Variant report

Variant	rs9368897
Chromosome Location	chr6:35992332-35992333
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	TEAD4	chr6:35992054-35992577	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr6:35991758-35992651	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZEB1	chr6:35992123-35992411	GM12878	blood:	n/a	chr6:35992274-35992283
4	TAF1	chr6:35992040-35992422	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:35992161-35992557	H1-hESC	embryonic stem cell:	n/a	n/a
6	ELF1	chr6:35992034-35992572	GM12878	blood:	n/a	n/a
7	CTCF	chr6:35992220-35992370	GM12871	blood:	n/a	n/a
8	BACH1	chr6:35992313-35992513	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr6:35992328-35992492	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr6:35992196-35992401	GM12878	blood:	n/a	chr6:35992290-35992304
11	EGR1	chr6:35992054-35992495	H1-hESC	embryonic stem cell:	n/a	chr6:35992290-35992304
12	HMGN3	chr6:35992130-35992457	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35958044..35960886-chr6:35991621..35993771,2	K562	blood:
2	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:

Variant related genes	Relation type
MAPK14	TF binding region
SLC26A8	TF binding region
ENSG00000271304	Chromatin interaction
ENSG00000237719	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1100861	0.88[ASN][1000 genomes]
rs1100862	0.88[ASN][1000 genomes]
rs1100863	0.88[ASN][1000 genomes]
rs851027	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs851029	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs851030	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs851031	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs851032	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs851033	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs851034	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs851035	0.88[ASN][1000 genomes]
rs851037	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs851039	0.87[ASN][1000 genomes]
rs9380542	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv528432	chr6:35958871-36035354	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35991600-35992600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr6:35991600-35992800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:35991600-35992800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:35991600-35992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:35991600-35992800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:35991600-35993400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr6:35991800-35992400	Enhancers	Placenta	Placenta
8	chr6:35991800-35992400	Enhancers	Right Atrium	heart
9	chr6:35991800-35992600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:35991800-35992600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:35991800-35992600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:35991800-35992600	Active TSS	Brain Angular Gyrus	brain
13	chr6:35991800-35992600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr6:35991800-35992800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:35991800-35992800	Active TSS	Brain Anterior Caudate	brain
16	chr6:35991800-35992800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr6:35992000-35992400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:35992000-35992400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:35992000-35992400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
20	chr6:35992000-35992400	Enhancers	Primary T cells from cord blood	blood
21	chr6:35992000-35992400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:35992000-35992400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:35992000-35992400	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:35992000-35992400	Enhancers	Esophagus	oesophagus
25	chr6:35992000-35992400	Enhancers	Lung	lung
26	chr6:35992000-35992400	Flanking Active TSS	HMEC	breast
27	chr6:35992000-35992400	Bivalent/Poised TSS	NH-A	brain
28	chr6:35992000-35992400	Enhancers	NHEK	skin
29	chr6:35992000-35992600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:35992000-35992600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:35992000-35992600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:35992000-35992600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:35992000-35992600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr6:35992000-35992600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr6:35992000-35992600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:35992000-35992600	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr6:35992000-35992600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr6:35992000-35992600	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr6:35992000-35992600	Enhancers	Gastric	stomach
40	chr6:35992000-35992600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
41	chr6:35992000-35992800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr6:35992000-35992800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:35992000-35992800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:35992000-35992800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr6:35992000-35992800	Enhancers	GM12878-XiMat	blood
46	chr6:35992000-35994800	Enhancers	NHLF	lung
47	chr6:35992200-35992400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:35992200-35992400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr6:35992200-35992400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:35992200-35992400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood

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