Variant report

Variant	rs73167392
Chromosome Location	chr2:10259840-10259841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10259419-10264186	PANC-1	pancreas:	n/a	n/a
2	FOSL2	chr2:10259836-10262480	A549	lung:	n/a	chr2:10262401-10262410 chr2:10260480-10260489 chr2:10260855-10260865 chr2:10260853-10260864 chr2:10260856-10260864 chr2:10260485-10260494 chr2:10260856-10260864 chr2:10260856-10260863
3	POLR2A	chr2:10259553-10264206	PANC-1	pancreas:	n/a	n/a
4	TEAD4	chr2:10259711-10262448	HepG2	liver:	n/a	chr2:10261291-10261300
5	POLR2A	chr2:10259824-10263123	K562	blood:	n/a	n/a
6	NR2F2	chr2:10259698-10262430	K562	blood:	n/a	n/a
7	CEBPB	chr2:10259739-10259940	K562	blood:	n/a	n/a
8	POLR2A	chr2:10259765-10263544	HepG2	liver:	n/a	n/a
9	MYBL2	chr2:10259556-10261454	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:10259641-10264195	Raji	blood:	n/a	n/a
11	POLR2A	chr2:10259753-10264243	K562	blood:	n/a	n/a
12	POLR2A	chr2:10259734-10270545	GM12891	blood:	n/a	n/a
13	POLR2A	chr2:10259665-10261187	K562	blood:	n/a	n/a
14	BRCA1	chr2:10259652-10261506	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:10259671-10259857	K562	blood:	n/a	n/a
16	MXI1	chr2:10259320-10265654	SK-N-SH	brain:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10259345..10261058-chr2:11886635..11888299,2	K562	blood:
2	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
3	chr2:10258968..10261511-chr2:10592370..10593995,2	MCF-7	breast:
4	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
5	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
6	chr2:10168238..10170580-chr2:10257778..10260756,2	K562	blood:
7	chr2:10181218..10185124-chr2:10258845..10261889,3	MCF-7	breast:
8	chr2:9941416..9943332-chr2:10258311..10260459,2	K562	blood:
9	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
10	chr2:10181815..10186886-chr2:10257895..10263826,12	K562	blood:
11	chr2:10181485..10190041-chr2:10258160..10265104,19	K562	blood:
12	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
13	chr2:9769329..9772234-chr2:10259369..10263419,6	K562	blood:
14	chr2:10259710..10265084-chr2:10586364..10590442,7	MCF-7	breast:
15	chr2:9769329..9772328-chr2:10259369..10262409,6	K562	blood:
16	chr2:10229570..10233123-chr2:10259464..10263291,4	K562	blood:
17	chr2:10259560..10262841-chr2:10591002..10595402,4	K562	blood:
18	chr2:10247985..10250087-chr2:10258570..10260545,2	MCF-7	breast:
19	chr2:9909026..9912481-chr2:10259443..10262566,4	K562	blood:

No data

Variant related genes	Relation type
RRM2	TF binding region
ENSG00000272524	TF binding region
ENSG00000134308	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000212558	Chromatin interaction
ENSG00000217258	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000243491	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1138729	1.00[ASN][1000 genomes]
rs11691833	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395772	1.00[ASN][1000 genomes]
rs4669529	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669534	1.00[ASN][1000 genomes]
rs4669536	1.00[ASN][1000 genomes]
rs6432063	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72544298	1.00[ASN][1000 genomes]
rs7574663	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582263	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv873633	chr2:10175442-10266563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv1010706	chr2:10189219-10266995	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10242200-10260200	Weak transcription	Right Atrium	heart
2	chr2:10256200-10260000	Weak transcription	HMEC	breast
3	chr2:10257200-10260200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:10257600-10260000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:10258400-10260000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:10258400-10260000	Enhancers	Liver	Liver
7	chr2:10258600-10260000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:10258600-10260000	Weak transcription	Thymus	Thymus
9	chr2:10258600-10260200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:10258600-10260200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:10258600-10260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:10258600-10260200	Weak transcription	NHDF-Ad	bronchial
13	chr2:10258600-10260200	Weak transcription	NHLF	lung
14	chr2:10258600-10260400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:10258800-10260000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:10258800-10260000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:10258800-10260000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:10258800-10260000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:10258800-10260000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:10258800-10260000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:10258800-10260000	Weak transcription	NH-A	brain
22	chr2:10258800-10260200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:10258800-10260200	Weak transcription	HUVEC	blood vessel
24	chr2:10259400-10260200	Enhancers	Fetal Thymus	thymus
25	chr2:10259400-10260400	Flanking Active TSS	HepG2	liver
26	chr2:10259600-10260000	Enhancers	Primary T cells from cord blood	blood
27	chr2:10259600-10260000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:10259600-10260000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:10259600-10260000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:10259600-10260000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:10259600-10260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:10259600-10260200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:10259600-10260200	Enhancers	Placenta	Placenta
34	chr2:10259600-10260200	Flanking Active TSS	A549	lung
35	chr2:10259600-10260200	Flanking Active TSS	K562	blood
36	chr2:10259600-10260400	Flanking Active TSS	Dnd41	blood
37	chr2:10259600-10260400	Flanking Active TSS	GM12878-XiMat	blood
38	chr2:10259600-10260600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:10259800-10260000	Enhancers	Primary B cells from cord blood	blood
40	chr2:10259800-10260000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:10259800-10260000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr2:10259800-10260000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:10259800-10260000	Enhancers	Adipose Nuclei	Adipose
44	chr2:10259800-10260000	Enhancers	Colonic Mucosa	Colon
45	chr2:10259800-10260000	Enhancers	Fetal Intestine Small	intestine
46	chr2:10259800-10260000	Enhancers	Fetal Muscle Trunk	muscle
47	chr2:10259800-10260000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr2:10259800-10260200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:10259800-10260200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr2:10259800-10260200	Enhancers	Primary hematopoietic stem cells	blood

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