Variant report

Variant	rs73405466
Chromosome Location	chr7:99527536-99527537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:99526994-99527548	A549	lung:	n/a	n/a
2	CTCF	chr7:99526722-99527650	HCT-116	colon:	n/a	n/a
3	CTCF	chr7:99527400-99527550	GM12870	blood:	n/a	n/a
4	CTCF	chr7:99526731-99527730	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr7:99527082-99527743	HCT-116	colon:	n/a	chr7:99527648-99527661
6	RAD21	chr7:99527108-99527576	HCT-116	colon:	n/a	n/a
7	CTCF	chr7:99527480-99527630	GM12875	blood:	n/a	n/a
8	CTCF	chr7:99527086-99527585	MCF-7	breast:	n/a	n/a
9	RAD21	chr7:99526565-99527651	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr7:99527105-99527595	MCF-7	breast:	n/a	n/a
11	RAD21	chr7:99527138-99527552	A549	lung:	n/a	n/a
12	RAD21	chr7:99527148-99527586	A549	lung:	n/a	n/a
13	POLR2A	chr7:99525940-99530576	K562	blood:	n/a	n/a
14	RAD21	chr7:99526959-99527565	MCF-7	breast:	n/a	n/a
15	RAD21	chr7:99527110-99527561	MCF-7	breast:	n/a	n/a
16	RAD21	chr7:99527159-99527550	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr7:99526558-99527928	A549	lung:	n/a	n/a
18	CTCF	chr7:99527087-99527608	HCT-116	colon:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99102673..99104536-chr7:99527023..99529277,2	K562	blood:
2	chr7:99516373..99518642-chr7:99525768..99528008,3	MCF-7	breast:

No data

Variant related genes	Relation type
GJC3	TF binding region
ENSG00000146833	Chromatin interaction
ENSG00000196652	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73393655	0.90[AFR][1000 genomes]
rs73405434	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv607930	chr7:99525241-99602191	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99526400-99527800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:99526400-99528000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr7:99526600-99527600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr7:99526600-99527800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:99526600-99527800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:99526600-99527800	Enhancers	Esophagus	oesophagus
7	chr7:99526600-99528600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:99526800-99527600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:99526800-99527600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr7:99526800-99527600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:99526800-99527600	Bivalent Enhancer	Fetal Lung	lung
12	chr7:99526800-99527800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:99526800-99528000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:99526800-99528000	Enhancers	Brain Angular Gyrus	brain
15	chr7:99526800-99528000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr7:99527000-99527600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:99527000-99527600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:99527000-99527600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr7:99527000-99527600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:99527000-99527600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:99527000-99527600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:99527000-99527600	Active TSS	Colon Smooth Muscle	Colon
23	chr7:99527000-99527800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:99527000-99527800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:99527000-99527800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr7:99527000-99528000	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:99527200-99527600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:99527200-99527600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:99527200-99527600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr7:99527200-99527600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:99527200-99527600	Enhancers	Adipose Nuclei	Adipose
32	chr7:99527200-99527600	Enhancers	Liver	Liver
33	chr7:99527200-99527600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr7:99527200-99527600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr7:99527200-99527600	Bivalent Enhancer	Fetal Thymus	thymus
36	chr7:99527200-99527600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr7:99527200-99527800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:99527200-99527800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr7:99527200-99527800	Bivalent Enhancer	Dnd41	blood
40	chr7:99527200-99528000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:99527200-99528000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:99527200-99528000	Enhancers	Fetal Kidney	kidney
43	chr7:99527400-99527600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr7:99527400-99527600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr7:99527400-99527600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:99527400-99527600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:99527400-99527600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:99527400-99527600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr7:99527400-99527600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:99527400-99527600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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