Variant report

Variant	rs539910173
Chromosome Location	chr9:86237306-86237307
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	MXI1	chr9:86237210-86239680	SK-N-SH	brain:	n/a	n/a
2	MTA3	chr9:86237258-86239313	GM12878	blood:	n/a	n/a
3	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
4	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
5	POLR2A	chr9:86237289-86239050	GM12892	blood:	n/a	n/a
6	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
7	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
8	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
9	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
10	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
11	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
12	POLR2A	chr9:86237250-86239488	GM12878	blood:	n/a	n/a
13	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
14	SIN3AK20	chr9:86237260-86239091	MCF-7	breast:	n/a	n/a
15	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

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
ENSG00000165115	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000165118	Chromatin interaction
ENSG00000254473	Chromatin interaction
ENSG00000135018	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86216200-86237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:86235600-86237400	Enhancers	Fetal Intestine Large	intestine
3	chr9:86235600-86237400	Enhancers	Fetal Intestine Small	intestine
4	chr9:86235600-86237400	Enhancers	Fetal Thymus	thymus
5	chr9:86235800-86237400	Enhancers	Thymus	Thymus
6	chr9:86236200-86237400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:86236200-86237400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:86236200-86237400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:86236200-86237400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:86236200-86237400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:86236200-86237400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:86236200-86237400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:86236200-86237400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr9:86236200-86237400	Weak transcription	Primary T cells from cord blood	blood
15	chr9:86236200-86237400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:86236200-86237400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:86236200-86237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:86236200-86237400	Weak transcription	Adipose Nuclei	Adipose
19	chr9:86236200-86237400	Weak transcription	Brain Anterior Caudate	brain
20	chr9:86236200-86237400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:86236200-86237400	Weak transcription	Colonic Mucosa	Colon
22	chr9:86236200-86237400	Weak transcription	Esophagus	oesophagus
23	chr9:86236200-86237400	Weak transcription	Fetal Heart	heart
24	chr9:86236200-86237400	Weak transcription	Left Ventricle	heart
25	chr9:86236200-86237400	Weak transcription	Pancreas	Pancrea
26	chr9:86236200-86237400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:86236200-86237400	Weak transcription	Right Atrium	heart
28	chr9:86236200-86237400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:86236200-86237400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:86236200-86237400	Enhancers	Stomach Mucosa	stomach
31	chr9:86236200-86237400	Weak transcription	Spleen	Spleen
32	chr9:86236200-86237400	Weak transcription	K562	blood
33	chr9:86236200-86237400	Weak transcription	NHLF	lung
34	chr9:86236200-86237600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:86236200-86237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:86236200-86237600	Weak transcription	Right Ventricle	heart
37	chr9:86236400-86237400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:86236400-86237400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr9:86236400-86237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:86236400-86237400	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:86236400-86237400	Weak transcription	Brain Substantia Nigra	brain
42	chr9:86236400-86237400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr9:86236400-86237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr9:86236600-86237400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:86236600-86237400	Enhancers	Liver	Liver
46	chr9:86236600-86237400	Enhancers	Duodenum Mucosa	Duodenum
47	chr9:86236800-86237400	Enhancers	HepG2	liver
48	chr9:86237000-86237400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr9:86237000-86237400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:86237200-86237400	Enhancers	Primary neutrophils fromperipheralblood	blood

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