Variant report

Variant	rs10194503
Chromosome Location	chr2:38920482-38920483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38830892..38832834-chr2:38919143..38921497,2	K562	blood:
2	chr2:38915899..38920812-chr2:38977039..38979793,4	K562	blood:
3	chr2:38823862..38826061-chr2:38919360..38922289,2	K562	blood:
4	chr2:38909532..38914838-chr2:38917160..38922190,4	K562	blood:
5	chr2:38872329..38875260-chr2:38918256..38921155,2	K562	blood:
6	chr2:38914950..38917916-chr2:38919871..38923223,3	K562	blood:
7	chr2:38917976..38920812-chr2:38977039..38979793,2	K562	blood:
8	chr2:38920104..38923601-chr2:38924114..38926921,3	K562	blood:
9	chr2:38876173..38878521-chr2:38919650..38921533,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10180775	0.93[AFR][1000 genomes]
rs10197738	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13382974	0.98[AFR][1000 genomes]
rs13396461	0.90[AFR][1000 genomes]
rs13399254	0.98[AFR][1000 genomes]
rs13420732	0.98[AFR][1000 genomes]
rs17023045	0.95[AFR][1000 genomes]
rs28499207	0.98[AFR][1000 genomes]
rs6752602	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7590813	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873883	chr2:38881106-38932777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:38898600-38921200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:38903600-38923800	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:38904800-38936000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:38905000-38935800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:38905000-38947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:38905200-38925400	Weak transcription	Small Intestine	intestine
9	chr2:38909200-38921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:38909200-38947800	Weak transcription	Right Ventricle	heart
11	chr2:38909400-38921200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:38909400-38921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:38909600-38947800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:38909800-38938600	Weak transcription	Fetal Kidney	kidney
16	chr2:38910000-38948000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:38911600-38920600	Strong transcription	Thymus	Thymus
18	chr2:38912600-38920800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:38912600-38921000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:38912600-38932000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:38912800-38924200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:38913800-38938800	Weak transcription	Fetal Brain Male	brain
23	chr2:38914400-38930000	Weak transcription	Left Ventricle	heart
24	chr2:38914600-38921200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:38914600-38922800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:38914600-38935600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:38914600-38938600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:38914600-38948000	Weak transcription	Spleen	Spleen
29	chr2:38915800-38947200	Weak transcription	Ovary	ovary
30	chr2:38916200-38921200	Genic enhancers	HepG2	liver
31	chr2:38916600-38932600	Weak transcription	Lung	lung
32	chr2:38916800-38921200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:38916800-38923000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:38916800-38938800	Weak transcription	Fetal Lung	lung
35	chr2:38917000-38921000	Enhancers	HMEC	breast
36	chr2:38917000-38921400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:38917000-38921800	Strong transcription	Liver	Liver
38	chr2:38917000-38923600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:38917000-38927800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:38917200-38922800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:38917200-38924600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:38917200-38936400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:38917400-38920800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:38917600-38920600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:38917600-38921000	Enhancers	NHEK	skin
46	chr2:38917800-38921000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
48	chr2:38918200-38921000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:38918400-38920800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:38918400-38921600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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