Variant report

Variant	rs73486592
Chromosome Location	chr9:100978376-100978377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr9:100977620-100978705	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr9:100978240-100978390	SAEC	small airway:	n/a	n/a
3	CTCF	chr9:100978240-100978390	AG09319	gingival:	n/a	n/a
4	CTCF	chr9:100978260-100978410	Caco-2	colon:	n/a	n/a
5	CTCF	chr9:100978260-100978410	HL-60	blood:	n/a	n/a
6	CTCF	chr9:100978197-100978394	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr9:100978260-100978410	GM12878	blood:	n/a	n/a
8	CTCF	chr9:100978300-100978450	GM12870	blood:	n/a	n/a
9	CTCF	chr9:100978240-100978390	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr9:100978210-100978420	Lung_OC	lung:	n/a	n/a
11	CTCF	chr9:100978240-100978390	AG10803	skin:	n/a	n/a
12	CTCF	chr9:100978240-100978390	HepG2	liver:	n/a	n/a
13	TCF7L2	chr9:100978159-100978439	MCF-7	breast:	n/a	chr9:100978275-100978291 chr9:100978275-100978291 chr9:100978275-100978289 chr9:100978278-100978287
14	CTCF	chr9:100978138-100978503	A549	lung:	n/a	n/a
15	SMC3	chr9:100978149-100978467	GM12878	blood:	n/a	n/a
16	CTCF	chr9:100978260-100978410	HCFaa	heart:	n/a	n/a
17	CTCF	chr9:100978220-100978420	GM19240	blood:	n/a	n/a
18	CTCF	chr9:100978240-100978390	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr9:100978240-100978390	AG04450	lung:	n/a	n/a
20	CTCF	chr9:100978240-100978390	HUVEC	blood vessel:	n/a	n/a
21	RAD21	chr9:100978116-100978436	GM12878	blood:	n/a	n/a
22	RAD21	chr9:100977998-100978531	HCT-116	colon:	n/a	n/a
23	TCF7L2	chr9:100978071-100978500	PANC-1	pancreas:	n/a	chr9:100978275-100978291 chr9:100978275-100978291 chr9:100978275-100978289 chr9:100978278-100978287
24	CTCF	chr9:100978234-100978421	ProgFib	skin:	n/a	n/a
25	RAD21	chr9:100978139-100978454	A549	lung:	n/a	n/a
26	CTCF	chr9:100978260-100978410	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr9:100978200-100978431	GM12892	blood:	n/a	n/a
28	CTCF	chr9:100978260-100978410	HBMEC	blood vessel:	n/a	n/a
29	ZNF143	chr9:100978176-100978488	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr9:100978240-100978390	NB4	blood:	n/a	n/a
31	CTCF	chr9:100978240-100978390	HCPEpiC	choroid plexus:	n/a	n/a
32	RAD21	chr9:100978137-100978496	HepG2	liver:	n/a	n/a
33	CTCF	chr9:100978240-100978390	GM12872	blood:	n/a	n/a
34	RAD21	chr9:100978066-100978576	HepG2	liver:	n/a	n/a
35	CTCF	chr9:100978280-100978430	K562	blood:	n/a	n/a
36	CTCF	chr9:100978215-100978429	GM19239	blood:	n/a	n/a
37	CTCF	chr9:100978165-100978473	IMR90	lung:	n/a	n/a
38	SMC3	chr9:100978146-100978448	HepG2	liver:	n/a	n/a
39	CTCF	chr9:100978218-100978420	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr9:100978260-100978410	BE2_C	brain:	n/a	n/a
41	CTCF	chr9:100978240-100978390	GM12873	blood:	n/a	n/a
42	CTCF	chr9:100978198-100978451	MCF-7	breast:	n/a	n/a
43	RAD21	chr9:100978187-100978461	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr9:100978300-100978450	GM12871	blood:	n/a	n/a
45	SIN3A	chr9:100978183-100978396	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr9:100978149-100978420	T-47D	breast:	n/a	n/a
47	CTCF	chr9:100978260-100978410	GM12868	blood:	n/a	n/a
48	CTCF	chr9:100978240-100978390	GM12869	blood:	n/a	n/a
49	CTCF	chr9:100978183-100978455	MCF-7	breast:	n/a	n/a
50	CTCF	chr9:100978260-100978410	HUVEC	blood vessel:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100954003..100956582-chr9:100978333..100979918,2	MCF-7	breast:
2	chr9:100976860..100978461-chr9:101017333..101019221,2	MCF-7	breast:
3	chr9:100879928..100882828-chr9:100976182..100978819,2	MCF-7	breast:
4	chr9:100836749..100837370-chr9:100977708..100978725,4	MCF-7	breast:
5	chr9:100852786..100853710-chr9:100978199..100978827,2	MCF-7	breast:
6	chr9:100978228..100978771-chr9:101025810..101026449,2	MCF-7	breast:
7	chr9:100973800..100976121-chr9:100978367..100981348,2	K562	blood:
8	chr9:100978167..100978830-chr9:101017325..101017928,2	MCF-7	breast:
9	chr9:100978261..100978893-chr9:101025777..101026288,2	MCF-7	breast:
10	chr9:100978143..100990074-chr9:101014745..101021064,26	MCF-7	breast:
11	chr9:100969591..100970496-chr9:100977860..100978743,2	MCF-7	breast:
12	chr9:100967682..100968648-chr9:100977741..100978390,3	MCF-7	breast:
13	chr9:100967758..100968676-chr9:100977811..100978768,2	MCF-7	breast:
14	chr9:100818654..100820478-chr9:100976673..100978536,2	MCF-7	breast:
15	chr9:100954026..100955906-chr9:100977446..100979664,3	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D2	TF binding region
ENSG00000095383	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000106785	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7027796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised 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	17 gene(s)	inside rSNPs	diseases
6	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:100956000-100981000	Weak transcription	A549	lung
3	chr9:100958600-100985400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr9:100959600-100984400	Strong transcription	Osteobl	bone
5	chr9:100959800-100985200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr9:100961400-101001400	Weak transcription	Right Atrium	heart
7	chr9:100965600-100982200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:100968000-100987000	Weak transcription	Small Intestine	intestine
9	chr9:100968400-100982200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:100968400-100995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:100968400-100997600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr9:100968600-100985400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:100968600-101010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:100968800-100984600	Weak transcription	K562	blood
15	chr9:100968800-100998000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:100968800-101011000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr9:100969000-100979000	Weak transcription	Fetal Brain Female	brain
18	chr9:100969000-100984800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:100969200-100985600	Strong transcription	Fetal Intestine Small	intestine
20	chr9:100969400-100980600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:100969400-100981000	Strong transcription	Placenta	Placenta
22	chr9:100969400-100981000	Weak transcription	Fetal Thymus	thymus
23	chr9:100969400-101004800	Weak transcription	Brain Germinal Matrix	brain
24	chr9:100969600-100997200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:100969800-100991800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr9:100970000-100985400	Strong transcription	Spleen	Spleen
27	chr9:100970200-101001600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:100970400-100983800	Strong transcription	HSMMtube	muscle
29	chr9:100971200-100981000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:100971200-100981800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:100971200-100985200	Strong transcription	Lung	lung
32	chr9:100971400-100979600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:100971400-100982200	Weak transcription	Ovary	ovary
34	chr9:100971400-100985400	Strong transcription	Fetal Intestine Large	intestine
35	chr9:100971600-100979800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:100971600-100981000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:100971600-100982000	Weak transcription	Pancreas	Pancrea
38	chr9:100972400-100983800	Strong transcription	HSMM	muscle
39	chr9:100973000-100981800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:100973000-100985800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:100973200-100979200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:100973200-100981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:100973600-100980400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr9:100973800-100985400	Weak transcription	Stomach Mucosa	stomach
45	chr9:100974000-100984800	Strong transcription	Esophagus	oesophagus
46	chr9:100974200-100979600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr9:100974600-100981000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr9:100974600-100981400	Weak transcription	Brain Substantia Nigra	brain
49	chr9:100974800-100985200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:100974800-101010600	Weak transcription	Colon Smooth Muscle	Colon

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