Variant report

Variant	rs74124661
Chromosome Location	chr1:161171953-161171954
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:445)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr1:161171788-161172407	K562	blood:	n/a	n/a
2	CREB1	chr1:161171644-161172423	K562	blood:	n/a	n/a
3	GABPA	chr1:161171093-161172516	HL-60	blood:	n/a	n/a
4	CREB1	chr1:161171786-161172628	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:161171694-161172531	GM12891	blood:	n/a	n/a
6	HEY1	chr1:161171682-161172627	K562	blood:	n/a	n/a
7	TAF1	chr1:161171618-161172719	H1-neurons	neurons:	n/a	n/a
8	MXI1	chr1:161171769-161172611	HepG2	liver:	n/a	n/a
9	EGR1	chr1:161171454-161172716	HCT-116	colon:	n/a	n/a
10	POLR2A	chr1:161168167-161172509	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr1:161171699-161172604	GM12878	blood:	n/a	n/a
12	TCF12	chr1:161171831-161172593	A549	lung:	n/a	n/a
13	FOS	chr1:161171951-161172189	MCF10A-Er-Src	breast:	n/a	n/a
14	ELF1	chr1:161171613-161172657	MCF-7	breast:	n/a	n/a
15	BRCA1	chr1:161171896-161172096	GM12878	blood:	n/a	n/a
16	HEY1	chr1:161171702-161172395	K562	blood:	n/a	n/a
17	POLR2A	chr1:161171774-161172532	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA2	chr1:161170916-161172161	HUVEC	blood vessel:	n/a	chr1:161171253-161171264 chr1:161171048-161171059
19	MYBL2	chr1:161171733-161172581	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:161169757-161172690	HUVEC	blood vessel:	n/a	n/a
21	GABPA	chr1:161171587-161172611	A549	lung:	n/a	n/a
22	SRF	chr1:161171575-161172286	ECC-1	luminal epithelium:	n/a	chr1:161171752-161171769 chr1:161171752-161171770 chr1:161171753-161171768 chr1:161171755-161171769
23	MAFK	chr1:161171933-161172279	HepG2	liver:	n/a	n/a
24	CHD2	chr1:161171680-161172582	H1-hESC	embryonic stem cell:	n/a	n/a
25	THAP1	chr1:161171315-161172497	K562	blood:	n/a	chr1:161171341-161171365
26	TAF1	chr1:161171843-161172627	K562	blood:	n/a	n/a
27	POLR2A	chr1:161171789-161172554	ProgFib	skin:	n/a	n/a
28	MYC	chr1:161171801-161172234	MCF10A-Er-Src	breast:	n/a	n/a
29	MAX	chr1:161171728-161172590	H1-hESC	embryonic stem cell:	n/a	n/a
30	GTF2F1	chr1:161171822-161172549	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:161171728-161172715	HepG2	liver:	n/a	n/a
32	TAF1	chr1:161171848-161172422	GM12892	blood:	n/a	n/a
33	TAF1	chr1:161171726-161172491	GM12878	blood:	n/a	n/a
34	ZNF384	chr1:161171946-161172422	K562	blood:	n/a	n/a
35	ELF1	chr1:161171779-161172436	K562	blood:	n/a	n/a
36	JUND	chr1:161171229-161172480	H1-hESC	embryonic stem cell:	n/a	n/a
37	KAP1	chr1:161171787-161172722	U2OS	brain:	n/a	n/a
38	YY1	chr1:161171587-161172514	GM12892	blood:	n/a	chr1:161171975-161171987 chr1:161171631-161171642 chr1:161172165-161172185
39	EBF1	chr1:161171848-161172240	GM12878	blood:	n/a	n/a
40	YY1	chr1:161171200-161172650	K562	blood:	n/a	chr1:161171975-161171987 chr1:161171631-161171642 chr1:161172165-161172185
41	TAF7	chr1:161171890-161172464	H1-hESC	embryonic stem cell:	n/a	n/a
42	RELA	chr1:161171820-161172556	GM10847	blood:	n/a	n/a
43	POLR2A	chr1:161170744-161172655	HL-60	blood:	n/a	n/a
44	WRNIP1	chr1:161171863-161172710	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:161171892-161172527	HCT-116	colon:	n/a	n/a
46	RUNX3	chr1:161171710-161172590	GM12878	blood:	n/a	n/a
47	ZNF143	chr1:161171494-161172609	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:161171751-161172517	GM12878	blood:	n/a	n/a
49	MXI1	chr1:161171653-161172591	K562	blood:	n/a	n/a
50	TAF1	chr1:161171899-161172625	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:161165177..161166980-chr1:161171172..161173664,3	MCF-7	breast:
2	chr1:160989864..160992775-chr1:161169949..161172743,2	MCF-7	breast:
3	chr1:161171862..161172886-chr1:161196277..161197553,3	K562	blood:
4	chr1:161171615..161172146-chr19:53606421..53607387,2	Hela-S3	cervix:
5	chr1:161170229..161173658-chr1:161194306..161198397,5	MCF-7	breast:
6	chr1:161129146..161131988-chr1:161170465..161172275,2	MCF-7	breast:
7	chr1:161136333..161138132-chr1:161170864..161173587,2	K562	blood:
8	chr1:161141524..161143840-chr1:161170719..161172655,2	MCF-7	breast:
9	chr1:161128751..161130724-chr1:161170850..161173844,2	MCF-7	breast:
10	chr1:161144879..161147877-chr1:161169961..161172564,2	K562	blood:
11	chr1:161170756..161173506-chr1:161282085..161284207,2	MCF-7	breast:
12	chr1:161145403..161148236-chr1:161171052..161173783,2	MCF-7	breast:
13	chr1:161166987..161169982-chr1:161170593..161173822,5	MCF-7	breast:
14	chr1:161170920..161172634-chr1:161367719..161371418,3	K562	blood:
15	chr1:161128018..161129911-chr1:161170467..161173789,3	K562	blood:
16	chr1:161146561..161149011-chr1:161170994..161172793,2	K562	blood:
17	chr1:161168408..161172447-chr1:161188045..161190714,3	K562	blood:
18	chr1:161127959..161129889-chr1:161169079..161171967,3	K562	blood:
19	chr1:161171378..161172372-chr20:62371910..62372639,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ADAMTS4	TF binding region
NDUFS2	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000206921	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000125520	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000268387	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000170949	Chromatin interaction
ENSG00000224985	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000143252	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56758346	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161168400-161172000	Flanking Active TSS	HepG2	liver
2	chr1:161169800-161172000	Flanking Active TSS	K562	blood
3	chr1:161170000-161172000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:161170400-161173200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr1:161170600-161172000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:161170800-161172000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:161170800-161172000	Flanking Active TSS	Fetal Lung	lung
8	chr1:161170800-161172000	Flanking Active TSS	NHLF	lung
9	chr1:161171000-161172000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr1:161171000-161172000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:161171000-161172000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr1:161171000-161172000	Flanking Active TSS	Dnd41	blood
13	chr1:161171000-161172000	Flanking Active TSS	HUVEC	blood vessel
14	chr1:161171000-161172000	Flanking Active TSS	NHEK	skin
15	chr1:161171000-161172200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:161171000-161173400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:161171200-161172000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:161171200-161172000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr1:161171200-161172000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:161171200-161172000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr1:161171200-161172000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr1:161171200-161172000	Flanking Active TSS	Hela-S3	cervix
23	chr1:161171200-161172000	Flanking Active TSS	HSMMtube	muscle
24	chr1:161171200-161172000	Flanking Active TSS	Osteobl	bone
25	chr1:161171200-161172400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:161171200-161173000	Active TSS	Ovary	ovary
27	chr1:161171400-161172000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr1:161171400-161172000	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr1:161171400-161172000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr1:161171400-161172000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:161171400-161172000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr1:161171400-161172000	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr1:161171400-161172000	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr1:161171400-161172000	Flanking Active TSS	GM12878-XiMat	blood
35	chr1:161171400-161172000	Flanking Active TSS	NH-A	brain
36	chr1:161171400-161172600	Active TSS	Colon Smooth Muscle	Colon
37	chr1:161171400-161173000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:161171400-161173000	Active TSS	Right Ventricle	heart
39	chr1:161171400-161173200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr1:161171400-161173200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:161171400-161173200	Active TSS	Psoas Muscle	Psoas
42	chr1:161171600-161172000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr1:161171600-161172000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:161171600-161172000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:161171600-161172000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:161171600-161172000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:161171600-161172000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:161171600-161172000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:161171600-161172000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr1:161171600-161172000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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