Variant report

Variant	rs2233818
Chromosome Location	chr3:139173538-139173539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139168645..139171256-chr3:139173067..139176313,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2289348	0.81[AFR][1000 genomes]
rs61680644	0.81[AFR][1000 genomes]
rs6771384	0.86[AFR][1000 genomes]
rs6795778	0.86[AFR][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	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1000519	chr3:139159300-139206245	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2752377	chr3:139163302-139188302	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139142800-139176800	Weak transcription	Fetal Stomach	stomach
2	chr3:139154200-139173600	Weak transcription	Ovary	ovary
3	chr3:139154200-139178600	Weak transcription	Left Ventricle	heart
4	chr3:139158600-139174800	Weak transcription	Adipose Nuclei	Adipose
5	chr3:139160200-139174800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:139160600-139174800	Weak transcription	Fetal Brain Male	brain
7	chr3:139163400-139189000	Weak transcription	Small Intestine	intestine
8	chr3:139163800-139180200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:139165800-139178600	Weak transcription	Right Ventricle	heart
10	chr3:139166000-139179000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:139167000-139175400	Weak transcription	Fetal Brain Female	brain
12	chr3:139167400-139174800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:139167400-139176000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:139168000-139175200	Weak transcription	Brain Angular Gyrus	brain
15	chr3:139168600-139196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:139169200-139175000	Genic enhancers	Fetal Intestine Small	intestine
17	chr3:139170800-139173600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:139170800-139174600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:139171200-139210200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:139171400-139174800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:139171400-139175800	Weak transcription	Brain Substantia Nigra	brain
22	chr3:139171400-139179400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:139171400-139179400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:139171800-139176000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:139171800-139176200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:139172000-139175600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:139172000-139176200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:139172000-139176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:139172200-139175400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:139172400-139173600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:139172400-139174000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:139172400-139175400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:139172400-139177000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:139172600-139174400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:139172600-139175200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:139173200-139173800	Enhancers	Fetal Muscle Leg	muscle
37	chr3:139173200-139174800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr3:139173400-139173600	Enhancers	HSMMtube	muscle
39	chr3:139173400-139173800	Enhancers	Pancreas	Pancrea
40	chr3:139173400-139175000	Enhancers	Brain Germinal Matrix	brain
41	chr3:139173400-139175600	Genic enhancers	Fetal Intestine Large	intestine

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