Variant report

Variant	rs1991789
Chromosome Location	chr3:194673626-194673627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73889994	1.00[AMR][1000 genomes]
rs938710	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948797	chr3:194232753-194789163	Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv519476	chr3:194366007-194693229	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1005802	chr3:194535087-194704790	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv536872	chr3:194535087-194704790	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
6	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
7	esv3463687	chr3:194614599-194739072	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3463688	chr3:194614599-194739072	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv18029	chr3:194615063-194738833	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv878134	chr3:194634168-194713365	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194667200-194674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:194671800-194674200	Enhancers	Adipose Nuclei	Adipose
3	chr3:194671800-194674800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr3:194672200-194674400	Enhancers	Spleen	Spleen
5	chr3:194672200-194675000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:194672400-194674800	Enhancers	Fetal Muscle Trunk	muscle
7	chr3:194672800-194675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:194672800-194675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:194672800-194675000	Enhancers	Fetal Intestine Small	intestine
10	chr3:194673000-194673800	Enhancers	Duodenum Mucosa	Duodenum
11	chr3:194673000-194673800	Enhancers	Ovary	ovary
12	chr3:194673000-194674000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr3:194673000-194674000	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:194673000-194674400	Enhancers	Fetal Stomach	stomach
15	chr3:194673000-194674400	Enhancers	Gastric	stomach
16	chr3:194673000-194674400	Enhancers	Right Atrium	heart
17	chr3:194673000-194674400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:194673000-194674800	Enhancers	Fetal Heart	heart
19	chr3:194673000-194674800	Enhancers	Lung	lung
20	chr3:194673000-194675000	Enhancers	Fetal Muscle Leg	muscle
21	chr3:194673000-194675000	Enhancers	Fetal Thymus	thymus
22	chr3:194673000-194675000	Enhancers	Left Ventricle	heart
23	chr3:194673000-194675000	Enhancers	Right Ventricle	heart
24	chr3:194673000-194675000	Enhancers	Stomach Mucosa	stomach
25	chr3:194673000-194675200	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:194673200-194673800	Enhancers	Brain Germinal Matrix	brain
27	chr3:194673200-194674000	Enhancers	Fetal Lung	lung
28	chr3:194673400-194674200	Enhancers	HUVEC	blood vessel
29	chr3:194673400-194674600	Bivalent Enhancer	HepG2	liver
30	chr3:194673400-194675000	Enhancers	Fetal Intestine Large	intestine
31	chr3:194673600-194674000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr3:194673600-194674200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr3:194673600-194674400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:194673600-194675000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:194673600-194675000	Enhancers	Placenta	Placenta

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