Variant report

Variant	rs530244885
Chromosome Location	chr6:53924788-53924789
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5307	chr6:53874118-53952230	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1027036	chr6:53912335-53931843	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv7901	chr6:53914491-53981080	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv823691	chr6:53918427-53978766	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1825401	chr6:53920024-53934260	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
13	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1030908	chr6:53920595-53931843	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
15	esv3473991	chr6:53924671-53934931	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
16	nsv1025090	chr6:53924697-53936000	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
17	nsv436993	chr6:53924697-53937823	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
18	nsv436994	chr6:53924697-53937823	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
19	esv34853	chr6:53924697-53977449	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv3491455	chr6:53924708-53934936	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
21	esv3427373	chr6:53924712-53934924	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
22	esv5367	chr6:53924718-53934901	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
23	esv3473993	chr6:53924727-53934903	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
24	esv3473990	chr6:53924731-53934901	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
25	esv3491457	chr6:53924745-53934878	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
26	esv3491456	chr6:53924747-53934875	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
27	esv3473992	chr6:53924789-53934834	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53913600-53926000	Weak transcription	Left Ventricle	heart
2	chr6:53918800-53925200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:53919400-53928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:53919600-53928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:53919600-53928400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:53919600-53928400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:53919800-53925000	Weak transcription	HSMM	muscle
8	chr6:53921400-53926000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:53921600-53936600	Weak transcription	Right Ventricle	heart
10	chr6:53922200-53928000	Weak transcription	Adipose Nuclei	Adipose
11	chr6:53923800-53927600	Enhancers	Fetal Heart	heart
12	chr6:53924000-53924800	Enhancers	Colon Smooth Muscle	Colon
13	chr6:53924000-53925400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:53924000-53935200	Weak transcription	Psoas Muscle	Psoas
15	chr6:53924200-53925200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr6:53924200-53925400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:53924200-53925800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:53924200-53926000	Weak transcription	Small Intestine	intestine
19	chr6:53924400-53924800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:53924400-53924800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:53924400-53925000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:53924400-53925000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:53924400-53925000	Flanking Active TSS	HUVEC	blood vessel
24	chr6:53924600-53925000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:53924600-53925000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:53924600-53925000	Active TSS	Right Atrium	heart
27	chr6:53924600-53925000	Active TSS	Stomach Mucosa	stomach
28	chr6:53924600-53925000	Active TSS	NHDF-Ad	bronchial
29	chr6:53924600-53925000	Flanking Active TSS	NHLF	lung
30	chr6:53924600-53925000	Flanking Active TSS	Osteobl	bone
31	chr6:53924600-53925200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:53924600-53925400	Enhancers	Fetal Lung	lung
33	chr6:53924600-53925400	Enhancers	Hela-S3	cervix
34	chr6:53924600-53925800	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links