Variant report

Variant	rs574848554
Chromosome Location	chr9:86237444-86237445
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	POLR2A	chr9:86237425-86238660	HEK293	kidney:	n/a	n/a
2	YY1	chr9:86237315-86237613	K562	blood:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
3	MAX	chr9:86237415-86238860	GM12878	blood:	n/a	chr9:86238645-86238654 chr9:86238149-86238159
4	POLR2A	chr9:86237435-86238593	PFSK-1	brain:	n/a	n/a
5	MXI1	chr9:86237210-86239680	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr9:86237332-86239656	GM12878	blood:	n/a	n/a
7	MTA3	chr9:86237258-86239313	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:86237405-86238973	K562	blood:	n/a	n/a
9	HCFC1	chr9:86237430-86238777	K562	blood:	n/a	n/a
10	YY1	chr9:86237270-86237843	HepG2	liver:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
11	POLR2A	chr9:86237399-86239631	GM12891	blood:	n/a	n/a
12	YY1	chr9:86237318-86238513	GM12892	blood:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
13	YY1	chr9:86237306-86237598	GM12891	blood:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
14	YY1	chr9:86237333-86238474	K562	blood:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
15	YY1	chr9:86237334-86237583	HCT-116	colon:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
16	MAZ	chr9:86237363-86239140	GM12878	blood:	n/a	chr9:86238645-86238654 chr9:86238149-86238159
17	STAT1	chr9:86237406-86237804	GM12878	blood:	n/a	n/a
18	MAX	chr9:86237313-86238903	A549	lung:	n/a	chr9:86238645-86238654 chr9:86238149-86238159
19	MAZ	chr9:86237437-86239117	K562	blood:	n/a	chr9:86238645-86238654 chr9:86238149-86238159
20	GATA1	chr9:86237339-86239226	PBDE	blood:	n/a	chr9:86238709-86238720
21	YY1	chr9:86237308-86238583	ECC-1	luminal epithelium:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
22	POLR2A	chr9:86237289-86239050	GM12892	blood:	n/a	n/a
23	YY1	chr9:86237291-86238534	A549	lung:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
24	YY1	chr9:86237329-86238727	SK-N-SH_RA	brain:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
25	TCF12	chr9:86237432-86238979	A549	lung:	n/a	n/a
26	YY1	chr9:86237407-86238944	SK-N-SH	brain:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
27	POLR2A	chr9:86237351-86238999	GM19099	blood:	n/a	n/a
28	MAX	chr9:86237397-86237987	A549	lung:	n/a	n/a
29	STAT1	chr9:86237430-86238872	Hela-S3	cervix:	n/a	n/a
30	YY1	chr9:86237232-86238419	H1-hESC	embryonic stem cell:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
31	YY1	chr9:86237282-86238625	GM12892	blood:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
32	YY1	chr9:86237274-86238821	SK-N-SH	brain:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
33	TBL1XR1	chr9:86237378-86237468	GM12878	blood:	n/a	n/a
34	YY1	chr9:86237280-86237593	SK-N-SH_RA	brain:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
35	EP300	chr9:86237396-86237455	GM12878	blood:	n/a	n/a
36	SPI1	chr9:86237332-86237780	HL-60	blood:	n/a	chr9:86237365-86237372
37	YY1	chr9:86237265-86237659	H1-hESC	embryonic stem cell:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
38	POLR2A	chr9:86237376-86237522	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr9:86237250-86239488	GM12878	blood:	n/a	n/a
40	YY1	chr9:86237277-86238635	GM12878	blood:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
41	YY1	chr9:86237339-86238721	GM12878	blood:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
42	SIN3AK20	chr9:86237260-86239091	MCF-7	breast:	n/a	n/a
43	YY1	chr9:86237303-86237667	ECC-1	luminal epithelium:	n/a	chr9:86237454-86237476 chr9:86237467-86237475 chr9:86237464-86237476 chr9:86237472-86237482 chr9:86237465-86237473 chr9:86237466-86237476 chr9:86237472-86237482
44	HA-E2F1	chr9:86237436-86238764	MCF-7	breast:	n/a	chr9:86237570-86237582 chr9:86238178-86238187

No.	Distal block	Cell Line	Cell type
1	chr9:86237285..86238795-chr9:86535469..86537545,2	K562	blood:
2	chr9:86235893..86237501-chr9:86238448..86240518,2	MCF-7	breast:
3	chr9:86236918..86239524-chr9:86322198..86323756,2	K562	blood:
4	chr9:86237271..86239294-chr9:86534482..86537409,3	MCF-7	breast:
5	chr9:86237033..86239481-chr9:86571525..86573399,2	MCF-7	breast:
6	chr16:73080234..73082394-chr9:86236447..86238062,2	MCF-7	breast:
7	chr9:86236280..86241962-chr9:86320992..86325340,9	MCF-7	breast:
8	chr9:86234634..86237562-chr9:86262513..86264120,2	MCF-7	breast:
9	chr9:86236616..86242493-chr9:86533666..86537484,7	MCF-7	breast:

Variant related genes	Relation type
IDNK	TF binding region
ENSG00000254473	Chromatin interaction
ENSG00000135018	Chromatin interaction
ENSG00000165115	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000165118	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	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv516587	chr9:86226119-86255765	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv3410885	chr9:86236957-86239705	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86236200-86237600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:86236200-86237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:86236200-86237600	Weak transcription	Right Ventricle	heart
4	chr9:86237200-86237600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:86237200-86237600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:86237200-86237800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr9:86237200-86237800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:86237200-86237800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr9:86237200-86238000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:86237200-86238400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:86237200-86238600	Active TSS	HSMM	muscle
12	chr9:86237200-86238600	Active TSS	NHDF-Ad	bronchial
13	chr9:86237200-86238600	Active TSS	Osteobl	bone
14	chr9:86237200-86238800	Active TSS	GM12878-XiMat	blood
15	chr9:86237200-86239000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr9:86237200-86239200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr9:86237400-86237600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr9:86237400-86237600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr9:86237400-86237600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:86237400-86237600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr9:86237400-86237600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:86237400-86237600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr9:86237400-86237600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr9:86237400-86237600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:86237400-86237600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr9:86237400-86237600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr9:86237400-86237600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:86237400-86237600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:86237400-86237600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:86237400-86237600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:86237400-86237600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:86237400-86237600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr9:86237400-86237600	Flanking Active TSS	Liver	Liver
34	chr9:86237400-86237600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr9:86237400-86237600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr9:86237400-86237600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr9:86237400-86237600	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr9:86237400-86237600	Enhancers	Colonic Mucosa	Colon
39	chr9:86237400-86237600	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr9:86237400-86237600	Flanking Active TSS	Esophagus	oesophagus
41	chr9:86237400-86237600	Flanking Active TSS	Fetal Brain Female	brain
42	chr9:86237400-86237600	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr9:86237400-86237600	Flanking Active TSS	Fetal Lung	lung
44	chr9:86237400-86237600	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr9:86237400-86237600	Flanking Active TSS	Placenta	Placenta
46	chr9:86237400-86237600	Flanking Active TSS	Fetal Stomach	stomach
47	chr9:86237400-86237600	Enhancers	Left Ventricle	heart
48	chr9:86237400-86237600	Enhancers	Pancreas	Pancrea
49	chr9:86237400-86237600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr9:86237400-86237600	Flanking Active TSS	Right Atrium	heart

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