Variant report

Variant	rs73711444
Chromosome Location	chr7:98477864-98477865
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	RUNX3	chr7:98477140-98477920	GM12878	blood:	n/a	n/a
2	CTCF	chr7:98474929-98477868	SK-N-SH	brain:	n/a	chr7:98476232-98476245 chr7:98476099-98476112 chr7:98476407-98476416 chr7:98476096-98476114
3	TCF3	chr7:98477351-98477881	GM12878	blood:	n/a	chr7:98477374-98477388 chr7:98477625-98477635 chr7:98477541-98477556
4	GABPA	chr7:98476763-98477885	MCF-7	breast:	n/a	n/a
5	RUNX3	chr7:98477208-98477900	GM12878	blood:	n/a	n/a
6	ZNF384	chr7:98477381-98477869	K562	blood:	n/a	n/a
7	ZNF384	chr7:98477472-98477881	GM12878	blood:	n/a	n/a
8	SRF	chr7:98477218-98477874	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:98475477-98477871	K562	blood:	n/a	n/a
10	SIN3AK20	chr7:98476286-98477883	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98461246..98463791-chr7:98476120..98478265,2	K562	blood:
2	chr7:98474512..98479039-chr7:98480713..98484899,10	K562	blood:

Variant related genes	Relation type
TRRAP	TF binding region
MIR3609	TF binding region
ENSG00000238459	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34983214	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57039156	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73711446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73711456	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73711457	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73711459	0.88[AFR][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	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98475800-98478200	Active TSS	GM12878-XiMat	blood
2	chr7:98476800-98478000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr7:98476800-98478000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr7:98476800-98478200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr7:98476800-98478400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:98477000-98478000	Flanking Active TSS	Colonic Mucosa	Colon
7	chr7:98477000-98478000	Flanking Active TSS	Fetal Thymus	thymus
8	chr7:98477000-98478000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:98477000-98478000	Flanking Active TSS	HMEC	breast
10	chr7:98477000-98478200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr7:98477000-98478200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr7:98477000-98478200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr7:98477000-98478200	Flanking Active TSS	Dnd41	blood
14	chr7:98477200-98478000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr7:98477400-98478000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:98477400-98478000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:98477400-98478000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:98477400-98478200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr7:98477400-98479800	Weak transcription	Aorta	Aorta
20	chr7:98477400-98480400	Weak transcription	Ovary	ovary
21	chr7:98477600-98478000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:98477600-98478000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:98477600-98478000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr7:98477600-98478000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr7:98477600-98478000	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr7:98477600-98478000	Enhancers	Placenta	Placenta
27	chr7:98477600-98478000	Flanking Active TSS	Pancreas	Pancrea
28	chr7:98477600-98478000	Active TSS	Thymus	Thymus
29	chr7:98477600-98478000	Flanking Active TSS	HepG2	liver
30	chr7:98477600-98478200	Enhancers	Fetal Brain Male	brain
31	chr7:98477600-98478800	Weak transcription	Fetal Stomach	stomach
32	chr7:98477800-98478000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:98477800-98478000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:98477800-98478000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:98477800-98478000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:98477800-98478000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:98477800-98478000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:98477800-98478000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:98477800-98478000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:98477800-98478000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:98477800-98478000	Enhancers	Adipose Nuclei	Adipose
42	chr7:98477800-98478000	Enhancers	Brain Substantia Nigra	brain
43	chr7:98477800-98478000	Active TSS	Duodenum Mucosa	Duodenum
44	chr7:98477800-98478000	Enhancers	Fetal Heart	heart
45	chr7:98477800-98478000	Active TSS	Rectal Smooth Muscle	rectum
46	chr7:98477800-98478000	Enhancers	Stomach Smooth Muscle	stomach
47	chr7:98477800-98478000	Active TSS	Hela-S3	cervix
48	chr7:98477800-98478000	Enhancers	HSMMtube	muscle
49	chr7:98477800-98478000	Genic enhancers	K562	blood
50	chr7:98477800-98478000	Enhancers	Monocytes-CD14+_RO01746	blood

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