Variant report

Variant	rs55919423
Chromosome Location	chr7:2752059-2752060
allele	C/T
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	chr7:2751778..2761552-chr7:2768388..2775125,13	K562	blood:
2	chr7:2559563..2562447-chr7:2751548..2753355,2	MCF-7	breast:
3	chr7:2726976..2732306-chr7:2751812..2755124,4	MCF-7	breast:
4	chr7:2744927..2748584-chr7:2749019..2753135,4	MCF-7	breast:
5	chr7:2751886..2754183-chr7:2882773..2885002,2	K562	blood:
6	chr7:2651840..2654640-chr7:2750461..2753060,2	MCF-7	breast:
7	chr7:2742345..2744590-chr7:2750506..2752200,2	K562	blood:
8	chr7:2749908..2752648-chr7:2759444..2761951,3	MCF-7	breast:
9	chr7:2747802..2752072-chr7:2752381..2756617,8	K562	blood:
10	chr7:2749388..2752316-chr7:2798126..2801115,2	K562	blood:
11	chr7:2734820..2736762-chr7:2751903..2754029,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55764600	1.00[AMR][1000 genomes]
rs73047342	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv518027	chr7:2643607-2753667	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1015695	chr7:2654768-2754025	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv538651	chr7:2654768-2754025	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	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
6	nsv605869	chr7:2672972-2752487	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2741800-2753200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:2742200-2765600	Weak transcription	HSMM	muscle
3	chr7:2746600-2753000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:2747800-2753800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:2748800-2755400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:2749000-2753400	Enhancers	Dnd41	blood
7	chr7:2749000-2760800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:2749400-2754800	Weak transcription	Fetal Brain Female	brain
9	chr7:2749400-2755600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:2749400-2770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:2749600-2752200	Weak transcription	Ovary	ovary
12	chr7:2749800-2752200	Weak transcription	Fetal Lung	lung
13	chr7:2749800-2752800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:2749800-2753000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:2749800-2753000	Weak transcription	K562	blood
16	chr7:2749800-2753400	Weak transcription	Pancreas	Pancrea
17	chr7:2749800-2757600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:2749800-2758000	Weak transcription	Brain Anterior Caudate	brain
19	chr7:2749800-2759800	Weak transcription	HMEC	breast
20	chr7:2749800-2770800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:2750000-2752200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:2750000-2753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:2750000-2753800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:2750000-2753800	Weak transcription	Fetal Brain Male	brain
25	chr7:2750000-2754200	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:2750000-2754600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:2750000-2754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:2750000-2754600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:2750000-2754600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:2750000-2754800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:2750000-2755000	Weak transcription	Fetal Intestine Large	intestine
32	chr7:2750000-2755000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:2750000-2757200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:2750000-2757400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:2750000-2760400	Weak transcription	Hela-S3	cervix
36	chr7:2750000-2760800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:2750000-2762800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:2750000-2765600	Weak transcription	Brain Substantia Nigra	brain
39	chr7:2750000-2767800	Weak transcription	Osteobl	bone
40	chr7:2750000-2768400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:2750000-2769000	Weak transcription	NHDF-Ad	bronchial
42	chr7:2750200-2752200	Strong transcription	Fetal Stomach	stomach
43	chr7:2750200-2756200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:2750200-2757600	Weak transcription	HepG2	liver
45	chr7:2750200-2757800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:2750200-2765800	Weak transcription	Liver	Liver
47	chr7:2750400-2752600	Weak transcription	Adipose Nuclei	Adipose
48	chr7:2750400-2753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:2750400-2753600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:2750400-2754200	Strong transcription	Fetal Intestine Small	intestine

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