Variant report

Variant	rs373081
Chromosome Location	chr1:120571397-120571398
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61787015	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking 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	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120533400-120575000	Weak transcription	NHEK	skin
2	chr1:120533400-120578200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:120544400-120575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:120545800-120578200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:120548200-120579800	Weak transcription	Spleen	Spleen
6	chr1:120556000-120573800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:120558400-120572000	Weak transcription	Fetal Thymus	thymus
8	chr1:120558400-120574000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:120558400-120578600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:120558600-120574200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:120558800-120579400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:120559400-120579400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:120560000-120573800	Weak transcription	Pancreas	Pancrea
14	chr1:120560000-120574000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:120560000-120579400	Weak transcription	NH-A	brain
16	chr1:120560200-120577800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:120560200-120577800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:120560200-120578200	Weak transcription	Ovary	ovary
19	chr1:120561600-120574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:120562000-120578200	Weak transcription	HSMMtube	muscle
21	chr1:120562200-120577400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:120563600-120577800	Weak transcription	Fetal Heart	heart
23	chr1:120564000-120572600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:120564000-120572600	Weak transcription	NHDF-Ad	bronchial
25	chr1:120564000-120573800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:120564000-120579200	Weak transcription	NHLF	lung
27	chr1:120564000-120579400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:120564000-120579400	Weak transcription	Fetal Kidney	kidney
29	chr1:120564000-120610800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:120566400-120572800	Weak transcription	Hela-S3	cervix
31	chr1:120566800-120579200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:120567000-120573800	Weak transcription	HMEC	breast
33	chr1:120567000-120574200	Weak transcription	Esophagus	oesophagus
34	chr1:120567000-120574800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:120567000-120580200	Weak transcription	Colonic Mucosa	Colon
36	chr1:120567200-120573800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:120567200-120575200	Weak transcription	Aorta	Aorta
38	chr1:120567200-120578200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:120567200-120579200	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:120567600-120573400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:120567600-120573800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:120567600-120573800	Weak transcription	Fetal Intestine Small	intestine
43	chr1:120567600-120573800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:120567600-120573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:120567600-120574000	Weak transcription	Fetal Intestine Large	intestine
46	chr1:120567600-120575000	Weak transcription	A549	lung
47	chr1:120567600-120578200	Weak transcription	Thymus	Thymus
48	chr1:120567600-120578400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:120567600-120604200	Weak transcription	Primary T cells from cord blood	blood
50	chr1:120567600-120608600	Weak transcription	Dnd41	blood

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