Variant report

Variant	rs4773180
Chromosome Location	chr13:111062015-111062016
allele	G/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	RAD21	chr13:111061762-111062184	IMR90	lung:	n/a	n/a
2	MAFK	chr13:111061881-111062151	IMR90	lung:	n/a	n/a
3	POLR2A	chr13:111061826-111062306	U87	brain:	n/a	n/a
4	FOS	chr13:111061970-111062067	MCF10A-Er-Src	breast:	n/a	chr13:111061990-111062000 chr13:111061990-111062000 chr13:111061991-111061999 chr13:111061989-111062000 chr13:111061990-111062000
5	EP300	chr13:111061867-111062243	SK-N-SH_RA	brain:	n/a	n/a
6	POLR2A	chr13:111061791-111062428	HUVEC	blood vessel:	n/a	n/a
7	TCF12	chr13:111061677-111062443	SK-N-SH	brain:	n/a	chr13:111061986-111061993
8	JUN	chr13:111061762-111062318	HUVEC	blood vessel:	n/a	chr13:111062290-111062299 chr13:111061990-111062000 chr13:111061990-111062000 chr13:111061991-111061999 chr13:111061990-111062000
9	POLR2A	chr13:111061916-111062835	HUVEC	blood vessel:	n/a	n/a
10	FOSL2	chr13:111061672-111062250	SK-N-SH	brain:	n/a	chr13:111061990-111062000 chr13:111061990-111062000 chr13:111061991-111061999 chr13:111061990-111062000
11	RAD21	chr13:111061843-111062126	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr13:111061808-111062261	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr13:111061764-111062332	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr13:111061675-111062468	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr13:111061664-111063139	HUVEC	blood vessel:	n/a	n/a
16	SMC3	chr13:111061789-111062020	Hela-S3	cervix:	n/a	n/a
17	FOS	chr13:111061818-111062128	MCF10A-Er-Src	breast:	n/a	chr13:111061990-111062000 chr13:111061990-111062000 chr13:111061991-111061999 chr13:111061989-111062000 chr13:111061990-111062000
18	EP300	chr13:111061823-111062253	SK-N-SH_RA	brain:	n/a	n/a
19	GTF2F1	chr13:111061775-111062095	Hela-S3	cervix:	n/a	n/a
20	GATA3	chr13:111061727-111062404	SK-N-SH	brain:	n/a	n/a
21	FOS	chr13:111061973-111062018	MCF10A-Er-Src	breast:	n/a	chr13:111061990-111062000 chr13:111061990-111062000 chr13:111061991-111061999 chr13:111061989-111062000 chr13:111061990-111062000
22	MYC	chr13:111061832-111062324	HUVEC	blood vessel:	n/a	n/a
23	JUND	chr13:111061668-111062367	SK-N-SH	brain:	n/a	chr13:111062290-111062299 chr13:111061990-111062000 chr13:111061990-111062000 chr13:111061991-111061999 chr13:111061990-111062000
24	POLR2A	chr13:111061278-111062563	HUVEC	blood vessel:	n/a	n/a
25	GATA2	chr13:111061857-111062347	HUVEC	blood vessel:	n/a	n/a
26	EP300	chr13:111061659-111062439	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr13:111061871-111062306	U87	brain:	n/a	n/a
28	PBX3	chr13:111061744-111062396	SK-N-SH	brain:	n/a	n/a
29	JUND	chr13:111061682-111062308	SK-N-SH	brain:	n/a	chr13:111062290-111062299 chr13:111061990-111062000 chr13:111061990-111062000 chr13:111061991-111061999 chr13:111061990-111062000
30	POLR2A	chr13:111061684-111062809	HUVEC	blood vessel:	n/a	n/a
31	MAFK	chr13:111061865-111062107	Hela-S3	cervix:	n/a	n/a
32	FOS	chr13:111061753-111062249	HUVEC	blood vessel:	n/a	chr13:111061990-111062000 chr13:111061990-111062000 chr13:111061991-111061999 chr13:111061989-111062000 chr13:111061990-111062000

Variant related genes	Relation type
ENSG00000238629	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1536622	0.90[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs4132949	0.83[JPT][hapmap]
rs4555010	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61963204	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9555696	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9559789	0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9559790	0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9559791	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9559792	0.91[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9559793	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9559794	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3354806	chr13:111059151-111063549	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
3	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
5	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:111056200-111066000	Enhancers	Lung	lung
7	chr13:111057800-111064800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr13:111057800-111070400	Enhancers	Right Atrium	heart
9	chr13:111058000-111066000	Enhancers	HUVEC	blood vessel
10	chr13:111058200-111062200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:111058400-111062400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr13:111058400-111062800	Strong transcription	Fetal Intestine Small	intestine
13	chr13:111058800-111063600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:111058800-111063800	Weak transcription	Small Intestine	intestine
15	chr13:111058800-111064200	Weak transcription	Fetal Intestine Large	intestine
16	chr13:111059000-111063200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:111059200-111063600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:111059400-111062600	Genic enhancers	Fetal Muscle Leg	muscle
19	chr13:111059400-111063800	Genic enhancers	Fetal Stomach	stomach
20	chr13:111059400-111065200	Enhancers	Spleen	Spleen
21	chr13:111059400-111067000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:111059600-111064200	Genic enhancers	Osteobl	bone
23	chr13:111059600-111064400	Enhancers	Aorta	Aorta
24	chr13:111059800-111064800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:111059800-111065200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:111060200-111062400	Weak transcription	Ovary	ovary
27	chr13:111060200-111062600	Weak transcription	Gastric	stomach
28	chr13:111060200-111063400	Weak transcription	Brain Substantia Nigra	brain
29	chr13:111060200-111063600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:111060200-111064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr13:111060200-111064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr13:111060200-111064200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr13:111060200-111064400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:111060200-111064400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:111060200-111065200	Enhancers	HMEC	breast
36	chr13:111060200-111065600	Weak transcription	Esophagus	oesophagus
37	chr13:111060200-111067000	Enhancers	Right Ventricle	heart
38	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr13:111060400-111064000	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:111060400-111064200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr13:111060400-111064400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:111060400-111064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr13:111060800-111063200	Enhancers	Hela-S3	cervix
44	chr13:111060800-111063600	Weak transcription	A549	lung
45	chr13:111060800-111064000	Weak transcription	NHEK	skin
46	chr13:111061000-111065600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:111061200-111063400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:111061200-111063600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:111061200-111064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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