Variant report

Variant	rs7044976
Chromosome Location	chr9:94909996-94909997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:94909437-94910314	GM19193	blood:	n/a	n/a
2	CTCF	chr9:94909940-94910090	HRE	kidney:	n/a	n/a
3	KAP1	chr9:94909374-94910267	HEK293	kidney:	n/a	chr9:94909711-94909720
4	POLR2A	chr9:94909436-94910402	GM12892	blood:	n/a	n/a
5	MAX	chr9:94909436-94910118	A549	lung:	n/a	n/a
6	NR2F2	chr9:94908858-94910266	K562	blood:	n/a	n/a
7	POLR2A	chr9:94909432-94910350	ProgFib	skin:	n/a	n/a
8	RAD21	chr9:94909138-94910074	IMR90	lung:	n/a	n/a
9	HEY1	chr9:94909326-94910002	K562	blood:	n/a	n/a
10	POLR2A	chr9:94909347-94909997	HUVEC	blood vessel:	n/a	n/a
11	MAZ	chr9:94908815-94910334	IMR90	lung:	n/a	n/a
12	MAX	chr9:94909331-94910415	K562	blood:	n/a	n/a
13	POLR2A	chr9:94909292-94910198	HUVEC	blood vessel:	n/a	n/a
14	E2F6	chr9:94909138-94910264	K562	blood:	n/a	n/a
15	RCOR1	chr9:94909415-94910069	K562	blood:	n/a	n/a
16	FOS	chr9:94909428-94910105	HUVEC	blood vessel:	n/a	n/a
17	USF1	chr9:94909743-94910080	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr9:94909335-94910072	HUVEC	blood vessel:	n/a	n/a
19	TAF1	chr9:94909518-94910028	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr9:94909407-94910034	HUVEC	blood vessel:	n/a	n/a
21	EGR1	chr9:94909346-94910172	HCT-116	colon:	n/a	n/a
22	E2F6	chr9:94909771-94910107	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr9:94909528-94910147	HCT-116	colon:	n/a	n/a
24	POLR2A	chr9:94909410-94910110	HCT-116	colon:	n/a	n/a
25	CTCF	chr9:94909960-94910110	HEK293	kidney:	n/a	n/a
26	TAF1	chr9:94909507-94910075	K562	blood:	n/a	n/a
27	TCF12	chr9:94908988-94910042	A549	lung:	n/a	chr9:94909801-94909811 chr9:94909086-94909094 chr9:94909484-94909493
28	TCF7L2	chr9:94909376-94910099	HCT-116	colon:	n/a	n/a
29	POLR2A	chr9:94909622-94910012	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr9:94909382-94910370	U87	brain:	n/a	n/a
31	E2F6	chr9:94909809-94910002	K562	blood:	n/a	n/a
32	TBL1XR1	chr9:94909787-94910067	K562	blood:	n/a	n/a
33	JUND	chr9:94909125-94909999	K562	blood:	n/a	chr9:94909396-94909403
34	CTCF	chr9:94909920-94910070	HRE	kidney:	n/a	n/a
35	CTCF	chr9:94909920-94910070	HCM	heart:	n/a	n/a
36	POLR2A	chr9:94909442-94910192	HCT-116	colon:	n/a	n/a
37	USF2	chr9:94909919-94910006	GM12878	blood:	n/a	n/a
38	EBF1	chr9:94909667-94910388	GM12878	blood:	n/a	n/a
39	CBX3	chr9:94909221-94910068	K562	blood:	n/a	n/a
40	CTCF	chr9:94909920-94910070	SAEC	small airway:	n/a	n/a
41	POLR2A	chr9:94909393-94910266	A549	lung:	n/a	n/a
42	MYC	chr9:94909048-94910402	K562	blood:	n/a	n/a
43	REST	chr9:94909540-94910006	SK-N-SH	brain:	n/a	n/a
44	ELF1	chr9:94909448-94910161	GM12878	blood:	n/a	n/a
45	SP1	chr9:94909348-94910188	HCT-116	colon:	n/a	n/a
46	TAF1	chr9:94909477-94910025	A549	lung:	n/a	n/a
47	EP300	chr9:94909378-94910047	A549	lung:	n/a	n/a
48	BHLHE40	chr9:94909275-94910098	K562	blood:	n/a	n/a
49	CTCF	chr9:94909931-94910079	GM12878	blood:	n/a	n/a
50	USF1	chr9:94909799-94910103	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94902223..94905302-chr9:94908199..94910430,4	MCF-7	breast:
2	chr9:94900325..94903739-chr9:94909399..94912070,4	MCF-7	breast:
3	chr9:94909662..94911780-chr9:94913646..94915674,2	K562	blood:
4	chr9:94909200..94911052-chr9:95430848..95432803,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CENPP-3	chr9:94909994-94910064	XLOC_007458
2	lnc-CENPP-3	chr9:94909446-94910419	NONHSAT133169

No data

Variant related genes	Relation type
ENSG00000238996	TF binding region
LINC00475	TF binding region
ENSG00000225511	Chromatin interaction
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10820943	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992250	0.87[CEU][hapmap]
rs1970119	0.93[CEU][hapmap];0.95[CHD][hapmap];0.82[AMR][1000 genomes]
rs55715457	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68017831	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94906800-94911200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:94907800-94910400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:94908000-94910000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94908200-94910400	Enhancers	HUVEC	blood vessel
5	chr9:94908400-94910000	Enhancers	Fetal Stomach	stomach
6	chr9:94908400-94910400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:94908400-94910400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:94908400-94911000	Enhancers	Fetal Muscle Trunk	muscle
9	chr9:94908600-94910200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr9:94908600-94910400	Enhancers	Fetal Muscle Leg	muscle
11	chr9:94908600-94910400	Enhancers	Ovary	ovary
12	chr9:94908600-94910400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr9:94908600-94910400	Enhancers	NHDF-Ad	bronchial
14	chr9:94908800-94910000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:94908800-94910000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr9:94908800-94910000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr9:94908800-94910000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:94908800-94910000	Enhancers	Brain Hippocampus Middle	brain
19	chr9:94908800-94910400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr9:94908800-94910400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:94908800-94910400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:94908800-94910400	Enhancers	Spleen	Spleen
23	chr9:94908800-94910400	Enhancers	NH-A	brain
24	chr9:94908800-94910600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:94908800-94910600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:94908800-94911000	Enhancers	Placenta	Placenta
27	chr9:94909000-94910000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:94909000-94910000	Enhancers	Fetal Intestine Large	intestine
29	chr9:94909000-94910200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:94909000-94910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:94909000-94910200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:94909000-94910200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:94909000-94910200	Enhancers	Fetal Lung	lung
34	chr9:94909000-94910200	Enhancers	Gastric	stomach
35	chr9:94909000-94910200	Enhancers	Lung	lung
36	chr9:94909000-94910200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr9:94909000-94910200	Flanking Active TSS	A549	lung
38	chr9:94909000-94910200	Flanking Active TSS	K562	blood
39	chr9:94909000-94910200	Flanking Active TSS	Osteobl	bone
40	chr9:94909000-94910400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:94909000-94910400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:94909000-94910400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:94909000-94910400	Enhancers	Left Ventricle	heart
44	chr9:94909200-94910000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:94909200-94910000	Enhancers	Colon Smooth Muscle	Colon
46	chr9:94909200-94910000	Flanking Active TSS	NHEK	skin
47	chr9:94909200-94910200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:94909200-94910200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr9:94909200-94910200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr9:94909200-94910400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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