Variant report

Variant	rs947154
Chromosome Location	chr6:4941853-4941854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4936581..4938828-chr6:4939239..4942191,2	MCF-7	breast:
2	chr6:4921448..4923447-chr6:4939965..4942220,2	MCF-7	breast:
3	chr6:4929125..4930860-chr6:4939699..4942509,2	MCF-7	breast:
4	chr6:4937204..4938732-chr6:4940412..4941968,2	K562	blood:
5	chr6:4934856..4938294-chr6:4940217..4942355,4	K562	blood:
6	chr6:4941823..4943609-chr6:4950244..4952540,2	K562	blood:
7	chr6:4910812..4914843-chr6:4941704..4944145,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3789795	0.97[ASN][1000 genomes]
rs3789798	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3789801	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6597099	0.95[ASN][1000 genomes]
rs947155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4915800-4942400	Weak transcription	Aorta	Aorta
2	chr6:4932000-4942000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:4932200-4945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:4932400-4942000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:4932400-4942400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:4932600-4942200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:4932600-4944200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:4932600-4944600	Weak transcription	Colonic Mucosa	Colon
9	chr6:4932800-4944400	Weak transcription	Thymus	Thymus
10	chr6:4933000-4942200	Weak transcription	Fetal Intestine Large	intestine
11	chr6:4933000-4944400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:4933400-4942000	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:4933400-4944600	Weak transcription	Pancreas	Pancrea
14	chr6:4933600-4942400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:4933600-4950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:4933800-4944400	Weak transcription	Gastric	stomach
17	chr6:4934200-4943000	Weak transcription	Right Atrium	heart
18	chr6:4936000-4942200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:4936200-4942400	Weak transcription	Lung	lung
20	chr6:4936400-4942400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:4936400-4942400	Weak transcription	Esophagus	oesophagus
22	chr6:4936400-4943000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:4936400-4943200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:4936400-4943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:4936400-4944600	Weak transcription	Liver	Liver
26	chr6:4936600-4942400	Weak transcription	Fetal Thymus	thymus
27	chr6:4936800-4942400	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:4937000-4942000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:4937000-4942400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:4937000-4943000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:4937000-4944600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:4937200-4942200	Weak transcription	Stomach Mucosa	stomach
33	chr6:4937400-4942000	Weak transcription	Fetal Heart	heart
34	chr6:4937400-4942000	Weak transcription	HUVEC	blood vessel
35	chr6:4937400-4942400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:4937400-4944800	Weak transcription	Brain Germinal Matrix	brain
37	chr6:4938000-4956400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:4938200-4942400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:4938400-4942200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:4938400-4942400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:4938400-4944000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:4938800-4942200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:4938800-4942200	Weak transcription	Adipose Nuclei	Adipose
44	chr6:4939000-4943600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:4939400-4942000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:4939400-4942000	Strong transcription	Fetal Intestine Small	intestine
47	chr6:4939400-4943400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:4939800-4942000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:4939800-4944600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:4940000-4943200	Enhancers	Cortex derived primary cultured neurospheres	brain

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