Variant report

Variant	rs372156137
Chromosome Location	chr9:95639850-95639851
allele	-/TTAA
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	POLR2A	chr9:95639767-95640775	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr9:95639839-95640524	MCF-7	breast:	n/a	n/a
3	POLR2A	chr9:95639847-95640646	GM12892	blood:	n/a	n/a
4	HEY1	chr9:95639772-95640640	K562	blood:	n/a	n/a
5	POU2F2	chr9:95639794-95640567	GM12891	blood:	n/a	chr9:95639843-95639858 chr9:95639841-95639856
6	TAF1	chr9:95639847-95640684	H1-hESC	embryonic stem cell:	n/a	n/a
7	MTA3	chr9:95639802-95640743	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:95639729-95640691	GM12892	blood:	n/a	n/a
9	ARID3A	chr9:95639498-95639870	K562	blood:	n/a	n/a
10	POU2F2	chr9:95639824-95640760	GM12878	blood:	n/a	chr9:95639841-95639856 chr9:95639843-95639858
11	POLR2A	chr9:95639806-95640732	Raji	blood:	n/a	n/a
12	POLR2A	chr9:95639850-95640687	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:95639790-95640698	Hela-S3	cervix:	n/a	n/a
14	EGR1	chr9:95639777-95640078	K562	blood:	n/a	n/a
15	MXI1	chr9:95639664-95640846	SK-N-SH	brain:	n/a	n/a
16	JUN	chr9:95639693-95640760	K562	blood:	n/a	n/a
17	POLR2A	chr9:95639798-95640742	GM12892	blood:	n/a	n/a
18	POLR2A	chr9:95639491-95640643	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr9:95639762-95640646	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr9:95639848-95640792	A549	lung:	n/a	n/a
21	POLR2A	chr9:95639829-95640619	GM12878	blood:	n/a	n/a
22	ELF1	chr9:95639841-95640634	GM12878	blood:	n/a	chr9:95640252-95640265
23	YY1	chr9:95639768-95640889	A549	lung:	n/a	chr9:95640449-95640471 chr9:95640417-95640426 chr9:95640410-95640422 chr9:95640448-95640460 chr9:95640358-95640366 chr9:95640347-95640369 chr9:95640452-95640460 chr9:95640449-95640459
24	EGR1	chr9:95639777-95639972	K562	blood:	n/a	n/a
25	TAF1	chr9:95639780-95640558	K562	blood:	n/a	n/a
26	POLR2A	chr9:95639780-95640572	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr9:95639800-95640765	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:95639699-95640864	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr9:95639704-95640701	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr9:95639781-95640681	K562	blood:	n/a	n/a
31	POLR2A	chr9:95639814-95640602	ProgFib	skin:	n/a	n/a
32	ZNF263	chr9:95639813-95640632	HEK293-T-REx	kidney:	n/a	chr9:95640027-95640048 chr9:95640061-95640082
33	MXI1	chr9:95639673-95640991	IMR90	lung:	n/a	n/a
34	HCFC1	chr9:95639682-95640932	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr9:95639832-95640661	MCF-7	breast:	n/a	n/a
36	YY1	chr9:95639839-95640968	SK-N-SH	brain:	n/a	chr9:95640449-95640471 chr9:95640417-95640426 chr9:95640410-95640422 chr9:95640448-95640460 chr9:95640358-95640366 chr9:95640347-95640369 chr9:95640452-95640460 chr9:95640449-95640459
37	POLR2A	chr9:95639838-95640695	HepG2	liver:	n/a	n/a
38	REST	chr9:95639821-95640805	H1-neurons	neurons:	n/a	chr9:95640297-95640304

No.	Distal block	Cell Line	Cell type
1	chr9:95639787..95641673-chr9:95820453..95823030,2	K562	blood:
2	chr9:95630407..95632096-chr9:95638470..95640204,2	K562	blood:
3	chr9:95570373..95571952-chr9:95637590..95640500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226668	TF binding region
ENSG00000187984	Chromatin interaction
ENSG00000157303	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv893574	chr9:95580376-95688099	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv972781	chr9:95639258-95671744	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95638000-95640400	Active TSS	GM12878-XiMat	blood
2	chr9:95638600-95640400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr9:95638600-95640400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr9:95638600-95640400	Active TSS	Brain Germinal Matrix	brain
5	chr9:95638600-95640400	Active TSS	Fetal Lung	lung
6	chr9:95638600-95640400	Active TSS	HMEC	breast
7	chr9:95638600-95640400	Active TSS	K562	blood
8	chr9:95638600-95640400	Active TSS	NHDF-Ad	bronchial
9	chr9:95638600-95640600	Active TSS	Fetal Brain Female	brain
10	chr9:95638600-95640800	Active TSS	Brain Angular Gyrus	brain
11	chr9:95638600-95640800	Active TSS	Brain Cingulate Gyrus	brain
12	chr9:95638800-95640400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr9:95638800-95640600	Active TSS	NHLF	lung
14	chr9:95639000-95640400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:95639000-95640400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:95639000-95640400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:95639000-95640400	Active TSS	A549	lung
18	chr9:95639000-95640600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:95639000-95640600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr9:95639000-95640600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr9:95639000-95640800	Active TSS	Rectal Smooth Muscle	rectum
22	chr9:95639200-95640000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:95639200-95640400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:95639200-95640400	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr9:95639200-95640400	Active TSS	NH-A	brain
26	chr9:95639200-95640600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:95639200-95640800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:95639200-95640800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:95639200-95640800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:95639400-95640400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr9:95639400-95640400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:95639400-95640400	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr9:95639400-95640400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:95639400-95640400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:95639400-95640400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr9:95639400-95640400	Active TSS	Brain Hippocampus Middle	brain
37	chr9:95639400-95640400	Active TSS	Fetal Intestine Large	intestine
38	chr9:95639400-95640400	Active TSS	Fetal Muscle Leg	muscle
39	chr9:95639400-95640400	Active TSS	Fetal Stomach	stomach
40	chr9:95639400-95640400	Active TSS	Dnd41	blood
41	chr9:95639400-95640400	Active TSS	HepG2	liver
42	chr9:95639400-95640400	Active TSS	HUVEC	blood vessel
43	chr9:95639400-95640400	Active TSS	NHEK	skin
44	chr9:95639400-95640400	Active TSS	Osteobl	bone
45	chr9:95639400-95640600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr9:95639400-95640600	Active TSS	H1 Cell Line	embryonic stem cell
47	chr9:95639400-95640600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:95639400-95640600	Active TSS	Fetal Brain Male	brain
49	chr9:95639400-95640600	Active TSS	Stomach Smooth Muscle	stomach
50	chr9:95639400-95640600	Active TSS	HSMMtube	muscle

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