Variant report

Variant	rs567554014
Chromosome Location	chr9:102862766-102862767
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	MXI1	chr9:102860222-102862815	IMR90	lung:	n/a	n/a
2	HNF4A	chr9:102862601-102862804	HepG2	liver:	n/a	chr9:102862745-102862760 chr9:102862723-102862736 chr9:102862723-102862736 chr9:102862721-102862736 chr9:102862723-102862736 chr9:102862722-102862736 chr9:102862745-102862760 chr9:102862721-102862736 chr9:102862720-102862738 chr9:102862745-102862760 chr9:102862723-102862735 chr9:102862722-102862735
3	EP300	chr9:102862639-102862784	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:102860210..102863951-chr9:102865614..102871017,5	K562	blood:
2	chr15:45003558..45004176-chr9:102861994..102862803,2	Hela-S3	cervix:
3	chr9:102861067..102864152-chr9:102881091..102884307,4	K562	blood:
4	chr9:102581254..102583712-chr9:102860113..102863116,3	K562	blood:

Variant related genes	Relation type
RN7SL75P	TF binding region
INVS	TF binding region
ERP44	TF binding region
ENSG00000166710	Chromatin interaction
ENSG00000119509	Chromatin interaction
ENSG00000270995	Chromatin interaction
ENSG00000237461	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3343459	chr9:102862156-102864304	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3405434	chr9:102862531-102863979	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102859600-102862800	Active TSS	NHLF	lung
2	chr9:102860000-102862800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:102860000-102862800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr9:102860200-102862800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:102860200-102862800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:102860200-102862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:102860200-102862800	Active TSS	Right Ventricle	heart
8	chr9:102860400-102862800	Active TSS	Psoas Muscle	Psoas
9	chr9:102860600-102862800	Active TSS	Hela-S3	cervix
10	chr9:102861200-102862800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:102861800-102862800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:102862000-102862800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:102862000-102862800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:102862000-102862800	Flanking Active TSS	Fetal Brain Female	brain
15	chr9:102862000-102862800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr9:102862000-102862800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr9:102862000-102862800	Flanking Active TSS	HUVEC	blood vessel
18	chr9:102862200-102862800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:102862200-102862800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:102862200-102862800	Enhancers	Primary B cells from peripheral blood	blood
21	chr9:102862200-102862800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:102862200-102862800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr9:102862200-102862800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr9:102862200-102862800	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr9:102862200-102862800	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr9:102862200-102862800	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr9:102862200-102862800	Enhancers	Small Intestine	intestine
28	chr9:102862200-102862800	Enhancers	Spleen	Spleen
29	chr9:102862200-102862800	Flanking Active TSS	Dnd41	blood
30	chr9:102862200-102866400	Weak transcription	Lung	lung
31	chr9:102862200-102866400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:102862200-102876800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:102862200-102876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:102862200-102879800	Weak transcription	Esophagus	oesophagus
35	chr9:102862200-102881000	Weak transcription	Gastric	stomach
36	chr9:102862200-102902400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:102862400-102862800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:102862400-102862800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:102862400-102862800	Enhancers	Primary B cells from cord blood	blood
40	chr9:102862400-102862800	Enhancers	Primary T cells from cord blood	blood
41	chr9:102862400-102862800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr9:102862400-102862800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr9:102862400-102862800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr9:102862400-102862800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr9:102862400-102862800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr9:102862400-102862800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr9:102862400-102862800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr9:102862400-102862800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr9:102862400-102862800	Enhancers	Adipose Nuclei	Adipose
50	chr9:102862400-102862800	Enhancers	Liver	Liver

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