Variant report

Variant	rs72898313
Chromosome Location	chr1:45967103-45967104
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:45966750-45967104	HepG2	liver:	n/a	n/a
2	MXI1	chr1:45964964-45967174	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:45964582-45967225	HepG2	liver:	n/a	n/a
4	SPI1	chr1:45966920-45967164	GM12878	blood:	n/a	chr1:45967049-45967062
5	HEY1	chr1:45967001-45967478	HepG2	liver:	n/a	n/a
6	SPI1	chr1:45966788-45967292	HL-60	blood:	n/a	chr1:45967049-45967062
7	MYBL2	chr1:45966554-45967673	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:45966761-45968127	A549	lung:	n/a	n/a
9	SPI1	chr1:45966892-45967107	K562	blood:	n/a	chr1:45967049-45967062
10	POLR2A	chr1:45966645-45967373	HepG2	liver:	n/a	n/a
11	SREBP1	chr1:45964570-45967128	GM12878	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45239737..45242586-chr1:45965500..45967251,2	K562	blood:
2	chr1:45804114..45807301-chr1:45961577..45967419,8	K562	blood:
3	chr1:45966070..45969060-chr1:46033668..46035384,2	MCF-7	breast:
4	chr1:45185969..45188598-chr1:45964540..45967567,4	K562	blood:
5	chr1:45283510..45287262-chr1:45964108..45968951,6	K562	blood:
6	chr1:45952646..45954421-chr1:45965976..45968197,2	K562	blood:
7	chr1:45768003..45772070-chr1:45964648..45967315,5	K562	blood:
8	chr1:45963397..45969763-chr1:46047572..46053150,23	K562	blood:
9	chr1:45963437..45971807-chr1:46047572..46053150,22	K562	blood:
10	chr1:45965940..45967492-chr1:46038830..46041668,2	K562	blood:
11	chr1:45964150..45967582-chr1:46014583..46018871,5	K562	blood:
12	chr1:45272934..45277358-chr1:45964626..45967668,4	K562	blood:
13	chr1:45284392..45287262-chr1:45964108..45967526,3	K562	blood:
14	chr1:45804471..45806506-chr1:45965051..45967533,2	K562	blood:
15	chr1:45185644..45188958-chr1:45966067..45969348,3	K562	blood:
16	chr1:45965671..45969478-chr1:45972057..45975317,5	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC163P	TF binding region
ENSG00000222009	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000132781	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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211127	1.00[EUR][1000 genomes]
rs12065695	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066809	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067882	1.00[EUR][1000 genomes]
rs12070890	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12073047	1.00[EUR][1000 genomes]
rs12083690	0.91[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	0.91[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1855621	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532613	1.00[EUR][1000 genomes]
rs28674795	1.00[AMR][1000 genomes]
rs2934860	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934861	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934863	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934864	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991965	0.84[AFR][1000 genomes]
rs2991967	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2991984	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993256	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993260	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014222	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014223	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014224	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014226	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35067820	1.00[EUR][1000 genomes]
rs35103566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36053912	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57910611	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59050426	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60347972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60660559	1.00[EUR][1000 genomes]
rs6664588	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6699702	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896187	1.00[EUR][1000 genomes]
rs72898315	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898320	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898323	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900311	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7412911	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550744	1.00[EUR][1000 genomes]
rs9429080	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429083	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429164	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429165	0.85[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	chr1:45964800-45967200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:45964800-45967400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:45965000-45967200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:45965000-45967200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr1:45965400-45967400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:45966000-45967200	Flanking Active TSS	Dnd41	blood
8	chr1:45966400-45967200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:45966400-45967200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:45966400-45967400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:45966400-45967600	Enhancers	Spleen	Spleen
12	chr1:45966400-45971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:45966400-45973000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:45966400-45973000	Weak transcription	Lung	lung
15	chr1:45966400-45975600	Weak transcription	HSMMtube	muscle
16	chr1:45966400-45975800	Weak transcription	Aorta	Aorta
17	chr1:45966600-45967200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:45966600-45967200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:45966600-45967200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:45966600-45967200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:45966600-45967200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:45966600-45967200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:45966600-45967200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:45966600-45967200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:45966600-45967200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:45966600-45967200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:45966600-45967200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr1:45966600-45967200	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr1:45966600-45967200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:45966600-45967200	Enhancers	Psoas Muscle	Psoas
31	chr1:45966600-45967200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr1:45966600-45967200	Flanking Active TSS	A549	lung
33	chr1:45966600-45967200	Flanking Active TSS	K562	blood
34	chr1:45966600-45967400	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:45966600-45967400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:45966600-45967400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr1:45966600-45967400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr1:45966600-45967400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr1:45966600-45967600	Enhancers	Gastric	stomach
40	chr1:45966600-45967600	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:45966600-45967800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr1:45966600-45967800	Flanking Active TSS	Hela-S3	cervix
43	chr1:45966600-45968200	Flanking Active TSS	Liver	Liver
44	chr1:45966600-45973000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:45966600-45984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:45966800-45967200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:45966800-45967200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:45966800-45967200	Enhancers	Primary T cells from cord blood	blood
49	chr1:45966800-45967200	Enhancers	Primary hematopoietic stem cells	blood
50	chr1:45966800-45967200	Enhancers	Primary T helper cells PMA-I stimulated	--

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