Variant report

Variant	rs9949632
Chromosome Location	chr18:9736799-9736800
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	NFIC	chr18:9736753-9738325	ECC-1	luminal epithelium:	n/a	chr18:9737966-9737983
2	TCF7L2	chr18:9736660-9737322	PANC-1	pancreas:	n/a	chr18:9737094-9737103
3	NFIC	chr18:9736787-9738182	SK-N-SH	brain:	n/a	chr18:9737966-9737983
4	JUND	chr18:9736763-9737908	HCT-116	colon:	n/a	chr18:9737165-9737174 chr18:9737094-9737104 chr18:9737093-9737104 chr18:9737095-9737103 chr18:9737094-9737104 chr18:9737094-9737104
5	GATA3	chr18:9736782-9737426	A549	lung:	n/a	n/a
6	SP1	chr18:9736652-9737945	HCT-116	colon:	n/a	chr18:9737860-9737874 chr18:9737860-9737870 chr18:9737861-9737870
7	SP1	chr18:9736773-9737829	HCT-116	colon:	n/a	n/a
8	GATA3	chr18:9736787-9737812	SK-N-SH	brain:	n/a	n/a
9	MXI1	chr18:9736517-9738480	SK-N-SH	brain:	n/a	chr18:9738007-9738022
10	TCF12	chr18:9736795-9737982	SK-N-SH	brain:	n/a	chr18:9737660-9737667

No.	Distal block	Cell Line	Cell type
1	chr18:9729977..9732363-chr18:9736076..9738705,2	MCF-7	breast:
2	chr18:9734405..9736232-chr18:9736373..9737976,2	MCF-7	breast:
3	chr18:9729801..9734726-chr18:9735904..9739407,5	K562	blood:
4	chr18:9707662..9708407-chr18:9736174..9736900,2	MCF-7	breast:
5	chr18:9733101..9737818-chr18:9912631..9916013,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266891	TF binding region
ENSG00000101558	Chromatin interaction
ENSG00000266891	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1023869	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1023870	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1116700	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1455585	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2045230	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2045231	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2045233	0.88[ASN][1000 genomes]
rs2864780	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4798836	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4798837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4798844	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6506686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8084104	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8086347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8087630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8088290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9720000-9737400	Weak transcription	Brain Anterior Caudate	brain
2	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr18:9720800-9737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9721000-9741600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:9721200-9737200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:9721800-9737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:9724000-9737200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr18:9725000-9737600	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:9731400-9737200	Weak transcription	HSMM	muscle
10	chr18:9732000-9737000	Weak transcription	NH-A	brain
11	chr18:9732600-9741600	Weak transcription	Ovary	ovary
12	chr18:9732800-9740800	Weak transcription	Adipose Nuclei	Adipose
13	chr18:9732800-9741600	Weak transcription	Colon Smooth Muscle	Colon
14	chr18:9733000-9742000	Weak transcription	Aorta	Aorta
15	chr18:9733000-9743600	Weak transcription	Gastric	stomach
16	chr18:9733200-9737200	Weak transcription	Brain Substantia Nigra	brain
17	chr18:9733400-9736800	Weak transcription	Osteobl	bone
18	chr18:9733600-9736800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:9733600-9737000	Weak transcription	Right Ventricle	heart
20	chr18:9733800-9737200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:9733800-9737200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:9733800-9737200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:9733800-9737200	Weak transcription	HSMMtube	muscle
24	chr18:9733800-9742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr18:9734000-9737200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr18:9734400-9741600	Weak transcription	Right Atrium	heart
27	chr18:9734400-9741800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:9734400-9741800	Weak transcription	Fetal Lung	lung
29	chr18:9734600-9736800	Weak transcription	HUVEC	blood vessel
30	chr18:9734600-9736800	Weak transcription	NHEK	skin
31	chr18:9734600-9737000	Weak transcription	K562	blood
32	chr18:9734600-9737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:9734600-9737200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:9734600-9737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:9734600-9737600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:9734600-9738000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr18:9734600-9739600	Weak transcription	Esophagus	oesophagus
38	chr18:9734600-9741600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr18:9734600-9741600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:9734600-9741600	Weak transcription	Spleen	Spleen
41	chr18:9734600-9741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr18:9734800-9737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:9734800-9737200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr18:9734800-9741400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr18:9734800-9742000	Weak transcription	Stomach Mucosa	stomach
46	chr18:9734800-9742200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr18:9735000-9737400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:9735000-9741600	Weak transcription	Colonic Mucosa	Colon
49	chr18:9735400-9740400	Genic enhancers	Hela-S3	cervix
50	chr18:9735600-9737000	Enhancers	A549	lung

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