Variant report

Variant	rs575972643
Chromosome Location	chr9:97316949-97316950
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:254)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:97316658-97316958	Medullo	brain:	n/a	n/a
2	RAD21	chr9:97316638-97317149	A549	lung:	n/a	n/a
3	JUN	chr9:97316711-97317065	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr9:97316817-97317083	MCF-7	breast:	n/a	n/a
5	CHD1	chr9:97316774-97317575	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr9:97316624-97317200	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:97316603-97317041	GM12878	blood:	n/a	n/a
8	SIN3A	chr9:97316647-97317708	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr9:97316868-97317324	HepG2	liver:	n/a	n/a
10	JUND	chr9:97316755-97316974	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:97316603-97317548	HepG2	liver:	n/a	n/a
12	RCOR1	chr9:97316641-97317064	K562	blood:	n/a	n/a
13	HDAC2	chr9:97316252-97317276	MCF-7	breast:	n/a	n/a
14	TEAD4	chr9:97316666-97317040	K562	blood:	n/a	n/a
15	RAD21	chr9:97316489-97317183	MCF-7	breast:	n/a	n/a
16	NRF1	chr9:97316824-97317492	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr9:97316566-97317852	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr9:97316508-97317578	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr9:97316767-97317200	HepG2	liver:	n/a	n/a
20	HEY1	chr9:97316727-97317582	HepG2	liver:	n/a	n/a
21	CREB1	chr9:97316575-97317433	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr9:97316424-97317391	ECC-1	luminal epithelium:	n/a	n/a
23	CTCF	chr9:97316565-97317049	A549	lung:	n/a	n/a
24	TBP	chr9:97316705-97317344	K562	blood:	n/a	n/a
25	MYC	chr9:97316629-97317232	K562	blood:	n/a	n/a
26	MYC	chr9:97316653-97317149	K562	blood:	n/a	n/a
27	TEAD4	chr9:97316615-97317099	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr9:97316739-97317051	HepG2	liver:	n/a	chr9:97316884-97316895
29	MAX	chr9:97316758-97317677	H1-hESC	embryonic stem cell:	n/a	n/a
30	SMC3	chr9:97316642-97317024	GM12878	blood:	n/a	n/a
31	MXI1	chr9:97316673-97317583	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr9:97316608-97317780	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr9:97316795-97317538	HCT-116	colon:	n/a	n/a
34	SIN3AK20	chr9:97316427-97317735	MCF-7	breast:	n/a	n/a
35	POLR2A	chr9:97316668-97317237	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr9:97316506-97317388	MCF-7	breast:	n/a	n/a
37	SMC3	chr9:97316644-97317211	HepG2	liver:	n/a	n/a
38	CTCF	chr9:97316594-97317064	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr9:97316863-97317257	Gliobla	brain:	n/a	n/a
40	CEBPB	chr9:97316730-97317018	K562	blood:	n/a	chr9:97316884-97316895
41	GTF2F1	chr9:97316754-97317496	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr9:97316541-97317412	HepG2	liver:	n/a	n/a
43	RCOR1	chr9:97316659-97317257	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr9:97316623-97316975	ECC-1	luminal epithelium:	n/a	n/a
45	EP300	chr9:97316647-97317175	HepG2	liver:	n/a	n/a
46	POLR2A	chr9:97316515-97317351	Hela-S3	cervix:	n/a	n/a
47	RFX5	chr9:97316607-97317402	Hela-S3	cervix:	n/a	n/a
48	ZNF143	chr9:97316608-97317189	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr9:97316593-97317233	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr9:97316747-97317236	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97316005..97317970-chr9:97766242..97767931,2	MCF-7	breast:
2	chr9:97316436..97317261-chr9:97893369..97894207,2	K562	blood:
3	chr9:97316754..97318987-chr9:97400777..97403144,3	MCF-7	breast:
4	chr9:97316090..97317268-chr9:97365275..97366675,11	MCF-7	breast:
5	chr9:97315606..97318346-chr9:97888439..97891401,2	MCF-7	breast:
6	chr9:97316341..97317245-chr9:97365199..97365958,5	K562	blood:

No data

Variant related genes	Relation type
PCAT7	TF binding region
ENSG00000158169	Chromatin interaction
ENSG00000165140	Chromatin interaction
ENSG00000148120	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	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv893595	chr9:97268182-97330693	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv972786	chr9:97308737-97320211	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv18072	chr9:97316907-97320096	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97315200-97319200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr9:97315400-97318800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:97315600-97317400	Active TSS	Colonic Mucosa	Colon
4	chr9:97315600-97317600	Active TSS	Duodenum Mucosa	Duodenum
5	chr9:97315600-97317600	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr9:97315600-97319200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:97315800-97317200	Active TSS	Rectal Smooth Muscle	rectum
8	chr9:97315800-97317400	Bivalent/Poised TSS	HepG2	liver
9	chr9:97315800-97317600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr9:97316000-97317400	Active TSS	Stomach Mucosa	stomach
11	chr9:97316000-97318000	Active TSS	A549	lung
12	chr9:97316000-97318800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:97316200-97317200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:97316200-97317200	Active TSS	Gastric	stomach
15	chr9:97316200-97318600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:97316200-97318800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:97316200-97319200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:97316400-97317000	Active TSS	Hela-S3	cervix
19	chr9:97316400-97317200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:97316400-97317200	Active TSS	Liver	Liver
21	chr9:97316400-97317400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr9:97316400-97318200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:97316400-97318800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr9:97316600-97317000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:97316600-97317000	Active TSS	Osteobl	bone
26	chr9:97316600-97317200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:97316600-97317200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:97316600-97317200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:97316600-97317200	Active TSS	Fetal Kidney	kidney
30	chr9:97316600-97317200	Bivalent Enhancer	Dnd41	blood
31	chr9:97316600-97317200	Active TSS	HSMM	muscle
32	chr9:97316600-97317400	Active TSS	Fetal Muscle Trunk	muscle
33	chr9:97316600-97317400	Active TSS	NHEK	skin
34	chr9:97316600-97317600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr9:97316600-97318600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:97316600-97318800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr9:97316600-97319000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr9:97316600-97319200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:97316800-97317000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:97316800-97317200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:97316800-97317200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr9:97316800-97317200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:97316800-97317200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr9:97316800-97317200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr9:97316800-97317200	Active TSS	Stomach Smooth Muscle	stomach
46	chr9:97316800-97317200	Active TSS	K562	blood
47	chr9:97316800-97317400	Active TSS	Pancreas	Pancrea
48	chr9:97316800-97317800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:97316800-97317800	Active TSS	Placenta	Placenta
50	chr9:97316800-97318200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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