Variant report

Variant	rs55738529
Chromosome Location	chr1:185051939-185051940
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	chr1:185035497..185037691-chr1:185050887..185053669,2	K562	blood:
2	chr1:185045876..185047859-chr1:185050468..185052200,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2273878	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753568	1.00[EUR][1000 genomes]
rs3753571	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753573	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55812604	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56691510	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58345263	1.00[AMR][1000 genomes]
rs60857974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61128842	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61577109	1.00[AMR][1000 genomes]
rs74134413	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134417	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
6	chr1:185021600-185057200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:185024200-185056600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:185027200-185056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:185027200-185056400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:185028200-185058200	Weak transcription	Brain Substantia Nigra	brain
11	chr1:185030200-185076600	Weak transcription	Gastric	stomach
12	chr1:185032200-185057800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:185032800-185056600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:185034800-185057400	Weak transcription	Fetal Brain Female	brain
15	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:185035000-185056600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:185035000-185058000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:185035200-185056600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:185035400-185057000	Weak transcription	Fetal Intestine Large	intestine
20	chr1:185035800-185052600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:185035800-185056400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:185035800-185057800	Weak transcription	Fetal Lung	lung
23	chr1:185036000-185056600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:185036000-185056600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:185037400-185056800	Weak transcription	Placenta	Placenta
26	chr1:185037800-185052600	Weak transcription	Aorta	Aorta
27	chr1:185037800-185056400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:185037800-185056800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:185037800-185065400	Weak transcription	HMEC	breast
30	chr1:185038400-185063600	Weak transcription	Psoas Muscle	Psoas
31	chr1:185038600-185063600	Weak transcription	Left Ventricle	heart
32	chr1:185038800-185053400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:185041000-185056400	Weak transcription	Primary T cells from cord blood	blood
34	chr1:185041200-185056400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:185041200-185056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:185041600-185056600	Weak transcription	Primary B cells from cord blood	blood
37	chr1:185043200-185055600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:185043600-185056600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:185043600-185069400	Weak transcription	Pancreas	Pancrea
40	chr1:185044000-185065200	Weak transcription	NHEK	skin
41	chr1:185044400-185057400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:185044800-185056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:185044800-185056600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:185044800-185056800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:185044800-185057000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:185044800-185057600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:185045000-185068800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:185045400-185055200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:185046000-185066000	Weak transcription	Stomach Mucosa	stomach
50	chr1:185046200-185055200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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