Variant report

Variant	rs73047387
Chromosome Location	chr7:2774125-2774126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2773516..2775458-chr7:2797228..2798920,2	MCF-7	breast:
2	chr7:2768256..2774537-chr7:2775031..2780281,7	K562	blood:
3	chr7:2772721..2775716-chr7:2791855..2793482,2	K562	blood:
4	chr7:2726497..2731953-chr7:2769904..2775258,10	MCF-7	breast:
5	chr7:2751778..2761552-chr7:2768388..2775125,13	K562	blood:
6	chr7:2773431..2776553-chr7:2903290..2905361,3	K562	blood:
7	chr7:2772398..2774554-chr7:2882774..2884282,2	MCF-7	breast:
8	chr7:2769685..2774579-chr7:2777594..2780364,4	K562	blood:
9	chr7:2758294..2760218-chr7:2772871..2774400,2	MCF-7	breast:
10	chr7:2772073..2775942-chr7:2781505..2783799,3	K562	blood:
11	chr7:2767711..2769889-chr7:2772615..2775037,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11761804	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11764225	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11765492	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11769532	0.84[EUR][1000 genomes]
rs11772508	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11971014	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17132594	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17132624	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17132665	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17300022	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55726557	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55767077	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55776032	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55832916	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56007918	0.92[EUR][1000 genomes]
rs56208415	0.97[EUR][1000 genomes]
rs56356906	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56399783	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60590917	0.81[AMR][1000 genomes]
rs6461600	0.83[EUR][1000 genomes]
rs6964740	0.93[EUR][1000 genomes]
rs6967664	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73047343	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73047355	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73047368	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73047393	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049305	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73049327	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049331	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049341	0.97[EUR][1000 genomes]
rs73049362	0.92[EUR][1000 genomes]
rs73049380	0.84[EUR][1000 genomes]
rs757788	0.84[EUR][1000 genomes]
rs7803944	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7804264	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7811164	0.91[EUR][1000 genomes]
rs9770108	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017611	chr7:2750418-2781716	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv538654	chr7:2750418-2781716	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv605872	chr7:2770899-2776698	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 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	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:2754800-2774200	Weak transcription	Fetal Brain Male	brain
3	chr7:2756000-2777800	Weak transcription	Psoas Muscle	Psoas
4	chr7:2761000-2774200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:2761000-2774200	Weak transcription	GM12878-XiMat	blood
6	chr7:2761000-2774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
8	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:2764600-2774400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:2768400-2776600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:2770600-2775000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:2771000-2774600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:2771000-2780400	Weak transcription	Aorta	Aorta
14	chr7:2771200-2774200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:2771200-2774600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:2771200-2774600	Weak transcription	NHLF	lung
17	chr7:2771200-2775000	Weak transcription	Fetal Kidney	kidney
18	chr7:2771200-2776200	Enhancers	Placenta	Placenta
19	chr7:2771200-2777400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:2771200-2779400	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:2771200-2782200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:2771200-2783200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:2771200-2796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:2771400-2774600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:2771400-2774600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:2771400-2774600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:2771400-2774600	Weak transcription	HSMMtube	muscle
28	chr7:2771400-2774800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:2771400-2774800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:2771400-2774800	Weak transcription	Gastric	stomach
31	chr7:2771400-2780600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:2771400-2782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:2771400-2785000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:2771400-2796200	Weak transcription	NHEK	skin
35	chr7:2771600-2777800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:2771600-2781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:2772000-2774600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:2772000-2774600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:2772000-2774800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr7:2772000-2775000	Weak transcription	Fetal Brain Female	brain
41	chr7:2772000-2776600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:2772000-2776800	Enhancers	Right Atrium	heart
43	chr7:2772200-2774800	Weak transcription	Liver	Liver
44	chr7:2772200-2775400	Enhancers	Ovary	ovary
45	chr7:2772200-2775800	Enhancers	HUVEC	blood vessel
46	chr7:2772200-2776600	Enhancers	Lung	lung
47	chr7:2772200-2776800	Enhancers	Left Ventricle	heart
48	chr7:2772400-2774400	Enhancers	Adipose Nuclei	Adipose
49	chr7:2772400-2780400	Weak transcription	HMEC	breast
50	chr7:2772600-2774800	Enhancers	Stomach Smooth Muscle	stomach

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