Variant report

Variant	rs17034202
Chromosome Location	chr2:99223081-99223082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99222297-99227404	K562	blood:	n/a	n/a
2	MAFK	chr2:99222696-99223281	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:99222925-99223147	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:99222950-99226515	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:99222591-99226334	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:99223020-99226264	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:99222985-99223965	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr2:99223019-99223461	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:99223077-99223396	K562	blood:	n/a	n/a
10	POLR2A	chr2:99222643-99223494	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:99222979-99223804	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:99222596-99223813	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:99222835-99223566	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99221557..99223102-chr2:99346482..99348239,2	MCF-7	breast:
2	chr2:99221188..99224105-chr2:99225000..99227009,2	K562	blood:
3	chr2:99204321..99207131-chr2:99222784..99224374,2	K562	blood:
4	chr2:99176669..99178423-chr2:99222546..99224803,2	K562	blood:

No data

Variant related genes	Relation type
UNC50	TF binding region
COA5	TF binding region
ENSG00000071073	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183473	1.00[AMR][1000 genomes]
rs11885661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:99210800-99223200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:99212600-99223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:99213200-99223600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:99216800-99223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:99217000-99223400	Weak transcription	A549	lung
7	chr2:99217000-99223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:99217200-99223600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:99217200-99223600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:99217400-99223600	Weak transcription	NH-A	brain
11	chr2:99218400-99223400	Weak transcription	NHLF	lung
12	chr2:99218600-99223400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:99219600-99223200	Weak transcription	Colonic Mucosa	Colon
14	chr2:99219600-99223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:99219800-99223200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:99220400-99223200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:99220400-99223200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:99220400-99223200	Weak transcription	HUVEC	blood vessel
19	chr2:99220400-99223600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:99220400-99223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:99220600-99223200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:99220600-99223200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:99220600-99223600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:99220800-99223200	Weak transcription	Placenta	Placenta
25	chr2:99220800-99223200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:99221200-99223400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:99221200-99223600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:99221200-99223800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:99221400-99223200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:99221400-99223200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:99221600-99223800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:99221600-99224000	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:99221800-99223400	Enhancers	Brain Hippocampus Middle	brain
34	chr2:99221800-99223600	Weak transcription	NHDF-Ad	bronchial
35	chr2:99222000-99223200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:99222000-99223600	Enhancers	Primary T cells from cord blood	blood
37	chr2:99222200-99223200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:99222200-99223200	Weak transcription	HSMM	muscle
39	chr2:99222200-99223400	Enhancers	Brain Anterior Caudate	brain
40	chr2:99222400-99223400	Weak transcription	Primary B cells from cord blood	blood
41	chr2:99222400-99223800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:99222400-99223800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:99222400-99223800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:99222400-99224000	Enhancers	Aorta	Aorta
45	chr2:99222400-99224000	Enhancers	Small Intestine	intestine
46	chr2:99222600-99223200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:99222600-99223200	Enhancers	Adipose Nuclei	Adipose
48	chr2:99222600-99223200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:99222600-99223200	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:99222600-99223400	Enhancers	Liver	Liver

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