Variant report

Variant	rs56399783
Chromosome Location	chr7:2754118-2754119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2753727..2755444-chr7:2914666..2916537,2	MCF-7	breast:
2	chr7:2747802..2752072-chr7:2752381..2756617,8	K562	blood:
3	chr7:2751778..2761552-chr7:2768388..2775125,13	K562	blood:
4	chr7:2748815..2750659-chr7:2753960..2755494,2	MCF-7	breast:
5	chr7:2726976..2732306-chr7:2751812..2755124,4	MCF-7	breast:
6	chr7:2724386..2733394-chr7:2753206..2761980,25	MCF-7	breast:
7	chr7:2751886..2754183-chr7:2882773..2885002,2	K562	blood:

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11761804	0.86[EUR][1000 genomes]
rs11764225	0.88[EUR][1000 genomes]
rs11765492	0.80[EUR][1000 genomes]
rs11772508	0.80[EUR][1000 genomes]
rs11971014	0.85[EUR][1000 genomes]
rs17132594	0.86[EUR][1000 genomes]
rs17132624	0.85[EUR][1000 genomes]
rs17132665	0.86[EUR][1000 genomes]
rs17300022	0.86[EUR][1000 genomes]
rs55726557	0.85[EUR][1000 genomes]
rs55767077	0.88[EUR][1000 genomes]
rs55776032	0.83[EUR][1000 genomes]
rs55832916	0.85[EUR][1000 genomes]
rs55868372	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56007918	0.84[EUR][1000 genomes]
rs56208415	0.86[EUR][1000 genomes]
rs56356906	0.88[EUR][1000 genomes]
rs60590917	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6964740	0.84[EUR][1000 genomes]
rs6967664	0.87[EUR][1000 genomes]
rs73047343	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73047355	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73047368	0.83[EUR][1000 genomes]
rs73047387	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73047393	0.88[EUR][1000 genomes]
rs73049305	0.85[EUR][1000 genomes]
rs73049327	0.86[EUR][1000 genomes]
rs73049331	0.86[EUR][1000 genomes]
rs73049341	0.86[EUR][1000 genomes]
rs73049362	0.84[EUR][1000 genomes]
rs7803944	0.86[EUR][1000 genomes]
rs7804264	0.84[EUR][1000 genomes]
rs7811164	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471227	chr7:2629020-2768864	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv887309	chr7:2664214-2763102	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv887312	chr7:2707822-2763102	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2742200-2765600	Weak transcription	HSMM	muscle
2	chr7:2748800-2755400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:2749000-2760800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:2749400-2754800	Weak transcription	Fetal Brain Female	brain
5	chr7:2749400-2755600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:2749400-2770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:2749800-2757600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:2749800-2758000	Weak transcription	Brain Anterior Caudate	brain
9	chr7:2749800-2759800	Weak transcription	HMEC	breast
10	chr7:2749800-2770800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:2750000-2754200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:2750000-2754600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:2750000-2754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:2750000-2754600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:2750000-2754600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:2750000-2754800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:2750000-2755000	Weak transcription	Fetal Intestine Large	intestine
18	chr7:2750000-2755000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:2750000-2757200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:2750000-2757400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:2750000-2760400	Weak transcription	Hela-S3	cervix
22	chr7:2750000-2760800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:2750000-2762800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:2750000-2765600	Weak transcription	Brain Substantia Nigra	brain
25	chr7:2750000-2767800	Weak transcription	Osteobl	bone
26	chr7:2750000-2768400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:2750000-2769000	Weak transcription	NHDF-Ad	bronchial
28	chr7:2750200-2756200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:2750200-2757600	Weak transcription	HepG2	liver
30	chr7:2750200-2757800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:2750200-2765800	Weak transcription	Liver	Liver
32	chr7:2750400-2754200	Strong transcription	Fetal Intestine Small	intestine
33	chr7:2750800-2755200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:2751000-2755400	Weak transcription	Colonic Mucosa	Colon
35	chr7:2751000-2755400	Weak transcription	NH-A	brain
36	chr7:2751000-2756200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:2751000-2756200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:2751000-2756400	Weak transcription	Esophagus	oesophagus
39	chr7:2751000-2756600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:2751000-2756600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:2751000-2759000	Enhancers	Fetal Heart	heart
42	chr7:2751000-2764400	Weak transcription	Brain Germinal Matrix	brain
43	chr7:2751200-2754200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:2751200-2754600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:2751200-2755200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:2751200-2755800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:2751200-2756600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:2751200-2768400	Weak transcription	Brain Angular Gyrus	brain
49	chr7:2751400-2754400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:2751600-2754400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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