Variant report

Variant	rs57529939
Chromosome Location	chr6:30591004-30591005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30590002-30591105	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30590937..30593693-chr6:30609375..30612097,3	MCF-7	breast:
2	chr6:30590782..30598373-chr6:30685661..30690473,13	MCF-7	breast:

Variant related genes	Relation type
PPP1R10	TF binding region
ATAT1	TF binding region
ENSG00000137337	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000137343	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17189357	1.00[ASN][1000 genomes]
rs28986467	1.00[ASN][1000 genomes]
rs61059475	1.00[ASN][1000 genomes]
rs61414974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927597	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927603	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6931296	1.00[ASN][1000 genomes]
rs73422044	1.00[ASN][1000 genomes]
rs73422050	1.00[ASN][1000 genomes]
rs73433105	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433149	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747973	1.00[ASN][1000 genomes]
rs7751766	1.00[EUR][1000 genomes]
rs7757145	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30586400-30592000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:30586400-30592600	Weak transcription	Aorta	Aorta
3	chr6:30586400-30594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:30586400-30594600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:30586600-30594400	Weak transcription	Right Atrium	heart
6	chr6:30586600-30594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:30586800-30594400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:30587000-30591400	Strong transcription	NHDF-Ad	bronchial
9	chr6:30587000-30593600	Strong transcription	Fetal Muscle Leg	muscle
10	chr6:30587000-30594000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:30587000-30594000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:30587000-30594000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:30587000-30594000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:30587000-30594000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:30587000-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:30587000-30594200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:30587000-30594200	Strong transcription	Osteobl	bone
18	chr6:30587000-30594400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:30587200-30592400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:30587200-30593400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:30587200-30593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:30587200-30593800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr6:30587200-30593800	Strong transcription	HSMMtube	muscle
24	chr6:30587200-30594000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:30587200-30594000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:30587200-30594000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:30587200-30594000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:30587200-30594000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:30587200-30594000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:30587200-30594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:30587200-30594000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:30587200-30594000	Strong transcription	Brain Angular Gyrus	brain
33	chr6:30587200-30594000	Strong transcription	Brain Anterior Caudate	brain
34	chr6:30587200-30594000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr6:30587200-30594000	Strong transcription	Brain Hippocampus Middle	brain
36	chr6:30587200-30594000	Strong transcription	Brain Substantia Nigra	brain
37	chr6:30587200-30594000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:30587200-30594000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr6:30587200-30594000	Strong transcription	Placenta	Placenta
40	chr6:30587200-30594000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr6:30587200-30594000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:30587200-30594200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:30587200-30594200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:30587200-30594200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:30587400-30591200	Strong transcription	Ovary	ovary
46	chr6:30587400-30593400	Strong transcription	K562	blood
47	chr6:30587400-30593600	Strong transcription	Fetal Intestine Small	intestine
48	chr6:30587400-30593600	Strong transcription	A549	lung
49	chr6:30587400-30593800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:30587400-30593800	Strong transcription	H1 Cell Line	embryonic stem cell

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