Variant report

Variant	rs73460529
Chromosome Location	chr7:137687622-137687623
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	JUN	chr7:137685594-137688107	K562	blood:	n/a	chr7:137687003-137687012 chr7:137686330-137686339 chr7:137685721-137685735 chr7:137687002-137687015
2	NR2F2	chr7:137684528-137687676	K562	blood:	n/a	n/a
3	POLR2A	chr7:137684739-137687816	K562	blood:	n/a	n/a
4	TCF7L2	chr7:137686927-137687650	HEK293	kidney:	n/a	n/a
5	TEAD4	chr7:137686647-137687628	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:137680358-137688132	IMR90	lung:	n/a	n/a
7	NFYA	chr7:137686225-137687632	Hela-S3	cervix:	n/a	chr7:137687140-137687150
8	CTCF	chr7:137685929-137687829	SK-N-SH	brain:	n/a	chr7:137687230-137687248 chr7:137687231-137687247
9	MAZ	chr7:137686129-137687767	Hela-S3	cervix:	n/a	chr7:137686951-137686961 chr7:137686969-137686978 chr7:137687732-137687741
10	MAZ	chr7:137684655-137687902	K562	blood:	n/a	chr7:137686951-137686961 chr7:137686969-137686978 chr7:137687732-137687741
11	NFYB	chr7:137686232-137687639	GM12878	blood:	n/a	chr7:137687140-137687150
12	MYC	chr7:137684667-137687957	K562	blood:	n/a	chr7:137686951-137686961 chr7:137686969-137686978 chr7:137687732-137687741
13	TEAD4	chr7:137686520-137687686	K562	blood:	n/a	n/a
14	MAZ	chr7:137682562-137687687	IMR90	lung:	n/a	chr7:137686951-137686961 chr7:137686969-137686978 chr7:137682763-137682772
15	TBP	chr7:137686494-137687680	H1-hESC	embryonic stem cell:	n/a	n/a
16	ARID3A	chr7:137686780-137687658	K562	blood:	n/a	n/a
17	RFX5	chr7:137685761-137687657	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr7:137682904-137687728	IMR90	lung:	n/a	n/a
19	MAX	chr7:137687615-137687902	K562	blood:	n/a	chr7:137687732-137687741
20	EP300	chr7:137686547-137687800	K562	blood:	n/a	chr7:137686837-137686853
21	BHLHE40	chr7:137686065-137687894	K562	blood:	n/a	n/a
22	CHD1	chr7:137680307-137687791	IMR90	lung:	n/a	n/a
23	TRIM28	chr7:137686120-137687640	K562	blood:	n/a	n/a
24	RAD21	chr7:137683968-137688136	SK-N-SH	brain:	n/a	n/a
25	USF1	chr7:137687610-137687809	H1-hESC	embryonic stem cell:	n/a	n/a
26	TEAD4	chr7:137684241-137687798	K562	blood:	n/a	chr7:137684614-137684623
27	CTCF	chr7:137687520-137687670	GM12864	blood:	n/a	n/a
28	TBP	chr7:137684787-137687887	K562	blood:	n/a	n/a
29	CTCF	chr7:137686388-137687705	A549	lung:	n/a	chr7:137687230-137687248 chr7:137687231-137687247
30	CBX3	chr7:137685947-137687745	K562	blood:	n/a	n/a
31	NFYA	chr7:137686358-137687647	K562	blood:	n/a	chr7:137687140-137687150
32	CTCF	chr7:137687600-137687750	NHDF-neo	bronchial:	n/a	n/a
33	ARID3A	chr7:137686862-137687653	HepG2	liver:	n/a	n/a
34	MXI1	chr7:137682524-137687800	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11981732..11982258-chr7:137687279..137688011,2	Hela-S3	cervix:
2	chr7:137611854..137613484-chr7:137685563..137687785,2	K562	blood:
3	chr7:137643171..137645975-chr7:137687593..137689334,2	K562	blood:
4	chr7:137636438..137645214-chr7:137681826..137688964,19	MCF-7	breast:
5	chr7:135346934..135350553-chr7:137685034..137688102,3	K562	blood:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000212303	Chromatin interaction
ENSG00000243317	Chromatin interaction
ENSG00000237243	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60284161	1.00[AMR][1000 genomes]
rs60319857	1.00[AMR][1000 genomes]
rs73460535	1.00[AMR][1000 genomes]
rs73460538	1.00[AMR][1000 genomes]
rs73729548	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137685200-137687800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:137686800-137693400	Weak transcription	Aorta	Aorta
3	chr7:137686800-137693400	Weak transcription	Fetal Heart	heart
4	chr7:137687000-137687800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:137687000-137688000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:137687000-137689000	Weak transcription	NHDF-Ad	bronchial
7	chr7:137687000-137689200	Weak transcription	Spleen	Spleen
8	chr7:137687000-137690800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:137687000-137693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:137687000-137693400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:137687000-137693400	Weak transcription	Right Atrium	heart
12	chr7:137687000-137700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:137687200-137687800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:137687200-137687800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:137687200-137687800	Enhancers	Fetal Stomach	stomach
16	chr7:137687200-137687800	Enhancers	NHLF	lung
17	chr7:137687200-137688000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:137687200-137688000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:137687400-137687800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:137687400-137687800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:137687400-137687800	Enhancers	Adipose Nuclei	Adipose
22	chr7:137687400-137687800	Enhancers	Liver	Liver
23	chr7:137687400-137687800	Enhancers	Brain Hippocampus Middle	brain
24	chr7:137687400-137687800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:137687400-137687800	Flanking Active TSS	HepG2	liver
26	chr7:137687400-137687800	Flanking Active TSS	K562	blood
27	chr7:137687400-137687800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr7:137687400-137688000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr7:137687400-137688000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:137687600-137687800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:137687600-137687800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:137687600-137687800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:137687600-137687800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:137687600-137687800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:137687600-137687800	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr7:137687600-137687800	Enhancers	Primary B cells from cord blood	blood
37	chr7:137687600-137687800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr7:137687600-137687800	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:137687600-137687800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:137687600-137687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:137687600-137687800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:137687600-137687800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr7:137687600-137687800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:137687600-137687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:137687600-137687800	Enhancers	Brain Anterior Caudate	brain
46	chr7:137687600-137687800	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:137687600-137687800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr7:137687600-137687800	Enhancers	Lung	lung
49	chr7:137687600-137687800	Enhancers	A549	lung
50	chr7:137687600-137687800	Enhancers	Hela-S3	cervix

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