Variant report

Variant	rs10481639
Chromosome Location	chr9:116103744-116103745
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr9:116103692-116104672	HCT-116	colon:	n/a	n/a
2	POLR2A	chr9:116103716-116103821	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116103587..116106029-chr9:116160047..116164950,6	MCF-7	breast:
2	chr9:116102720..116107904-chr9:116161009..116164019,5	MCF-7	breast:
3	chr9:116100085..116103833-chr9:116137751..116140667,4	MCF-7	breast:
4	chr2:232379204..232382044-chr9:116102991..116105023,2	MCF-7	breast:
5	chr9:116099899..116105558-chr9:116170913..116174361,7	MCF-7	breast:
6	chr9:116103291..116106183-chr9:116133139..116134993,2	K562	blood:
7	chr9:116063977..116066911-chr9:116102342..116104616,4	MCF-7	breast:
8	chr9:116063284..116065510-chr9:116102338..116105750,4	MCF-7	breast:
9	chr9:116101294..116104058-chr9:116110419..116112658,2	K562	blood:
10	chr9:116102456..116104363-chr9:116171276..116174227,4	MCF-7	breast:
11	chr9:116036149..116038435-chr9:116101107..116104521,3	K562	blood:
12	chr9:116035986..116039204-chr9:116098421..116104240,5	MCF-7	breast:

No data

Variant related genes	Relation type
WDR31	TF binding region
ENSG00000176386	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000148218	Chromatin interaction
ENSG00000119431	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000165188	Chromatin interaction
ENSG00000119411	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10481674	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10817480	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981726	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10981731	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981733	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981740	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981741	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981743	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981745	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981746	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981747	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981748	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981750	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981751	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981760	0.85[EUR][1000 genomes]
rs12006029	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337552	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338029	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339382	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344170	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344525	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350131	0.97[AFR][1000 genomes]
rs12351134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351296	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351630	0.93[EUR][1000 genomes]
rs13440199	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1543535	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932583	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932649	0.97[EUR][1000 genomes]
rs17764563	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28495580	0.85[EUR][1000 genomes]
rs28607343	0.85[EUR][1000 genomes]
rs41276795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324980	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4437724	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4442214	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4445296	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560870	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636275	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5012573	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60528957	0.85[EUR][1000 genomes]
rs60849153	1.00[ASN][1000 genomes]
rs66649870	0.85[EUR][1000 genomes]
rs67292897	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025347	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027445	0.93[EUR][1000 genomes]
rs7041782	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863485	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7865438	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875945	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116102000-116103800	Active TSS	Rectal Smooth Muscle	rectum
2	chr9:116102800-116104600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:116102800-116105800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:116103000-116103800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:116103000-116104000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr9:116103000-116104600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr9:116103000-116105600	Weak transcription	Left Ventricle	heart
8	chr9:116103000-116106200	Weak transcription	Esophagus	oesophagus
9	chr9:116103000-116107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:116103000-116111800	Weak transcription	Lung	lung
11	chr9:116103200-116103800	Weak transcription	Hela-S3	cervix
12	chr9:116103200-116104000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:116103200-116104000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr9:116103200-116104200	Enhancers	Primary hematopoietic stem cells	blood
15	chr9:116103200-116104200	Weak transcription	Fetal Thymus	thymus
16	chr9:116103200-116104200	Enhancers	NHEK	skin
17	chr9:116103200-116104600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr9:116103200-116104600	Weak transcription	Psoas Muscle	Psoas
19	chr9:116103200-116104600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr9:116103200-116104800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr9:116103200-116104800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:116103200-116104800	Enhancers	HMEC	breast
23	chr9:116103200-116105000	Weak transcription	Right Ventricle	heart
24	chr9:116103200-116105200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:116103200-116105400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:116103200-116105600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:116103200-116105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:116103200-116105600	Weak transcription	Brain Anterior Caudate	brain
29	chr9:116103200-116105600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:116103200-116105600	Weak transcription	Brain Substantia Nigra	brain
31	chr9:116103200-116105600	Weak transcription	Colon Smooth Muscle	Colon
32	chr9:116103200-116105600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:116103200-116105800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:116103200-116105800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:116103200-116105800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:116103200-116105800	Weak transcription	Fetal Intestine Small	intestine
37	chr9:116103200-116105800	Weak transcription	Fetal Lung	lung
38	chr9:116103200-116105800	Weak transcription	Fetal Muscle Leg	muscle
39	chr9:116103200-116105800	Weak transcription	NHDF-Ad	bronchial
40	chr9:116103200-116106000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:116103200-116106200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:116103200-116106200	Weak transcription	Colonic Mucosa	Colon
43	chr9:116103200-116106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:116103200-116106400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:116103200-116107000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr9:116103200-116107200	Weak transcription	Brain Angular Gyrus	brain
47	chr9:116103200-116107400	Weak transcription	Fetal Intestine Large	intestine
48	chr9:116103200-116108000	Enhancers	Fetal Heart	heart
49	chr9:116103200-116108200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr9:116103200-116108600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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