Variant report

Variant	rs73191607
Chromosome Location	chr7:107301390-107301391
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	CTCF	chr7:107301340-107301490	AG04449	skin:	n/a	n/a
2	REST	chr7:107301384-107302182	A549	lung:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
3	REST	chr7:107301271-107302430	ECC-1	luminal epithelium:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
4	CTCF	chr7:107301380-107301530	HCPEpiC	choroid plexus:	n/a	n/a
5	TEAD4	chr7:107301309-107301754	H1-hESC	embryonic stem cell:	n/a	chr7:107301530-107301539
6	SIN3A	chr7:107301212-107302390	H1-hESC	embryonic stem cell:	n/a	chr7:107301630-107301639 chr7:107301523-107301531
7	CEBPB	chr7:107301357-107301654	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr7:107301358-107302383	HL-60	blood:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
9	CTCF	chr7:107301240-107301390	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr7:107301340-107301490	GM12867	blood:	n/a	n/a
11	CTCF	chr7:107301340-107301490	HRE	kidney:	n/a	n/a
12	REST	chr7:107301285-107302315	ECC-1	luminal epithelium:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
13	CTCF	chr7:107301300-107301450	HAc	cerebellar:	n/a	n/a
14	CTCF	chr7:107301345-107301431	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr7:107301091-107302485	HL-60	blood:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
16	CTCF	chr7:107301360-107301510	HPAF	blood vessel:	n/a	n/a
17	REST	chr7:107301337-107302280	HepG2	liver:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
18	CTCF	chr7:107301260-107301410	HMF	breast:	n/a	n/a
19	CTCF	chr7:107301380-107301530	HepG2	liver:	n/a	n/a
20	REST	chr7:107301311-107302290	H1-hESC	embryonic stem cell:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
21	REST	chr7:107301350-107302372	SK-N-SH	brain:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
22	CTCF	chr7:107301380-107301530	GM12874	blood:	n/a	n/a
23	MAX	chr7:107301365-107302451	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTBP2	chr7:107301001-107302749	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr7:107300928-107302475	H1-neurons	neurons:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
26	CTCF	chr7:107301380-107301530	SK-N-SH_RA	brain:	n/a	n/a
27	TEAD4	chr7:107301283-107301829	H1-hESC	embryonic stem cell:	n/a	chr7:107301530-107301539
28	REST	chr7:107301378-107302425	PFSK-1	brain:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
29	REST	chr7:107301189-107302157	H1-hESC	embryonic stem cell:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578
30	REST	chr7:107301363-107302313	PFSK-1	brain:	n/a	chr7:107301707-107301720 chr7:107301643-107301656 chr7:107301517-107301530 chr7:107301558-107301578

Variant related genes	Relation type
SLC26A4	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs59491009	0.90[EUR][1000 genomes]
rs59542667	0.97[EUR][1000 genomes]
rs59650878	0.97[EUR][1000 genomes]
rs6945787	0.86[EUR][1000 genomes]
rs6957510	0.81[EUR][1000 genomes]
rs73189572	0.81[EUR][1000 genomes]
rs73189576	0.81[EUR][1000 genomes]
rs73189577	0.81[EUR][1000 genomes]
rs73189582	0.95[EUR][1000 genomes]
rs73189583	0.97[EUR][1000 genomes]
rs73189586	0.97[EUR][1000 genomes]
rs73189592	0.97[EUR][1000 genomes]
rs73189594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189601	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189602	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191605	1.00[EUR][1000 genomes]
rs73191606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191610	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7789746	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790596	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7790876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791196	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7802519	0.81[EUR][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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107299400-107301800	Enhancers	Dnd41	blood
2	chr7:107300200-107301400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:107300200-107301600	Bivalent Enhancer	Fetal Thymus	thymus
4	chr7:107300600-107301400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:107300600-107302400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:107300600-107302800	Enhancers	Spleen	Spleen
7	chr7:107300800-107301400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:107300800-107301400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:107300800-107301400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr7:107300800-107301400	Bivalent Enhancer	Fetal Stomach	stomach
11	chr7:107300800-107301600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:107300800-107301800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
13	chr7:107300800-107301800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr7:107300800-107302200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:107300800-107302600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:107300800-107302600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
17	chr7:107300800-107302800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr7:107300800-107302800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:107300800-107302800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:107300800-107302800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:107300800-107302800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:107301000-107301400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:107301000-107301400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:107301000-107301400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:107301000-107301400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:107301000-107301400	Enhancers	Liver	Liver
27	chr7:107301000-107301400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
28	chr7:107301000-107301400	Active TSS	Right Atrium	heart
29	chr7:107301000-107301600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
30	chr7:107301000-107301600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
31	chr7:107301000-107301600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr7:107301000-107301600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr7:107301000-107301600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr7:107301000-107301800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
35	chr7:107301000-107301800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:107301000-107301800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr7:107301000-107301800	Flanking Bivalent TSS/Enh	NHEK	skin
38	chr7:107301000-107301800	Flanking Bivalent TSS/Enh	Osteobl	bone
39	chr7:107301000-107302000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr7:107301000-107302000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:107301000-107302000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:107301000-107302000	Bivalent Enhancer	Fetal Lung	lung
43	chr7:107301000-107302200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr7:107301000-107302400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:107301000-107302400	Bivalent/Poised TSS	HepG2	liver
46	chr7:107301000-107302600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:107301000-107302600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr7:107301000-107302600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr7:107301000-107302600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr7:107301000-107302600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood

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