Variant report

Variant	rs184088417
Chromosome Location	chr6:5035264-5035265
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5034722..5036344-chr6:5039366..5041126,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers 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 target site	13 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	esv3407355	chr6:5034778-5037326	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	esv3446130	chr6:5034953-5037401	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5027000-5036400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:5027200-5047200	Weak transcription	Adipose Nuclei	Adipose
3	chr6:5031200-5042800	Weak transcription	Ovary	ovary
4	chr6:5031400-5036400	Weak transcription	K562	blood
5	chr6:5031600-5042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:5031800-5043800	Weak transcription	Spleen	Spleen
7	chr6:5032600-5035400	Enhancers	HepG2	liver
8	chr6:5032800-5037200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:5033000-5035800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:5033000-5035800	Enhancers	Placenta	Placenta
11	chr6:5033000-5036000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:5033400-5035800	Enhancers	NHEK	skin
13	chr6:5033400-5036400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:5033400-5036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:5033400-5036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:5033400-5036800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:5033400-5046000	Weak transcription	Fetal Intestine Small	intestine
18	chr6:5033400-5048600	Weak transcription	Aorta	Aorta
19	chr6:5033600-5035800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:5033600-5036000	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:5033800-5035800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:5033800-5036400	Weak transcription	A549	lung
23	chr6:5034200-5035400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:5034200-5035400	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:5034200-5035400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:5034200-5035400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:5034200-5035600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:5034200-5035600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:5034200-5036000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:5034200-5036400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:5034400-5045200	Weak transcription	Fetal Stomach	stomach
32	chr6:5034600-5035400	Enhancers	Fetal Thymus	thymus
33	chr6:5034600-5035600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:5034800-5035600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr6:5034800-5035600	Weak transcription	Osteobl	bone
36	chr6:5034800-5035800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:5034800-5036400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:5034800-5036600	Weak transcription	Fetal Lung	lung
39	chr6:5034800-5045600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:5034800-5047400	Weak transcription	Esophagus	oesophagus
41	chr6:5035000-5036600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:5035000-5036600	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:5035000-5037600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:5035000-5047400	Weak transcription	Primary B cells from cord blood	blood
45	chr6:5035200-5035400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:5035200-5035400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:5035200-5035800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:5035200-5035800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:5035200-5036200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:5035200-5036400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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