Variant report

Variant	rs36118923
Chromosome Location	chr6:4924473-4924474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4923127..4925328-chr6:4925522..4928409,2	K562	blood:
2	chr6:4919261..4921849-chr6:4923274..4924943,2	K562	blood:
3	chr6:4920596..4923102-chr6:4923996..4926208,2	MCF-7	breast:
4	chr6:4914506..4916957-chr6:4923942..4927545,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13195561	0.87[EUR][1000 genomes]
rs13201127	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13202215	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13211524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17138989	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34040930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34172189	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34200379	0.84[AFR][1000 genomes]
rs35163582	0.90[EUR][1000 genomes]
rs35543649	0.93[EUR][1000 genomes]
rs36015134	0.93[EUR][1000 genomes]
rs71555875	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4905800-4931200	Weak transcription	HepG2	liver
2	chr6:4907600-4925200	Weak transcription	Fetal Heart	heart
3	chr6:4908000-4935600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:4908200-4934800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:4911000-4930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:4911000-4935200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:4912800-4931200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:4913200-4936000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:4913200-4941000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:4913600-4938000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:4914000-4930600	Weak transcription	A549	lung
12	chr6:4914800-4924600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:4914800-4930400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:4914800-4930400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:4915000-4929800	Weak transcription	Hela-S3	cervix
16	chr6:4915200-4925000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:4915200-4931600	Weak transcription	Esophagus	oesophagus
18	chr6:4915400-4927000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:4915400-4927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:4915400-4928600	Weak transcription	HMEC	breast
21	chr6:4915400-4930200	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:4915400-4930600	Weak transcription	Gastric	stomach
23	chr6:4915400-4931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:4915400-4931800	Weak transcription	Pancreas	Pancrea
25	chr6:4915600-4931200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:4915600-4931200	Weak transcription	NHEK	skin
27	chr6:4915800-4928200	Weak transcription	HSMMtube	muscle
28	chr6:4915800-4928400	Weak transcription	NH-A	brain
29	chr6:4915800-4928400	Weak transcription	Osteobl	bone
30	chr6:4915800-4930000	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:4915800-4930400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:4915800-4930600	Weak transcription	Placenta	Placenta
33	chr6:4915800-4931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:4915800-4942400	Weak transcription	Aorta	Aorta
35	chr6:4916000-4925000	Weak transcription	Fetal Kidney	kidney
36	chr6:4916200-4929200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:4916200-4933200	Weak transcription	Fetal Stomach	stomach
38	chr6:4916600-4935400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:4917000-4930400	Weak transcription	Small Intestine	intestine
40	chr6:4917000-4931400	Weak transcription	Fetal Intestine Small	intestine
41	chr6:4917200-4930400	Weak transcription	Right Ventricle	heart
42	chr6:4917200-4935000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr6:4917800-4930400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:4918000-4936000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:4918200-4930200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:4921200-4928800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:4921200-4931600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:4921400-4928000	Weak transcription	K562	blood
49	chr6:4921600-4924600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:4922400-4924600	Weak transcription	GM12878-XiMat	blood

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