Variant report

Variant	rs62154921
Chromosome Location	chr2:98779439-98779440
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98766384..98769751-chr2:98776231..98780220,5	K562	blood:
2	chr2:98773639..98775254-chr2:98778952..98780537,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62154868	0.87[EUR][1000 genomes]
rs62154883	1.00[AFR][1000 genomes]
rs62155350	1.00[AFR][1000 genomes]
rs72817745	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834309	chr2:98643304-98793838	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv527817	chr2:98701043-98791433	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1014962	chr2:98704622-98795737	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv999736	chr2:98706669-98811075	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98764400-98780400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:98770800-98782800	Enhancers	Fetal Muscle Leg	muscle
3	chr2:98772200-98790600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:98774000-98780800	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:98774000-98781000	Enhancers	HSMMtube	muscle
6	chr2:98775000-98782200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:98776400-98780600	Enhancers	Fetal Thymus	thymus
8	chr2:98776800-98779600	Enhancers	HSMM	muscle
9	chr2:98776800-98780600	Enhancers	Left Ventricle	heart
10	chr2:98777400-98780000	Enhancers	Right Atrium	heart
11	chr2:98777600-98780600	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:98777600-98780800	Enhancers	Psoas Muscle	Psoas
13	chr2:98778000-98780400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:98778200-98781800	Enhancers	HMEC	breast
15	chr2:98778400-98780800	Enhancers	Fetal Stomach	stomach
16	chr2:98778600-98779600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:98778600-98779600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:98778600-98779600	Enhancers	Colon Smooth Muscle	Colon
19	chr2:98778600-98779600	Enhancers	Osteobl	bone
20	chr2:98778600-98779800	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:98778600-98782200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:98778800-98779600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:98778800-98779600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:98778800-98779600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:98778800-98779600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:98778800-98779600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:98778800-98779600	Enhancers	Fetal Lung	lung
28	chr2:98778800-98779600	Enhancers	NH-A	brain
29	chr2:98778800-98779600	Enhancers	NHDF-Ad	bronchial
30	chr2:98778800-98779600	Flanking Active TSS	NHEK	skin
31	chr2:98778800-98779600	Enhancers	NHLF	lung
32	chr2:98778800-98779800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:98778800-98779800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:98778800-98779800	Enhancers	Adipose Nuclei	Adipose
35	chr2:98778800-98779800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:98778800-98780400	Enhancers	Ovary	ovary
37	chr2:98778800-98781000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:98778800-98781200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:98779000-98779600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:98779000-98779600	Enhancers	Brain Substantia Nigra	brain
41	chr2:98779000-98779800	Enhancers	Fetal Brain Male	brain
42	chr2:98779200-98779600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:98779200-98780600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:98779200-98781800	Enhancers	Placenta	Placenta
45	chr2:98779400-98779600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:98779400-98779800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr2:98779400-98780600	Enhancers	Esophagus	oesophagus
48	chr2:98779400-98780600	Enhancers	Right Ventricle	heart
49	chr2:98779400-98782000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links