Variant report

Variant	rs55767077
Chromosome Location	chr7:2774608-2774609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2773516..2775458-chr7:2797228..2798920,2	MCF-7	breast:
2	chr7:2772721..2775716-chr7:2791855..2793482,2	K562	blood:
3	chr7:2726497..2731953-chr7:2769904..2775258,10	MCF-7	breast:
4	chr7:2751778..2761552-chr7:2768388..2775125,13	K562	blood:
5	chr7:2773431..2776553-chr7:2903290..2905361,3	K562	blood:
6	chr7:2772073..2775942-chr7:2781505..2783799,3	K562	blood:
7	chr7:2767711..2769889-chr7:2772615..2775037,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11761804	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11764225	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11765492	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11769532	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11772508	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11971014	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17132594	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17132624	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17132665	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17300022	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55726557	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55776032	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55832916	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56007918	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56208415	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56356906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56399783	0.88[EUR][1000 genomes]
rs6461600	0.83[EUR][1000 genomes]
rs6964740	0.93[EUR][1000 genomes]
rs6967664	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73047343	0.84[EUR][1000 genomes]
rs73047355	0.83[EUR][1000 genomes]
rs73047368	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73047387	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73047393	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049305	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73049327	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049331	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049341	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049362	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73049380	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs757788	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7803944	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7804264	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7811164	0.91[EUR][1000 genomes]
rs9770108	0.82[AMR][1000 genomes];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	chr7:2756000-2777800	Weak transcription	Psoas Muscle	Psoas
3	chr7:2761000-2774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
5	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:2768400-2776600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:2770600-2775000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:2771000-2780400	Weak transcription	Aorta	Aorta
9	chr7:2771200-2775000	Weak transcription	Fetal Kidney	kidney
10	chr7:2771200-2776200	Enhancers	Placenta	Placenta
11	chr7:2771200-2777400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:2771200-2779400	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:2771200-2782200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:2771200-2783200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:2771200-2796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:2771400-2774800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:2771400-2774800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:2771400-2774800	Weak transcription	Gastric	stomach
19	chr7:2771400-2780600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:2771400-2782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:2771400-2785000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:2771400-2796200	Weak transcription	NHEK	skin
23	chr7:2771600-2777800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:2771600-2781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:2772000-2774800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:2772000-2775000	Weak transcription	Fetal Brain Female	brain
27	chr7:2772000-2776600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:2772000-2776800	Enhancers	Right Atrium	heart
29	chr7:2772200-2774800	Weak transcription	Liver	Liver
30	chr7:2772200-2775400	Enhancers	Ovary	ovary
31	chr7:2772200-2775800	Enhancers	HUVEC	blood vessel
32	chr7:2772200-2776600	Enhancers	Lung	lung
33	chr7:2772200-2776800	Enhancers	Left Ventricle	heart
34	chr7:2772400-2780400	Weak transcription	HMEC	breast
35	chr7:2772600-2774800	Enhancers	Stomach Smooth Muscle	stomach
36	chr7:2772600-2775800	Enhancers	NHDF-Ad	bronchial
37	chr7:2772600-2776800	Enhancers	Fetal Heart	heart
38	chr7:2772600-2777000	Enhancers	Fetal Muscle Leg	muscle
39	chr7:2772800-2775600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:2772800-2775800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:2772800-2776200	Enhancers	Spleen	Spleen
42	chr7:2772800-2776600	Enhancers	Brain Angular Gyrus	brain
43	chr7:2772800-2776800	Enhancers	Brain Anterior Caudate	brain
44	chr7:2772800-2783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:2773000-2775200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr7:2773000-2775400	Enhancers	Colonic Mucosa	Colon
47	chr7:2773000-2775600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:2773000-2775600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:2773000-2776800	Genic enhancers	Fetal Stomach	stomach
50	chr7:2773200-2776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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