Variant report

Variant	rs73191606
Chromosome Location	chr7:107300734-107300735
allele	C/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	JUN	chr7:107299220-107301021	K562	blood:	n/a	chr7:107300858-107300870
2	CTCF	chr7:107300540-107300790	NB4	blood:	n/a	n/a
3	CEBPB	chr7:107300065-107300863	IMR90	lung:	n/a	chr7:107300729-107300742 chr7:107300730-107300741 chr7:107300729-107300740
4	CEBPB	chr7:107300702-107300778	K562	blood:	n/a	chr7:107300729-107300742 chr7:107300730-107300741 chr7:107300729-107300740
5	CEBPB	chr7:107300100-107300798	Hela-S3	cervix:	n/a	chr7:107300729-107300742 chr7:107300730-107300741 chr7:107300729-107300740
6	RUNX3	chr7:107300730-107301146	GM12878	blood:	n/a	n/a
7	CEBPB	chr7:107300681-107300881	A549	lung:	n/a	chr7:107300729-107300742 chr7:107300730-107300741 chr7:107300729-107300740
8	CEBPB	chr7:107300615-107300815	HepG2	liver:	n/a	chr7:107300729-107300742 chr7:107300730-107300741 chr7:107300729-107300740
9	BATF	chr7:107300709-107301118	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:107300718-107300768	NB4	blood:	n/a
2	chr7:107300718-107300768	T-47D	breast:	n/a
3	chr7:107300718-107300768	HCM	heart:	n/a
4	chr7:107300718-107300768	Hela-S3	cervix:	n/a
5	chr7:107300718-107300768	GM12878	blood:	n/a
6	chr7:107300718-107300768	SKMC	muscle:	n/a
7	chr7:107300718-107300768	PrEC	prostate:	n/a
8	chr7:107300718-107300768	GM12891	blood:	n/a
9	chr7:107300718-107300768	HCPEpiC	choroid plexus:	n/a
10	chr7:107300718-107300768	GM06990	blood:	n/a
11	chr7:107300718-107300768	Caco-2	colon:	n/a
12	chr7:107300718-107300768	HEK293	kidney:	embryo
13	chr7:107300718-107300768	Jurkat	blood:	n/a
14	chr7:107300718-107300768	IMR90	lung:	fetal
15	chr7:107300718-107300768	H1-hESC	embryonic stem cell:	embryo
16	chr7:107300718-107300768	HCT-116	colon:	n/a
17	chr7:107300718-107300768	Hepatocyte	liver:	n/a
18	chr7:107300718-107300768	ProgFib	skin:	n/a
19	chr7:107300718-107300768	PFSK-1	brain:	n/a
20	chr7:107300718-107300768	AG09319	gingival:	n/a
21	chr7:107300718-107300768	HL-60	blood:	n/a
22	chr7:107300718-107300768	K562	blood:	n/a
23	chr7:107300718-107300768	HNPCEpiC	eye:	n/a
24	chr7:107300718-107300768	SK-N-SH_RA	brain:	n/a
25	chr7:107300718-107300768	NHBE	bronchial:	n/a
26	chr7:107300718-107300768	NH-A	brain:	n/a
27	chr7:107300718-107300768	LNCaP	prostate:	n/a
28	chr7:107300718-107300768	MCF-7	breast:	n/a
29	chr7:107300718-107300768	AG10803	skin:	n/a
30	chr7:107300718-107300768	HCF	heart:	n/a
31	chr7:107300718-107300768	HUVEC	blood vessel:	n/a
32	chr7:107300718-107300768	SK-N-MC	brain:	n/a
33	chr7:107300718-107300768	NHDF-neo	bronchial:	n/a
34	chr7:107300718-107300768	AG04449	skin:	fetal
35	chr7:107300718-107300768	GM12892	blood:	n/a
36	chr7:107300718-107300768	AG09309	skin:	n/a
37	chr7:107300718-107300768	HRCEpiC	kidney:	n/a
38	chr7:107300718-107300768	HAEpiC	amniotic membrane:	n/a
39	chr7:107300718-107300768	PANC-1	pancreas:	n/a
40	chr7:107300718-107300768	HRPEpiC	eye:	n/a
41	chr7:107300718-107300768	AoSMC	blood vessel:	n/a
42	chr7:107300718-107300768	GM19239	blood:	n/a
43	chr7:107300718-107300768	MCF10A-Er-Src	breast:	n/a
44	chr7:107300718-107300768	BE2_C	brain:	n/a
45	chr7:107300718-107300768	NT2-D1	testis:	n/a
46	chr7:107300718-107300768	BJ	skin:	n/a
47	chr7:107300718-107300768	ovcar-3	ovarian:	n/a
48	chr7:107300718-107300768	AG04450	lung:	fetal
49	chr7:107300718-107300768	RPTEC	kidney:	n/a
50	chr7:107300718-107300768	U87	brain:	n/a

Variant related genes	Relation type
SLC26A4	TF binding region
SLC26A4	CpG island

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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191605	1.00[EUR][1000 genomes]
rs73191607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7789746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790596	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7790876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791196	0.94[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107298600-107300800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:107299200-107301200	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr7:107299400-107301800	Enhancers	Dnd41	blood
4	chr7:107299800-107301000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:107299800-107301200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:107299800-107301200	Enhancers	K562	blood
7	chr7:107300000-107300800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:107300000-107300800	Bivalent Enhancer	GM12878-XiMat	blood
9	chr7:107300000-107300800	Enhancers	NH-A	brain
10	chr7:107300000-107301200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:107300000-107301200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:107300200-107300800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:107300200-107301000	Bivalent Enhancer	Primary B cells from cord blood	blood
14	chr7:107300200-107301000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr7:107300200-107301000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:107300200-107301200	Bivalent Enhancer	Primary T cells from cord blood	blood
17	chr7:107300200-107301400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:107300200-107301600	Bivalent Enhancer	Fetal Thymus	thymus
19	chr7:107300400-107300800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:107300400-107301000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:107300400-107301000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr7:107300400-107301000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr7:107300400-107301000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:107300400-107301000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:107300400-107301000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:107300400-107301000	Bivalent Enhancer	HUVEC	blood vessel
27	chr7:107300400-107301200	Enhancers	NHLF	lung
28	chr7:107300600-107300800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr7:107300600-107300800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr7:107300600-107300800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr7:107300600-107300800	Bivalent Enhancer	A549	lung
32	chr7:107300600-107301000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:107300600-107301000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:107300600-107301000	Enhancers	Placenta	Placenta
35	chr7:107300600-107301000	Bivalent Enhancer	Osteobl	bone
36	chr7:107300600-107301200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:107300600-107301200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
38	chr7:107300600-107301200	Bivalent Enhancer	NHDF-Ad	bronchial
39	chr7:107300600-107301400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:107300600-107302400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr7:107300600-107302800	Enhancers	Spleen	Spleen

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