Variant report

Variant	rs16823429
Chromosome Location	chr1:184722046-184722047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183996674..183999449-chr1:184721278..184723656,2	K562	blood:
2	chr1:184721288..184723463-chr1:185282046..185283828,2	K562	blood:
3	chr1:184721859..184724654-chr1:185126581..185128573,2	MCF-7	breast:
4	chr1:184702525..184704823-chr1:184721375..184723068,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116668	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489697	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797985	0.87[EUR][1000 genomes]
rs10911628	0.87[EUR][1000 genomes]
rs10911637	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12060621	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12067111	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12079454	1.00[ASN][1000 genomes]
rs12094196	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12096214	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16823413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224092	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35779894	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41535944	0.88[AFR][1000 genomes]
rs55760657	0.94[AMR][1000 genomes]
rs55896922	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384325	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56741490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58465130	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59085958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347366	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59634722	0.94[AMR][1000 genomes]
rs59862212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61022402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823870	1.00[AMR][1000 genomes]
rs61823871	1.00[AMR][1000 genomes]
rs61823873	1.00[AMR][1000 genomes]
rs61823876	0.94[AMR][1000 genomes]
rs61823879	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61823880	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823882	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681178	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
2	chr1:184677600-184723200	Weak transcription	Lung	lung
3	chr1:184685400-184722800	Weak transcription	Ovary	ovary
4	chr1:184685600-184722600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:184686200-184722600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:184698200-184722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:184699800-184722200	Weak transcription	Fetal Stomach	stomach
8	chr1:184702200-184722200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:184703200-184722800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:184706200-184722400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:184707000-184723000	Weak transcription	Placenta	Placenta
12	chr1:184707200-184722600	Weak transcription	HSMM	muscle
13	chr1:184712000-184722800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:184712600-184722600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:184715000-184722800	Weak transcription	Fetal Brain Male	brain
16	chr1:184715400-184722600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:184715800-184722200	Weak transcription	NHLF	lung
18	chr1:184715800-184722600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:184716000-184722600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:184716600-184722400	Weak transcription	Fetal Thymus	thymus
21	chr1:184717400-184723200	Weak transcription	Left Ventricle	heart
22	chr1:184718400-184722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:184718600-184722600	Weak transcription	Fetal Lung	lung
24	chr1:184719400-184722400	Weak transcription	A549	lung
25	chr1:184719400-184722600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:184720200-184722400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:184720400-184722400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:184720400-184722600	Enhancers	Liver	Liver
29	chr1:184720600-184722400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr1:184720600-184722400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:184720800-184722400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:184720800-184722600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:184720800-184722800	Enhancers	Small Intestine	intestine
34	chr1:184721000-184722400	Enhancers	Fetal Intestine Large	intestine
35	chr1:184721200-184722200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:184721200-184722400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr1:184721200-184722600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:184721200-184722600	Weak transcription	Right Ventricle	heart
39	chr1:184721200-184723200	Weak transcription	Gastric	stomach
40	chr1:184721400-184722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:184721400-184722200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:184721400-184722200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:184721400-184722200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:184721400-184722200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:184721400-184722200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:184721400-184722400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:184721400-184722400	Enhancers	HepG2	liver
48	chr1:184721400-184722600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:184721400-184723000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:184721600-184722200	Enhancers	Primary T cells from cord blood	blood

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