Variant report

Variant	rs554375393
Chromosome Location	chr9:95640070-95640071
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	RCOR1	chr9:95640040-95640596	HepG2	liver:	n/a	n/a
2	TAF1	chr9:95640016-95640477	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr9:95639767-95640775	SK-N-MC	brain:	n/a	n/a
4	SPI1	chr9:95640004-95640403	K562	blood:	n/a	chr9:95640252-95640265 chr9:95640253-95640266 chr9:95640253-95640266
5	POLR2A	chr9:95640034-95640563	K562	blood:	n/a	n/a
6	MYC	chr9:95640043-95640592	MCF-7	breast:	n/a	n/a
7	POLR2A	chr9:95640060-95640624	SK-N-SH	brain:	n/a	n/a
8	REST	chr9:95639873-95640666	A549	lung:	n/a	chr9:95640297-95640304
9	YY1	chr9:95640046-95640876	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
10	POLR2A	chr9:95639853-95640498	MCF-7	breast:	n/a	n/a
11	ELF1	chr9:95640035-95640553	MCF-7	breast:	n/a	chr9:95640252-95640265
12	POLR2A	chr9:95639928-95640665	GM18951	blood:	n/a	n/a
13	POLR2A	chr9:95639839-95640524	MCF-7	breast:	n/a	n/a
14	POLR2A	chr9:95639847-95640646	GM12892	blood:	n/a	n/a
15	ELF1	chr9:95639979-95640656	MCF-7	breast:	n/a	chr9:95640252-95640265
16	POLR2A	chr9:95639939-95640667	GM19099	blood:	n/a	n/a
17	HEY1	chr9:95639907-95640605	K562	blood:	n/a	n/a
18	SPI1	chr9:95640037-95640441	K562	blood:	n/a	chr9:95640252-95640265 chr9:95640253-95640266 chr9:95640253-95640266
19	TAF1	chr9:95640030-95640599	SK-N-SH	brain:	n/a	n/a
20	EGR1	chr9:95640056-95640818	HCT-116	colon:	n/a	chr9:95640315-95640324
21	JUND	chr9:95640059-95640632	K562	blood:	n/a	n/a
22	POLR2A	chr9:95639875-95640654	GM12891	blood:	n/a	n/a
23	ZEB1	chr9:95640069-95640560	GM12878	blood:	n/a	chr9:95640167-95640174
24	TBP	chr9:95640052-95640648	GM12878	blood:	n/a	n/a
25	TAF1	chr9:95640016-95640599	GM12891	blood:	n/a	n/a
26	POLR2A	chr9:95639866-95640687	GM12878	blood:	n/a	n/a
27	CHD2	chr9:95640045-95640575	K562	blood:	n/a	n/a
28	THAP1	chr9:95639996-95640540	K562	blood:	n/a	chr9:95640344-95640368 chr9:95640450-95640459
29	POLR2A	chr9:95639995-95640685	HepG2	liver:	n/a	n/a
30	ELK1	chr9:95640054-95640568	GM12878	blood:	n/a	n/a
31	TAF1	chr9:95640042-95640498	GM12891	blood:	n/a	n/a
32	YY1	chr9:95640068-95640784	GM12878	blood:	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
33	MAZ	chr9:95639932-95640593	K562	blood:	n/a	n/a
34	ELF1	chr9:95639969-95640583	K562	blood:	n/a	chr9:95640252-95640265
35	STAT3	chr9:95640045-95640616	GM12878	blood:	n/a	n/a
36	SIX5	chr9:95639927-95640919	A549	lung:	n/a	n/a
37	POLR2A	chr9:95640026-95640632	PANC-1	pancreas:	n/a	n/a
38	TBP	chr9:95640031-95640614	K562	blood:	n/a	n/a
39	POLR2A	chr9:95639953-95640662	GM12892	blood:	n/a	n/a
40	RFX5	chr9:95640033-95640643	GM12878	blood:	n/a	n/a
41	POLR2A	chr9:95640064-95640376	A549	lung:	n/a	n/a
42	PML	chr9:95639864-95640683	GM12878	blood:	n/a	n/a
43	MTA3	chr9:95639952-95640809	GM12878	blood:	n/a	n/a
44	TAF1	chr9:95640004-95640631	H1-hESC	embryonic stem cell:	n/a	n/a
45	SPI1	chr9:95639944-95640541	GM12891	blood:	n/a	chr9:95640252-95640265 chr9:95640253-95640266 chr9:95640253-95640266
46	ZNF143	chr9:95640002-95640570	K562	blood:	n/a	n/a
47	YY1	chr9:95639994-95640674	GM12891	blood:	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
48	ETS1	chr9:95639954-95640692	A549	lung:	n/a	chr9:95640248-95640262 chr9:95640245-95640262 chr9:95640250-95640261
49	HEY1	chr9:95639772-95640640	K562	blood:	n/a	n/a
50	RCOR1	chr9:95639890-95640676	K562	blood:	n/a	n/a

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	chr9:95639200-95640400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:95639200-95640400	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr9:95639200-95640400	Active TSS	NH-A	brain
25	chr9:95639200-95640600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:95639200-95640800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:95639200-95640800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:95639200-95640800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:95639400-95640400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr9:95639400-95640400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:95639400-95640400	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr9:95639400-95640400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr9:95639400-95640400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:95639400-95640400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr9:95639400-95640400	Active TSS	Brain Hippocampus Middle	brain
36	chr9:95639400-95640400	Active TSS	Fetal Intestine Large	intestine
37	chr9:95639400-95640400	Active TSS	Fetal Muscle Leg	muscle
38	chr9:95639400-95640400	Active TSS	Fetal Stomach	stomach
39	chr9:95639400-95640400	Active TSS	Dnd41	blood
40	chr9:95639400-95640400	Active TSS	HepG2	liver
41	chr9:95639400-95640400	Active TSS	HUVEC	blood vessel
42	chr9:95639400-95640400	Active TSS	NHEK	skin
43	chr9:95639400-95640400	Active TSS	Osteobl	bone
44	chr9:95639400-95640600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr9:95639400-95640600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr9:95639400-95640600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:95639400-95640600	Active TSS	Fetal Brain Male	brain
48	chr9:95639400-95640600	Active TSS	Stomach Smooth Muscle	stomach
49	chr9:95639400-95640600	Active TSS	HSMMtube	muscle
50	chr9:95639400-95640800	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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