Variant report

Variant	rs73456347
Chromosome Location	chr7:137620567-137620568
allele	A/G
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	JUND	chr7:137620148-137620905	K562	blood:	n/a	n/a
2	UBTF	chr7:137620535-137620892	K562	blood:	n/a	n/a
3	MYC	chr7:137620540-137621140	NB4	blood:	n/a	n/a
4	TBL1XR1	chr7:137619615-137620988	K562	blood:	n/a	n/a
5	MAX	chr7:137620558-137621403	NB4	blood:	n/a	n/a
6	GATA1	chr7:137619171-137620653	PBDE	blood:	n/a	chr7:137619736-137619747 chr7:137620297-137620318
7	ELF1	chr7:137620564-137620959	K562	blood:	n/a	n/a
8	RCOR1	chr7:137620171-137621018	K562	blood:	n/a	n/a
9	NR2F2	chr7:137620067-137621286	K562	blood:	n/a	chr7:137620735-137620750
10	CTCF	chr7:137620321-137620886	K562	blood:	n/a	n/a
11	HCFC1	chr7:137620504-137621123	K562	blood:	n/a	n/a
12	EP300	chr7:137619880-137620937	K562	blood:	n/a	chr7:137620708-137620717
13	NFIC	chr7:137619849-137620930	GM12878	blood:	n/a	n/a
14	MYC	chr7:137620218-137620935	K562	blood:	n/a	n/a
15	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
16	ARID3A	chr7:137619752-137620719	K562	blood:	n/a	n/a
17	POLR2A	chr7:137620402-137621255	HL-60	blood:	n/a	n/a
18	SPI1	chr7:137620475-137620989	HL-60	blood:	n/a	chr7:137620707-137620720
19	CHD1	chr7:137620165-137620982	GM12878	blood:	n/a	n/a
20	NR2F2	chr7:137620514-137620931	K562	blood:	n/a	chr7:137620735-137620750
21	NFIC	chr7:137619852-137620794	GM12878	blood:	n/a	n/a
22	RUNX3	chr7:137620554-137620881	GM12878	blood:	n/a	n/a
23	TEAD4	chr7:137620131-137621262	K562	blood:	n/a	n/a
24	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
25	POLR2A	chr7:137617304-137621222	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:137620160..137621730-chr7:137691300..137693565,2	MCF-7	breast:
2	chr7:137619246..137622854-chr7:137682713..137686861,5	K562	blood:
3	chr7:137619156..137621856-chr7:137650615..137653310,2	MCF-7	breast:
4	chr7:137620440..137622660-chr7:137629916..137631573,2	MCF-7	breast:
5	chr7:137620168..137621846-chr7:137623700..137626526,2	K562	blood:
6	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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10242255	0.84[ASN][1000 genomes]
rs10272604	0.84[ASN][1000 genomes]
rs28663485	1.00[ASN][1000 genomes]
rs57385695	1.00[ASN][1000 genomes]
rs60078042	0.84[ASN][1000 genomes]
rs73456340	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73456358	0.84[ASN][1000 genomes]
rs7808800	0.84[ASN][1000 genomes]
rs9986783	0.84[ASN][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	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:137613200-137621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:137613600-137620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:137614200-137620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:137614800-137621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
9	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
10	chr7:137616200-137622200	Enhancers	Fetal Intestine Large	intestine
11	chr7:137617000-137620600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:137617000-137622200	Enhancers	Small Intestine	intestine
13	chr7:137617000-137622400	Enhancers	Colon Smooth Muscle	Colon
14	chr7:137617200-137622200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:137617400-137622200	Enhancers	Fetal Heart	heart
17	chr7:137617400-137622200	Enhancers	HSMM	muscle
18	chr7:137617400-137622400	Enhancers	Fetal Muscle Leg	muscle
19	chr7:137617600-137621200	Genic enhancers	HepG2	liver
20	chr7:137617600-137622200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:137617600-137622200	Enhancers	Brain Anterior Caudate	brain
22	chr7:137618200-137620800	Weak transcription	Stomach Mucosa	stomach
23	chr7:137618200-137621000	Weak transcription	Liver	Liver
24	chr7:137618200-137621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:137618200-137621400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:137618200-137622400	Enhancers	HMEC	breast
27	chr7:137618200-137622600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:137618200-137622600	Enhancers	Osteobl	bone
29	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:137618400-137621000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:137618400-137622000	Enhancers	Fetal Thymus	thymus
32	chr7:137618400-137622400	Enhancers	NHLF	lung
33	chr7:137618600-137620600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:137618600-137620600	Weak transcription	Fetal Kidney	kidney
35	chr7:137618600-137621000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:137618600-137621400	Flanking Active TSS	GM12878-XiMat	blood
37	chr7:137618600-137627600	Weak transcription	A549	lung
38	chr7:137618600-137628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:137618800-137620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:137618800-137620600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:137618800-137620600	Weak transcription	Fetal Stomach	stomach
42	chr7:137618800-137620600	Weak transcription	HSMMtube	muscle
43	chr7:137618800-137620800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:137618800-137621000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:137618800-137621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:137618800-137621200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:137618800-137621400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:137618800-137622400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:137618800-137622400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr7:137619000-137620600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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