Variant report

Variant	rs56076998
Chromosome Location	chr1:184771821-184771822
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	chr1:184771660..184773862-chr1:184776214..184778958,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1465106	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234642	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234647	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234649	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234651	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234652	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234653	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234654	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234655	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234656	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234664	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927681	0.87[EUR][1000 genomes]
rs35545276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845472	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637494	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55710473	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55757920	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639593	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528487	0.94[EUR][1000 genomes]
rs7528626	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184762000-184781600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184762000-184787800	Weak transcription	Spleen	Spleen
4	chr1:184762200-184775000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:184762200-184775800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:184762400-184774800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:184762400-184775800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:184762400-184789400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:184762600-184792800	Weak transcription	Colonic Mucosa	Colon
10	chr1:184762800-184772000	Weak transcription	HMEC	breast
11	chr1:184762800-184772200	Weak transcription	NHEK	skin
12	chr1:184763000-184782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:184763200-184772000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:184763200-184774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:184763800-184781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:184764800-184779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:184765200-184775000	Weak transcription	Esophagus	oesophagus
18	chr1:184765800-184772400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:184766200-184775000	Weak transcription	Stomach Mucosa	stomach
20	chr1:184766200-184776600	Weak transcription	Fetal Stomach	stomach
21	chr1:184767200-184775200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:184767400-184772000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:184767400-184775200	Weak transcription	Lung	lung
24	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:184769800-184773800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:184769800-184773800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:184769800-184773800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:184769800-184774600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:184769800-184775000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:184770000-184772000	Strong transcription	GM12878-XiMat	blood
31	chr1:184770000-184773400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:184770000-184773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:184770000-184773600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:184770000-184773800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:184770000-184773800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:184770000-184774000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:184770000-184774800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:184770200-184773400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:184770200-184773400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:184770200-184773400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:184770200-184773800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:184770400-184775600	Weak transcription	Placenta	Placenta
43	chr1:184770600-184772400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:184770800-184772000	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:184770800-184772000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:184770800-184772400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:184770800-184773800	Strong transcription	Left Ventricle	heart
48	chr1:184770800-184775000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:184770800-184775000	Weak transcription	Adipose Nuclei	Adipose
50	chr1:184770800-184775000	Weak transcription	Fetal Heart	heart

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