Variant report

Variant	rs141106158
Chromosome Location	chr1:171749720-171749721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:171749666-171751578	K562	blood:	n/a	n/a
2	IRF1	chr1:171749271-171751404	K562	blood:	n/a	chr1:171750714-171750723 chr1:171750617-171750631
3	NR2F2	chr1:171749658-171751562	K562	blood:	n/a	n/a
4	CBX3	chr1:171749560-171751124	K562	blood:	n/a	n/a
5	POLR2A	chr1:171749657-171751517	PBDE	blood:	n/a	n/a
6	POLR2A	chr1:171749594-171751396	Raji	blood:	n/a	n/a
7	POLR2A	chr1:171749702-171749735	MCF10A-Er-Src	breast:	n/a	n/a
8	KAP1	chr1:171749623-171750355	K562	blood:	n/a	n/a
9	MXI1	chr1:171749215-171752807	SK-N-SH	brain:	n/a	n/a
10	RCOR1	chr1:171749524-171751256	K562	blood:	n/a	n/a
11	POLR2A	chr1:171749551-171752609	K562	blood:	n/a	n/a
12	GATA2	chr1:171749622-171751654	SH-SY5Y	brain:	n/a	chr1:171750336-171750346 chr1:171751380-171751390 chr1:171750355-171750368 chr1:171749651-171749668 chr1:171750353-171750364
13	POLR2A	chr1:171749430-171751571	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr1:171749627-171752106	HepG2	liver:	n/a	n/a
15	MYC	chr1:171749586-171751403	K562	blood:	n/a	n/a
16	POLR2A	chr1:171749545-171751474	GM12891	blood:	n/a	n/a
17	ZNF384	chr1:171749656-171751143	K562	blood:	n/a	n/a
18	POLR2A	chr1:171749667-171751568	K562	blood:	n/a	n/a
19	RFX5	chr1:171749259-171751703	SK-N-SH	brain:	n/a	chr1:171750715-171750724
20	E2F6	chr1:171749628-171751720	K562	blood:	n/a	chr1:171750399-171750410 chr1:171750714-171750723
21	POLR2A	chr1:171749661-171751490	GM12878	blood:	n/a	n/a
22	HCFC1	chr1:171749427-171751609	Hela-S3	cervix:	n/a	n/a
23	TBP	chr1:171749464-171751326	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:171738907..171740950-chr1:171747822..171750244,2	MCF-7	breast:
2	chr1:171710341..171715416-chr1:171748571..171752440,7	MCF-7	breast:
3	chr1:171711288..171712051-chr1:171749296..171750274,2	Hela-S3	cervix:
4	chr1:171710046..171714350-chr1:171748592..171750523,6	K562	blood:
5	chr1:171719352..171723049-chr1:171749265..171752646,3	MCF-7	breast:
6	chr1:171735538..171739658-chr1:171748409..171750930,4	MCF-7	breast:
7	chr1:171729687..171733295-chr1:171747531..171751881,5	K562	blood:
8	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
9	chr1:171748445..171750403-chr1:173987079..173989780,2	MCF-7	breast:
10	chr1:171728708..171731158-chr1:171748251..171750478,2	MCF-7	breast:
11	chr1:171708496..171713095-chr1:171747641..171752422,13	MCF-7	breast:
12	chr1:171734176..171737844-chr1:171748206..171752284,5	K562	blood:
13	chr1:171724145..171725831-chr1:171749285..171750823,2	K562	blood:

No data

Variant related genes	Relation type
METTL13	TF binding region
ENSG00000232261	Chromatin interaction
ENSG00000253060	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000236741	Chromatin interaction
ENSG00000271459	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1802105	chr1:171749558-171751236	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1802411	chr1:171749665-171751051	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv522889	chr1:171749665-171755071	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:171749000-171749800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:171749000-171749800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:171749000-171750200	Flanking Active TSS	Dnd41	blood
5	chr1:171749200-171749800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:171749200-171749800	Enhancers	Hela-S3	cervix
7	chr1:171749400-171749800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:171749400-171749800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:171749400-171749800	Enhancers	Primary B cells from cord blood	blood
10	chr1:171749400-171749800	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:171749400-171749800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:171749400-171749800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:171749400-171749800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:171749400-171749800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:171749400-171749800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:171749400-171749800	Enhancers	HepG2	liver
17	chr1:171749400-171749800	Enhancers	NHDF-Ad	bronchial
18	chr1:171749400-171749800	Enhancers	NHEK	skin
19	chr1:171749400-171749800	Enhancers	NHLF	lung
20	chr1:171749400-171750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:171749400-171750000	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr1:171749400-171750200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:171749400-171750200	Flanking Active TSS	K562	blood
24	chr1:171749600-171749800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:171749600-171749800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:171749600-171749800	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:171749600-171749800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:171749600-171749800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:171749600-171749800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:171749600-171749800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:171749600-171749800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:171749600-171749800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:171749600-171749800	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:171749600-171749800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:171749600-171749800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:171749600-171749800	Active TSS	Fetal Lung	lung
37	chr1:171749600-171749800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:171749600-171749800	Enhancers	Placenta	Placenta
39	chr1:171749600-171749800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:171749600-171749800	Enhancers	Right Atrium	heart
41	chr1:171749600-171749800	Enhancers	Right Ventricle	heart
42	chr1:171749600-171749800	Enhancers	HMEC	breast
43	chr1:171749600-171749800	Enhancers	HSMM	muscle
44	chr1:171749600-171749800	Enhancers	HUVEC	blood vessel
45	chr1:171749600-171749800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:171749600-171749800	Enhancers	Osteobl	bone
47	chr1:171749600-171750000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:171749600-171750000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr1:171749600-171750000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:171749600-171750000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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