Variant report

Variant	rs6799248
Chromosome Location	chr3:42556854-42556855
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42556101..42557803-chr3:42559500..42561568,2	K562	blood:
2	chr3:42555090..42557381-chr3:42567941..42570291,2	MCF-7	breast:
3	chr3:42543941..42547920-chr3:42554474..42558044,4	K562	blood:

Variant related genes	Relation type
ENSG00000114812	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6797853	1.00[EUR][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	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv527430	chr3:42534042-42557199	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1814102	chr3:42539966-42582403	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3439679	chr3:42555248-42559546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42547200-42561800	Genic enhancers	Fetal Intestine Small	intestine
2	chr3:42547600-42579000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:42549200-42561800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:42549800-42557000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:42549800-42560600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:42550000-42560400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:42550200-42558200	Enhancers	Right Ventricle	heart
8	chr3:42550600-42558800	Enhancers	Right Atrium	heart
9	chr3:42551200-42559200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:42551400-42558800	Enhancers	Left Ventricle	heart
11	chr3:42552200-42581000	Weak transcription	Pancreas	Pancrea
12	chr3:42552400-42558400	Genic enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:42552400-42570000	Weak transcription	Fetal Stomach	stomach
14	chr3:42553200-42560800	Weak transcription	Small Intestine	intestine
15	chr3:42553600-42557000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:42553600-42557000	Weak transcription	Liver	Liver
17	chr3:42553600-42559000	Genic enhancers	Lung	lung
18	chr3:42553600-42566600	Weak transcription	Primary B cells from cord blood	blood
19	chr3:42553800-42560400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:42554000-42557800	Weak transcription	Placenta	Placenta
21	chr3:42554000-42559000	Strong transcription	Primary T cells from cord blood	blood
22	chr3:42554000-42560200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:42554400-42558600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:42554600-42559000	Enhancers	Stomach Mucosa	stomach
25	chr3:42554800-42559200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:42555000-42557400	Weak transcription	Adipose Nuclei	Adipose
27	chr3:42555400-42557000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:42555600-42557600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:42555600-42559200	Enhancers	Fetal Heart	heart
30	chr3:42555800-42557000	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr3:42555800-42557000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:42555800-42557000	Enhancers	NHEK	skin
33	chr3:42555800-42559200	Enhancers	Esophagus	oesophagus
34	chr3:42555800-42560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:42556000-42557000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:42556000-42557400	Enhancers	Brain Anterior Caudate	brain
37	chr3:42556000-42558000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:42556000-42558200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:42556200-42557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:42556200-42557600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:42556200-42557600	Enhancers	Brain Cingulate Gyrus	brain
42	chr3:42556200-42557800	Enhancers	Brain Substantia Nigra	brain
43	chr3:42556200-42557800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr3:42556200-42558000	Enhancers	Brain Hippocampus Middle	brain
45	chr3:42556200-42558400	Genic enhancers	Spleen	Spleen
46	chr3:42556200-42559000	Genic enhancers	Fetal Intestine Large	intestine
47	chr3:42556400-42557200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:42556400-42557600	Enhancers	Brain Angular Gyrus	brain
49	chr3:42556400-42557800	Enhancers	Aorta	Aorta
50	chr3:42556400-42558000	Enhancers	Skeletal Muscle Female	skeletal muscle

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