Variant report

Variant	rs540941656
Chromosome Location	chr9:102862520-102862521
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	HCFC1	chr9:102860073-102862658	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr9:102860270-102862684	GM12891	blood:	n/a	n/a
4	POLR2A	chr9:102860314-102862580	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr9:102861626-102862551	HepG2	liver:	n/a	chr9:102862034-102862043 chr9:102862034-102862043
6	REST	chr9:102860286-102862685	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:102860210..102863951-chr9:102865614..102871017,5	K562	blood:
2	chr9:102667836..102670748-chr9:102860445..102862735,2	K562	blood:
3	chr15:45003558..45004176-chr9:102861994..102862803,2	Hela-S3	cervix:
4	chr9:102861067..102864152-chr9:102881091..102884307,4	K562	blood:
5	chr9:102581254..102583712-chr9:102860113..102863116,3	K562	blood:

Variant related genes	Relation type
ERP44	TF binding region
RN7SL75P	TF binding region
INVS	TF binding region
ENSG00000255145	Chromatin interaction
ENSG00000136874	Chromatin interaction
ENSG00000119509	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000270995	Chromatin interaction
ENSG00000237461	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102859200-102862600	Active TSS	GM12878-XiMat	blood
2	chr9:102859200-102862600	Active TSS	K562	blood
3	chr9:102859600-102862800	Active TSS	NHLF	lung
4	chr9:102860000-102862600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:102860000-102862600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:102860000-102862600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:102860000-102862600	Active TSS	NHDF-Ad	bronchial
8	chr9:102860000-102862800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr9:102860000-102862800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:102860200-102862600	Active TSS	Right Atrium	heart
11	chr9:102860200-102862600	Active TSS	A549	lung
12	chr9:102860200-102862800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:102860200-102862800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:102860200-102862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:102860200-102862800	Active TSS	Right Ventricle	heart
16	chr9:102860400-102862600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:102860400-102862600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:102860400-102862600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr9:102860400-102862600	Active TSS	HMEC	breast
20	chr9:102860400-102862800	Active TSS	Psoas Muscle	Psoas
21	chr9:102860600-102862600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr9:102860600-102862600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr9:102860600-102862800	Active TSS	Hela-S3	cervix
24	chr9:102861000-102862600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:102861200-102862800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:102861600-102862600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr9:102861800-102862600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:102861800-102862600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr9:102861800-102862800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:102862000-102862600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr9:102862000-102862600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr9:102862000-102862600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr9:102862000-102862600	Flanking Active TSS	NH-A	brain
34	chr9:102862000-102862600	Flanking Active TSS	Osteobl	bone
35	chr9:102862000-102862800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:102862000-102862800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:102862000-102862800	Flanking Active TSS	Fetal Brain Female	brain
38	chr9:102862000-102862800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr9:102862000-102862800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr9:102862000-102862800	Flanking Active TSS	HUVEC	blood vessel
41	chr9:102862200-102862600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:102862200-102862600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr9:102862200-102862600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:102862200-102862600	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr9:102862200-102862600	Flanking Active TSS	Fetal Stomach	stomach
46	chr9:102862200-102862800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:102862200-102862800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr9:102862200-102862800	Enhancers	Primary B cells from peripheral blood	blood
49	chr9:102862200-102862800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:102862200-102862800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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