Variant report

Variant	rs7867417
Chromosome Location	chr9:97021595-97021596
allele	C/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	POLR2A	chr9:97021355-97022093	GM19193	blood:	n/a	n/a
2	MYC	chr9:97021326-97022329	K562	blood:	n/a	n/a
3	ELF1	chr9:97021316-97022023	K562	blood:	n/a	chr9:97021593-97021604 chr9:97021593-97021604 chr9:97021594-97021603
4	ATF2	chr9:97021344-97021598	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:97021298-97021898	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:97021385-97021882	HCT-116	colon:	n/a	n/a
7	POLR2A	chr9:97021260-97021936	K562	blood:	n/a	n/a
8	POLR2A	chr9:97021385-97021858	GM12891	blood:	n/a	n/a
9	TAF1	chr9:97021380-97021981	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:97021309-97021864	IMR90	lung:	n/a	n/a
11	TEAD4	chr9:97021337-97021893	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr9:97021508-97021780	GM12878	blood:	n/a	n/a
13	BHLHE40	chr9:97021412-97022057	K562	blood:	n/a	n/a
14	TAF7	chr9:97021396-97021612	K562	blood:	n/a	n/a
15	SIN3AK20	chr9:97021149-97022147	MCF-7	breast:	n/a	n/a
16	MAZ	chr9:97021277-97022170	GM12878	blood:	n/a	n/a
17	MAX	chr9:97021286-97022194	MCF-7	breast:	n/a	n/a
18	SP4	chr9:97021257-97021700	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr9:97021339-97021827	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr9:97021346-97021836	GM12892	blood:	n/a	n/a
21	TCF12	chr9:97021259-97021991	A549	lung:	n/a	n/a
22	POLR2A	chr9:97021347-97021904	HCT-116	colon:	n/a	n/a
23	CREB1	chr9:97021234-97021924	H1-hESC	embryonic stem cell:	n/a	n/a
24	GABPA	chr9:97021463-97021621	Hela-S3	cervix:	n/a	n/a
25	UBTF	chr9:97021445-97022078	K562	blood:	n/a	n/a
26	POLR2A	chr9:97021290-97022142	K562	blood:	n/a	n/a
27	POLR2A	chr9:97021312-97021805	K562	blood:	n/a	n/a
28	MYC	chr9:97021306-97022140	K562	blood:	n/a	n/a
29	EP300	chr9:97021380-97021702	SK-N-SH_RA	brain:	n/a	n/a
30	SIX5	chr9:97021384-97021717	K562	blood:	n/a	n/a
31	MAZ	chr9:97021403-97021833	HepG2	liver:	n/a	n/a
32	SIX5	chr9:97021076-97021947	A549	lung:	n/a	n/a
33	GABPA	chr9:97021426-97021704	HepG2	liver:	n/a	n/a
34	YY1	chr9:97021417-97021685	K562	blood:	n/a	n/a
35	ELF1	chr9:97021118-97022169	HCT-116	colon:	n/a	chr9:97021593-97021604 chr9:97021593-97021604 chr9:97021594-97021603
36	SREBP1	chr9:97021039-97022087	GM12878	blood:	n/a	n/a
37	GABPA	chr9:97021364-97021968	MCF-7	breast:	n/a	n/a
38	E2F6	chr9:97021373-97022363	H1-hESC	embryonic stem cell:	n/a	chr9:97021677-97021687 chr9:97021678-97021686 chr9:97021678-97021686
39	SIX5	chr9:97021289-97021791	GM12878	blood:	n/a	n/a
40	TAF1	chr9:97021346-97021893	A549	lung:	n/a	n/a
41	MAX	chr9:97021290-97021953	SK-N-SH	brain:	n/a	n/a
42	CREB1	chr9:97021349-97021856	HepG2	liver:	n/a	n/a
43	MAX	chr9:97021308-97022176	NB4	blood:	n/a	n/a
44	MYC	chr9:97021469-97021687	HepG2	liver:	n/a	n/a
45	TCF12	chr9:97021517-97021702	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF12	chr9:97021346-97021639	GM12878	blood:	n/a	n/a
47	TBP	chr9:97021372-97021990	HepG2	liver:	n/a	n/a
48	POLR2A	chr9:97021303-97022707	HepG2	liver:	n/a	n/a
49	SIX5	chr9:97021233-97021808	A549	lung:	n/a	n/a
50	POLR2A	chr9:97021386-97022078	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97021249..97023395-chr9:97039780..97042509,4	MCF-7	breast:
2	chr9:97021406..97023043-chr9:97038524..97041223,2	K562	blood:

Variant related genes	Relation type
ZNF169	TF binding region
ENSG00000175787	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7866832	1.00[YRI][hapmap]

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	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
2	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases
3	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1054784	chr9:96976419-97025515	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv540174	chr9:96976419-97025515	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97020800-97021600	Active TSS	HepG2	liver
2	chr9:97021000-97021600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:97021000-97021600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:97021000-97021600	Active TSS	Primary T cells from cord blood	blood
5	chr9:97021000-97021600	Enhancers	Small Intestine	intestine
6	chr9:97021000-97021600	Flanking Active TSS	Dnd41	blood
7	chr9:97021000-97021800	Active TSS	Stomach Smooth Muscle	stomach
8	chr9:97021000-97022200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr9:97021000-97022200	Active TSS	Brain Anterior Caudate	brain
10	chr9:97021000-97022200	Active TSS	Placenta Amnion	Placenta Amnion
11	chr9:97021000-97022400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:97021000-97022400	Active TSS	Colonic Mucosa	Colon
13	chr9:97021000-97022400	Active TSS	Fetal Brain Female	brain
14	chr9:97021000-97022600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:97021000-97022600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:97021000-97022600	Active TSS	Brain Angular Gyrus	brain
17	chr9:97021000-97022600	Active TSS	Brain Cingulate Gyrus	brain
18	chr9:97021000-97022600	Flanking Active TSS	Placenta	Placenta
19	chr9:97021000-97022600	Active TSS	Rectal Smooth Muscle	rectum
20	chr9:97021000-97022600	Active TSS	GM12878-XiMat	blood
21	chr9:97021000-97023200	Active TSS	Hela-S3	cervix
22	chr9:97021200-97021600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:97021200-97021600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:97021200-97021600	Enhancers	Gastric	stomach
25	chr9:97021200-97021800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr9:97021200-97022000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:97021200-97022000	Active TSS	Duodenum Mucosa	Duodenum
28	chr9:97021200-97022000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr9:97021200-97022000	Active TSS	Thymus	Thymus
30	chr9:97021200-97022200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr9:97021200-97022200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr9:97021200-97022200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr9:97021200-97022200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:97021200-97022200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr9:97021200-97022200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:97021200-97022200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:97021200-97022200	Active TSS	Aorta	Aorta
38	chr9:97021200-97022200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:97021200-97022200	Active TSS	Brain Substantia Nigra	brain
40	chr9:97021200-97022200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr9:97021200-97022200	Active TSS	Fetal Kidney	kidney
42	chr9:97021200-97022200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr9:97021200-97022200	Active TSS	Fetal Lung	lung
44	chr9:97021200-97022200	Active TSS	Ovary	ovary
45	chr9:97021200-97022200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr9:97021200-97022200	Active TSS	Right Ventricle	heart
47	chr9:97021200-97022200	Active TSS	HUVEC	blood vessel
48	chr9:97021200-97022200	Active TSS	NH-A	brain
49	chr9:97021200-97022200	Active TSS	NHDF-Ad	bronchial
50	chr9:97021200-97022400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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