Variant report

Variant	rs1504367
Chromosome Location	chr6:80340241-80340242
allele	A/G
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	FOXA1	chr6:80340079-80340891	HepG2	liver:	n/a	n/a
2	FOXA1	chr6:80340130-80340979	HepG2	liver:	n/a	n/a
3	FOXA1	chr6:80339903-80340938	HepG2	liver:	n/a	n/a
4	REST	chr6:80340181-80342024	H1-neurons	neurons:	n/a	chr6:80340572-80340585 chr6:80340968-80340981 chr6:80340904-80340917
5	FOXA2	chr6:80340167-80340883	HepG2	liver:	n/a	n/a
6	HDAC2	chr6:80340094-80341254	HepG2	liver:	n/a	chr6:80340399-80340413
7	FOXA1	chr6:80339984-80340391	HepG2	liver:	n/a	n/a
8	TEAD4	chr6:80339982-80340947	HepG2	liver:	n/a	chr6:80340248-80340257

Variant related genes	Relation type
SH3BGRL2	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62413425	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67970395	1.00[ASN][1000 genomes]
rs6927296	1.00[ASN][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv886304	chr6:80294265-80355973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80315000-80340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:80322800-80340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:80333400-80340400	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:80338000-80340400	Weak transcription	Colonic Mucosa	Colon
5	chr6:80339000-80341000	Weak transcription	Small Intestine	intestine
6	chr6:80339200-80340600	Weak transcription	Gastric	stomach
7	chr6:80339200-80340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:80339400-80340400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:80339800-80340400	Weak transcription	Esophagus	oesophagus
10	chr6:80340000-80340400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:80340000-80340400	Enhancers	Placenta	Placenta
12	chr6:80340000-80340400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:80340000-80340800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:80340000-80340800	Flanking Active TSS	Liver	Liver
15	chr6:80340000-80342000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:80340200-80340400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:80340200-80340400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:80340200-80340400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:80340200-80340400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr6:80340200-80340400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr6:80340200-80340400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr6:80340200-80340400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr6:80340200-80340400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
24	chr6:80340200-80340400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr6:80340200-80340400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:80340200-80340400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:80340200-80340400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr6:80340200-80340400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:80340200-80340400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:80340200-80340400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:80340200-80340400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:80340200-80340400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:80340200-80340400	Enhancers	Adipose Nuclei	Adipose
34	chr6:80340200-80340400	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:80340200-80340400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr6:80340200-80340400	Enhancers	Fetal Intestine Large	intestine
37	chr6:80340200-80340400	Enhancers	Fetal Intestine Small	intestine
38	chr6:80340200-80340400	Enhancers	Fetal Kidney	kidney
39	chr6:80340200-80340400	Active TSS	Fetal Stomach	stomach
40	chr6:80340200-80340400	Active TSS	Pancreas	Pancrea
41	chr6:80340200-80340400	Enhancers	Stomach Mucosa	stomach
42	chr6:80340200-80340400	Enhancers	Stomach Smooth Muscle	stomach
43	chr6:80340200-80340400	Enhancers	HMEC	breast
44	chr6:80340200-80340400	Enhancers	HUVEC	blood vessel
45	chr6:80340200-80340400	Enhancers	K562	blood
46	chr6:80340200-80340400	Enhancers	NHEK	skin
47	chr6:80340200-80340600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr6:80340200-80340600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr6:80340200-80340600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:80340200-80340600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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