Variant report

Variant	rs55701948
Chromosome Location	chr1:247042535-247042536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247041147..247045524-chr1:247051435..247055344,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1616541	1.00[AMR][1000 genomes]
rs1691232	1.00[AMR][1000 genomes]
rs1691243	1.00[AMR][1000 genomes]
rs2011875	1.00[AMR][1000 genomes]
rs2642985	1.00[AMR][1000 genomes]
rs2642986	0.81[AFR][1000 genomes]
rs55703892	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144220	1.00[AMR][1000 genomes]
rs73146667	1.00[AMR][1000 genomes]
rs7550035	0.81[AFR][1000 genomes]
rs903465	1.00[AMR][1000 genomes]
rs967953	1.00[AMR][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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv5276	chr1:247028364-247073098	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:247003400-247044600	Strong transcription	Dnd41	blood
7	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
8	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:247004200-247044400	Strong transcription	Liver	Liver
13	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
15	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
17	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:247018400-247056400	Weak transcription	Fetal Heart	heart
19	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:247022000-247043000	Strong transcription	A549	lung
21	chr1:247022400-247042800	Weak transcription	Gastric	stomach
22	chr1:247024200-247052000	Weak transcription	Pancreas	Pancrea
23	chr1:247025200-247048000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:247025200-247052000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:247030000-247043000	Strong transcription	Fetal Thymus	thymus
26	chr1:247030000-247043200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:247030600-247042800	Strong transcription	HepG2	liver
28	chr1:247031200-247043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:247031600-247043200	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:247031600-247043200	Strong transcription	Thymus	Thymus
31	chr1:247031600-247043400	Strong transcription	K562	blood
32	chr1:247031600-247071400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:247031800-247042800	Strong transcription	Hela-S3	cervix
34	chr1:247032200-247043400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:247032400-247044400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:247032600-247043400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:247032800-247051600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:247033200-247060800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:247033600-247058000	Weak transcription	Colonic Mucosa	Colon
40	chr1:247033800-247045000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:247033800-247046000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:247033800-247051600	Weak transcription	HSMMtube	muscle
43	chr1:247033800-247070800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:247035000-247051600	Weak transcription	Psoas Muscle	Psoas
45	chr1:247035800-247051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:247036000-247043400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:247036200-247052000	Weak transcription	Small Intestine	intestine
48	chr1:247036400-247043200	Strong transcription	Ovary	ovary
49	chr1:247037200-247051800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:247037400-247052000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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