Variant report

Variant	rs1911750
Chromosome Location	chr7:50108120-50108121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1351692	0.85[ASN][1000 genomes]
rs1379174	0.83[AMR][1000 genomes]
rs1379175	0.83[AMR][1000 genomes]
rs1508412	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911748	0.93[ASN][1000 genomes]
rs1911749	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1911757	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1911758	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2174929	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2202772	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2221657	0.85[AMR][1000 genomes]
rs2247539	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247628	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366027	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2366028	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2366029	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2886552	0.85[ASN][1000 genomes]
rs3807323	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3807324	0.85[AMR][1000 genomes]
rs3823541	0.85[AMR][1000 genomes]
rs4019793	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4917107	0.83[ASN][1000 genomes]
rs4917109	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4917110	0.93[ASN][1000 genomes]
rs4917111	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4917112	0.85[AMR][1000 genomes]
rs6583423	0.85[AMR][1000 genomes]
rs6583426	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6944215	0.85[ASN][1000 genomes]
rs6956098	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv830997	chr7:49970866-50136498	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv830998	chr7:50103183-50156564	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50106800-50108400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:50107200-50108200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:50107200-50108200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:50107200-50108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:50107200-50108200	Enhancers	Aorta	Aorta
6	chr7:50107200-50108200	Enhancers	Fetal Stomach	stomach
7	chr7:50107200-50108400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:50107200-50108400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:50107200-50108400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:50107200-50108400	Enhancers	Fetal Intestine Small	intestine
11	chr7:50107200-50108400	Enhancers	Fetal Thymus	thymus
12	chr7:50107200-50108400	Enhancers	Small Intestine	intestine
13	chr7:50107200-50108600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:50107400-50108400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:50107400-50108400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:50107400-50108400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:50107400-50108400	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:50107400-50108400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:50107400-50108400	Enhancers	Dnd41	blood
20	chr7:50107400-50108600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:50107400-50108600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:50107400-50108600	Enhancers	Fetal Intestine Large	intestine
23	chr7:50107400-50108600	Enhancers	Fetal Lung	lung
24	chr7:50107400-50109200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:50107600-50108200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:50107600-50108200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:50107600-50108200	Enhancers	NH-A	brain
28	chr7:50107600-50108400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:50107600-50109400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:50107600-50109800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:50107600-50109800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr7:50107800-50108200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:50107800-50108200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:50107800-50108200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:50107800-50108200	Enhancers	Brain Germinal Matrix	brain
36	chr7:50107800-50108200	Enhancers	Fetal Muscle Leg	muscle
37	chr7:50107800-50108200	Enhancers	NHDF-Ad	bronchial
38	chr7:50107800-50108400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:50107800-50108400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr7:50107800-50108400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:50107800-50108400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:50107800-50108400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:50107800-50108400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr7:50107800-50108400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr7:50107800-50108400	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr7:50107800-50108400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr7:50107800-50108400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr7:50107800-50108400	Enhancers	Left Ventricle	heart
49	chr7:50107800-50108400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:50107800-50108400	Flanking Active TSS	Rectal Smooth Muscle	rectum

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