Variant report

Variant	rs9475792
Chromosome Location	chr6:57089942-57089943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr6:57089626-57090164	K562	blood:	n/a	n/a
2	MAZ	chr6:57089613-57090013	K562	blood:	n/a	n/a
3	CEBPB	chr6:57089639-57089964	IMR90	lung:	n/a	n/a
4	ZNF384	chr6:57089846-57090046	K562	blood:	n/a	n/a
5	EP300	chr6:57089625-57090025	K562	blood:	n/a	n/a
6	GATA3	chr6:57089449-57090099	SK-N-SH	brain:	n/a	n/a
7	MYC	chr6:57089726-57090003	K562	blood:	n/a	n/a
8	ARID3A	chr6:57089706-57089968	K562	blood:	n/a	n/a
9	CTCF	chr6:57089940-57090090	AoAF	blood vessel:	n/a	n/a
10	RCOR1	chr6:57089572-57090013	K562	blood:	n/a	n/a
11	GATA3	chr6:57089487-57090075	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr6:57089602-57090006	K562	blood:	n/a	n/a
13	ATF1	chr6:57089641-57090001	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:57035422..57037209-chr6:57089441..57091724,2	K562	blood:
2	chr6:57088654..57090338-chr6:57110671..57112919,2	MCF-7	breast:
3	chr6:57085891..57087980-chr6:57088425..57091105,2	MCF-7	breast:
4	chr6:57089755..57093412-chr6:57094314..57097096,3	K562	blood:
5	chr6:57084935..57087145-chr6:57089121..57091163,3	K562	blood:
6	chr6:57085083..57088609-chr6:57088640..57091754,5	K562	blood:
7	chr6:57089755..57092031-chr6:57095461..57097946,2	K562	blood:

No data

Variant related genes	Relation type
RAB23	TF binding region
ENSG00000112208	Chromatin interaction
ENSG00000112210	Chromatin interaction
ENSG00000226803	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9475939	1.00[MEX][hapmap]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57087600-57091400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:57087800-57090200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:57087800-57090400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:57087800-57091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:57088000-57090000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:57088000-57090800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:57088000-57091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:57088000-57091000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:57088000-57091400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:57088000-57091600	Enhancers	Colon Smooth Muscle	Colon
11	chr6:57088200-57091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:57088200-57091000	Weak transcription	NHEK	skin
13	chr6:57088200-57091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:57088200-57091400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:57088800-57090200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:57089000-57090200	Enhancers	K562	blood
17	chr6:57089200-57090000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:57089200-57090200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:57089200-57090200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:57089200-57090200	Enhancers	NHDF-Ad	bronchial
21	chr6:57089200-57090800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:57089200-57091200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:57089400-57090400	Enhancers	Osteobl	bone
24	chr6:57089400-57090600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:57089400-57090600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:57089400-57090800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:57089600-57090000	Enhancers	Fetal Kidney	kidney
28	chr6:57089600-57090200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:57089600-57090200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:57089600-57090200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:57089600-57090200	Enhancers	NH-A	brain
32	chr6:57089600-57090400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:57089600-57091000	Enhancers	Primary hematopoietic stem cells	blood
34	chr6:57089600-57091400	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:57089600-57091600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:57089800-57090000	Enhancers	Dnd41	blood
37	chr6:57089800-57090200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:57089800-57090200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:57089800-57090200	Enhancers	HepG2	liver
40	chr6:57089800-57091000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:57089800-57091000	Weak transcription	Ovary	ovary

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