Variant report

Variant	rs55654359
Chromosome Location	chr7:124460950-124460951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124404262..124405820-chr7:124460422..124463295,2	K562	blood:

Variant related genes	Relation type
ENSG00000170775	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs34065666	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34721371	1.00[EUR][1000 genomes]
rs35463079	0.86[EUR][1000 genomes]
rs56135137	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56403870	0.86[EUR][1000 genomes]
rs57883866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58372288	0.86[EUR][1000 genomes]
rs59044225	1.00[EUR][1000 genomes]
rs59045238	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59572327	1.00[EUR][1000 genomes]
rs59653477	1.00[EUR][1000 genomes]
rs59802163	1.00[EUR][1000 genomes]
rs60046069	0.83[EUR][1000 genomes]
rs60278737	0.86[EUR][1000 genomes]
rs61126904	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61504594	0.86[EUR][1000 genomes]
rs61660401	0.86[EUR][1000 genomes]
rs66461856	0.86[EUR][1000 genomes]
rs66480671	0.86[EUR][1000 genomes]
rs66501705	0.86[EUR][1000 genomes]
rs66506561	0.86[EUR][1000 genomes]
rs66528014	1.00[EUR][1000 genomes]
rs66539836	1.00[EUR][1000 genomes]
rs66578146	0.86[EUR][1000 genomes]
rs66610287	0.86[EUR][1000 genomes]
rs66639470	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs66965758	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs66979057	0.86[EUR][1000 genomes]
rs67166441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67326132	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs67476012	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67611448	0.86[EUR][1000 genomes]
rs67712588	0.86[EUR][1000 genomes]
rs67985498	1.00[EUR][1000 genomes]
rs68016764	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs68099817	0.86[EUR][1000 genomes]
rs6954402	0.86[EUR][1000 genomes]
rs73223520	0.86[EUR][1000 genomes]
rs73223522	0.86[EUR][1000 genomes]
rs73223548	0.86[EUR][1000 genomes]
rs73225404	1.00[EUR][1000 genomes]
rs73443852	1.00[EUR][1000 genomes]
rs7801681	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124445000-124463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124450800-124467000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:124451000-124461800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:124451200-124461600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:124451400-124463600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:124451600-124466600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:124452800-124475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:124453800-124462000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:124454400-124463000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:124454400-124463000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:124454600-124463800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:124454600-124501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:124457600-124461600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:124457600-124497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:124458600-124462200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:124458800-124462000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:124458800-124462200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:124458800-124462200	Weak transcription	Fetal Lung	lung
20	chr7:124458800-124463600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:124459000-124462400	Weak transcription	Primary T cells from cord blood	blood
22	chr7:124459000-124463600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:124459000-124463800	Weak transcription	Left Ventricle	heart
24	chr7:124459000-124463800	Weak transcription	GM12878-XiMat	blood
25	chr7:124459000-124497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:124459200-124462600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:124459200-124467600	Weak transcription	Esophagus	oesophagus
28	chr7:124459200-124469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:124459200-124497600	Weak transcription	Pancreas	Pancrea
30	chr7:124459200-124499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:124459400-124462000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:124459400-124463000	Weak transcription	Fetal Thymus	thymus
33	chr7:124459400-124497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:124459400-124497600	Weak transcription	Brain Anterior Caudate	brain
35	chr7:124459600-124462200	Weak transcription	Dnd41	blood
36	chr7:124459600-124462400	Weak transcription	HSMM	muscle
37	chr7:124459600-124463200	Weak transcription	Ovary	ovary
38	chr7:124460000-124461600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:124460000-124461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:124460000-124461600	Weak transcription	Liver	Liver
41	chr7:124460200-124461800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:124460200-124462000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:124460200-124463200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:124460200-124463800	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:124460200-124463800	Weak transcription	HUVEC	blood vessel
46	chr7:124460200-124465800	Weak transcription	NH-A	brain
47	chr7:124460200-124466000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:124460200-124483400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:124460400-124462000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:124460400-124463000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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