Variant report

Variant	rs547996305
Chromosome Location	chr6:5132661-5132662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5127863..5130262-chr6:5130586..5132719,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer 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 miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1017821	chr6:5114609-5213200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
12	nsv538114	chr6:5114609-5213200	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
13	nsv5179	chr6:5121824-5167027	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5103200-5132800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:5124800-5133200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:5125000-5133200	Weak transcription	Right Ventricle	heart
4	chr6:5126600-5133200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:5126600-5134000	Weak transcription	NHEK	skin
6	chr6:5126800-5132800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:5128800-5136200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:5129000-5136800	Weak transcription	Primary T cells from cord blood	blood
9	chr6:5129000-5162000	Weak transcription	K562	blood
10	chr6:5129800-5138000	Weak transcription	HepG2	liver
11	chr6:5130600-5132800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:5130600-5132800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:5130600-5140400	Weak transcription	Gastric	stomach
14	chr6:5130600-5172200	Weak transcription	Lung	lung
15	chr6:5130800-5132800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:5130800-5132800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:5130800-5132800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:5130800-5132800	Weak transcription	Left Ventricle	heart
19	chr6:5130800-5133200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:5130800-5133200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:5130800-5139400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:5130800-5142400	Weak transcription	Fetal Intestine Small	intestine
23	chr6:5131000-5133000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:5131000-5143000	Weak transcription	Spleen	Spleen
25	chr6:5131400-5133800	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:5131600-5133800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:5131800-5133000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:5131800-5133400	Enhancers	Brain Angular Gyrus	brain
29	chr6:5131800-5134400	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:5131800-5135200	Weak transcription	Placenta	Placenta
31	chr6:5132000-5132800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr6:5132000-5133200	Flanking Active TSS	Fetal Kidney	kidney
33	chr6:5132000-5133400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:5132000-5133400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:5132000-5133600	Enhancers	Fetal Stomach	stomach
36	chr6:5132000-5133800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:5132000-5133800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr6:5132000-5134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:5132000-5139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:5132200-5132800	Enhancers	Ovary	ovary
41	chr6:5132200-5132800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:5132200-5132800	Enhancers	NHDF-Ad	bronchial
43	chr6:5132200-5133000	Flanking Active TSS	Fetal Lung	lung
44	chr6:5132200-5133600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:5132200-5133600	Active TSS	Right Atrium	heart
46	chr6:5132200-5133800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:5132200-5134400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:5132200-5134400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:5132400-5132800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:5132400-5132800	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links