Variant report

Variant	rs72898315
Chromosome Location	chr1:45968504-45968505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:45968480-45969008	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45966070..45969060-chr1:46033668..46035384,2	MCF-7	breast:
2	chr1:45283510..45287262-chr1:45964108..45968951,6	K562	blood:
3	chr1:45963397..45969763-chr1:46047572..46053150,23	K562	blood:
4	chr1:45963437..45971807-chr1:46047572..46053150,22	K562	blood:
5	chr1:45185644..45188958-chr1:45966067..45969348,3	K562	blood:
6	chr1:45965671..45969478-chr1:45972057..45975317,5	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC163P	TF binding region
ENSG00000132780	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000132763	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11211125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211127	1.00[EUR][1000 genomes]
rs12065695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067882	1.00[EUR][1000 genomes]
rs12070890	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12073047	1.00[EUR][1000 genomes]
rs12083690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091335	1.00[EUR][1000 genomes]
rs12093444	1.00[EUR][1000 genomes]
rs12565230	1.00[EUR][1000 genomes]
rs16832540	1.00[EUR][1000 genomes]
rs16832545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832550	1.00[EUR][1000 genomes]
rs16832557	1.00[EUR][1000 genomes]
rs16832559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1855621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532613	1.00[EUR][1000 genomes]
rs28674795	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2934860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991965	0.92[AFR][1000 genomes]
rs2991967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993256	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014222	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35067820	1.00[EUR][1000 genomes]
rs35103566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36053912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57910611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59050426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60347972	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60660559	1.00[EUR][1000 genomes]
rs6664588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6699702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896187	1.00[EUR][1000 genomes]
rs72898313	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7412911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550744	1.00[EUR][1000 genomes]
rs9429080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
7	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
8	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 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	chr1:45956800-45974000	Weak transcription	Small Intestine	intestine
2	chr1:45966400-45971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:45966400-45973000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:45966400-45973000	Weak transcription	Lung	lung
5	chr1:45966400-45975600	Weak transcription	HSMMtube	muscle
6	chr1:45966400-45975800	Weak transcription	Aorta	Aorta
7	chr1:45966600-45973000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:45966600-45984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:45966800-45972800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:45966800-45973200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:45966800-45973200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:45966800-45973600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:45966800-45973600	Weak transcription	NHLF	lung
14	chr1:45966800-45973800	Weak transcription	Brain Germinal Matrix	brain
15	chr1:45966800-45974200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:45966800-45975800	Weak transcription	HSMM	muscle
17	chr1:45966800-45975800	Weak transcription	NHDF-Ad	bronchial
18	chr1:45966800-45976000	Weak transcription	Fetal Brain Male	brain
19	chr1:45966800-45976000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:45966800-45980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:45966800-45984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:45967000-45969400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:45967000-45969800	Weak transcription	Fetal Stomach	stomach
24	chr1:45967000-45972800	Weak transcription	Right Ventricle	heart
25	chr1:45967000-45973000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:45967000-45973000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:45967000-45973000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:45967000-45973200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:45967000-45973200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:45967000-45973200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:45967000-45973400	Weak transcription	Primary B cells from cord blood	blood
32	chr1:45967000-45973400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:45967000-45973800	Weak transcription	Ovary	ovary
34	chr1:45967000-45974000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:45967000-45974000	Weak transcription	Colonic Mucosa	Colon
36	chr1:45967000-45974000	Weak transcription	HUVEC	blood vessel
37	chr1:45967000-45974400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:45967000-45974400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:45967000-45974400	Weak transcription	Osteobl	bone
40	chr1:45967000-45975400	Weak transcription	NH-A	brain
41	chr1:45967000-45975600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:45967000-45975800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:45967000-45977200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:45967200-45969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:45967200-45969200	Weak transcription	Primary T cells from cord blood	blood
46	chr1:45967200-45969400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:45967200-45972800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:45967200-45972800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:45967200-45973000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:45967200-45973000	Weak transcription	Primary hematopoietic stem cells	blood

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