:49985800-49989800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:49986000-50000600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:49987000-49991800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr3:49987000-49997400	Weak transcription	Right Atrium	heart
47	chr3:49987600-49997800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:49987800-49990000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:49987800-49997400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr3:49988000-49997200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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