Variant report

Variant	rs73729527
Chromosome Location	chr7:137620083-137620084
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	TBL1XR1	chr7:137619615-137620988	K562	blood:	n/a	n/a
2	GATA1	chr7:137619171-137620653	PBDE	blood:	n/a	chr7:137619736-137619747 chr7:137620297-137620318
3	NR2F2	chr7:137620067-137621286	K562	blood:	n/a	chr7:137620735-137620750
4	EBF1	chr7:137620053-137620088	GM12878	blood:	n/a	n/a
5	MXI1	chr7:137619974-137620383	GM12878	blood:	n/a	n/a
6	EP300	chr7:137619880-137620937	K562	blood:	n/a	chr7:137620708-137620717
7	BHLHE40	chr7:137619990-137620338	GM12878	blood:	n/a	n/a
8	BATF	chr7:137619972-137620251	GM12878	blood:	n/a	n/a
9	SPI1	chr7:137620053-137620389	GM12891	blood:	n/a	n/a
10	NFIC	chr7:137619849-137620930	GM12878	blood:	n/a	n/a
11	RUNX3	chr7:137619765-137620385	GM12878	blood:	n/a	n/a
12	IRF1	chr7:137618870-137620870	K562	blood:	n/a	chr7:137620102-137620116 chr7:137620105-137620118 chr7:137620106-137620116 chr7:137619175-137619185 chr7:137620105-137620116 chr7:137620106-137620120 chr7:137620105-137620118 chr7:137620105-137620118 chr7:137620636-137620648 chr7:137620104-137620115 chr7:137619173-137619186 chr7:137620100-137620117 chr7:137619175-137619186
13	ARID3A	chr7:137619752-137620719	K562	blood:	n/a	n/a
14	EP300	chr7:137619919-137620319	GM12878	blood:	n/a	n/a
15	EP300	chr7:137619858-137620417	GM12878	blood:	n/a	n/a
16	ATF2	chr7:137619868-137620526	GM12878	blood:	n/a	n/a
17	ZNF143	chr7:137619911-137620279	GM12878	blood:	n/a	n/a
18	RCOR1	chr7:137620009-137620332	GM12878	blood:	n/a	n/a
19	BATF	chr7:137620006-137620312	GM12878	blood:	n/a	n/a
20	SPI1	chr7:137620044-137620314	GM12878	blood:	n/a	n/a
21	NFIC	chr7:137619852-137620794	GM12878	blood:	n/a	n/a
22	MAX	chr7:137619807-137620233	GM12878	blood:	n/a	n/a
23	FOXM1	chr7:137619912-137620405	GM12878	blood:	n/a	n/a
24	EP300	chr7:137620015-137620242	GM12878	blood:	n/a	n/a
25	NFATC1	chr7:137619727-137620320	GM12878	blood:	n/a	n/a
26	CUX1	chr7:137620003-137620462	GM12878	blood:	n/a	n/a
27	NFATC1	chr7:137619635-137620436	GM12878	blood:	n/a	n/a
28	IRF1	chr7:137618919-137620986	K562	blood:	n/a	chr7:137620102-137620116 chr7:137620105-137620118 chr7:137620106-137620116 chr7:137619175-137619185 chr7:137620105-137620116 chr7:137620106-137620120 chr7:137620105-137620118 chr7:137620105-137620118 chr7:137620636-137620648 chr7:137620104-137620115 chr7:137619173-137619186 chr7:137620100-137620117 chr7:137619175-137619186
29	POLR2A	chr7:137617304-137621222	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:137619246..137622854-chr7:137682713..137686861,5	K562	blood:
2	chr7:137619156..137621856-chr7:137650615..137653310,2	MCF-7	breast:
3	chr7:137619037..137621217-chr7:137637185..137638746,2	MCF-7	breast:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000237243	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10229718	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10254813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10257051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10274570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17169455	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56384334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73729525	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73729526	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9656495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137588800-137620200	Weak transcription	Dnd41	blood
2	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
5	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:137613200-137621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:137613400-137620200	Enhancers	Placenta	Placenta
8	chr7:137613600-137620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:137614200-137620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:137614800-137621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
12	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
13	chr7:137616200-137622200	Enhancers	Fetal Intestine Large	intestine
14	chr7:137617000-137620600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:137617000-137622200	Enhancers	Small Intestine	intestine
16	chr7:137617000-137622400	Enhancers	Colon Smooth Muscle	Colon
17	chr7:137617200-137620200	Enhancers	Aorta	Aorta
18	chr7:137617200-137622200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:137617400-137622200	Enhancers	Fetal Heart	heart
21	chr7:137617400-137622200	Enhancers	HSMM	muscle
22	chr7:137617400-137622400	Enhancers	Fetal Muscle Leg	muscle
23	chr7:137617600-137621200	Genic enhancers	HepG2	liver
24	chr7:137617600-137622200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:137617600-137622200	Enhancers	Brain Anterior Caudate	brain
26	chr7:137618200-137620800	Weak transcription	Stomach Mucosa	stomach
27	chr7:137618200-137621000	Weak transcription	Liver	Liver
28	chr7:137618200-137621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:137618200-137621400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:137618200-137622400	Enhancers	HMEC	breast
31	chr7:137618200-137622600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:137618200-137622600	Enhancers	Osteobl	bone
33	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:137618400-137620200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:137618400-137620200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:137618400-137620200	Enhancers	NHDF-Ad	bronchial
37	chr7:137618400-137621000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:137618400-137622000	Enhancers	Fetal Thymus	thymus
39	chr7:137618400-137622400	Enhancers	NHLF	lung
40	chr7:137618600-137620600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:137618600-137620600	Weak transcription	Fetal Kidney	kidney
42	chr7:137618600-137621000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:137618600-137621400	Flanking Active TSS	GM12878-XiMat	blood
44	chr7:137618600-137627600	Weak transcription	A549	lung
45	chr7:137618600-137628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:137618800-137620200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:137618800-137620200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:137618800-137620400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:137618800-137620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:137618800-137620600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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