Variant report

Variant	rs192069094
Chromosome Location	chr1:224622764-224622765
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:380)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr1:224622361-224622938	K562	blood:	n/a	n/a
2	MAX	chr1:224622382-224623283	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:224620773-224622966	H1-neurons	neurons:	n/a	n/a
4	KAP1	chr1:224622625-224623298	HEK293	kidney:	n/a	n/a
5	YY1	chr1:224622361-224623096	ECC-1	luminal epithelium:	n/a	chr1:224622898-224622909
6	MAX	chr1:224622386-224623011	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:224622145-224623102	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:224622192-224623088	MCF-7	breast:	n/a	n/a
9	MAX	chr1:224622368-224623475	K562	blood:	n/a	n/a
10	POLR2A	chr1:224622296-224623507	K562	blood:	n/a	n/a
11	POLR2A	chr1:224621186-224623237	GM19193	blood:	n/a	n/a
12	POLR2A	chr1:224621161-224623458	Raji	blood:	n/a	n/a
13	YY1	chr1:224622334-224622886	K562	blood:	n/a	n/a
14	GABPA	chr1:224622259-224623068	A549	lung:	n/a	n/a
15	POLR2A	chr1:224622333-224623541	K562	blood:	n/a	n/a
16	POLR2A	chr1:224622267-224622957	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:224622280-224624163	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr1:224622423-224623586	K562	blood:	n/a	chr1:224622987-224622998
19	YY1	chr1:224622363-224623032	ECC-1	luminal epithelium:	n/a	chr1:224622898-224622909
20	POLR2A	chr1:224622197-224623322	GM12891	blood:	n/a	n/a
21	TCF12	chr1:224622357-224623355	ECC-1	luminal epithelium:	n/a	n/a
22	RUNX3	chr1:224622363-224623329	GM12878	blood:	n/a	n/a
23	ZBTB7A	chr1:224622084-224623116	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr1:224622344-224622892	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr1:224622233-224622916	HCT-116	colon:	n/a	n/a
26	POLR2A	chr1:224621852-224623553	K562	blood:	n/a	n/a
27	GABPA	chr1:224622194-224623124	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr1:224622386-224622873	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:224619112-224623610	IMR90	lung:	n/a	n/a
30	POLR2A	chr1:224622269-224623349	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:224622333-224622912	A549	lung:	n/a	n/a
32	CTCF	chr1:224622760-224622910	GM12865	blood:	n/a	n/a
33	CBX3	chr1:224622348-224623594	K562	blood:	n/a	n/a
34	GTF2F1	chr1:224622388-224623439	Hela-S3	cervix:	n/a	n/a
35	MYC	chr1:224622379-224623426	K562	blood:	n/a	n/a
36	ZNF384	chr1:224622427-224622833	K562	blood:	n/a	n/a
37	POLR2A	chr1:224622264-224622969	GM12892	blood:	n/a	n/a
38	GABPA	chr1:224622213-224622885	HL-60	blood:	n/a	n/a
39	POLR2A	chr1:224621383-224623145	MCF-7	breast:	n/a	n/a
40	YY1	chr1:224622361-224622862	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr1:224622248-224623666	K562	blood:	n/a	n/a
42	MAZ	chr1:224622430-224622970	Hela-S3	cervix:	n/a	n/a
43	MAX	chr1:224622383-224623131	MCF-7	breast:	n/a	n/a
44	TRIM28	chr1:224622332-224623552	K562	blood:	n/a	n/a
45	TBL1XR1	chr1:224622555-224623351	K562	blood:	n/a	n/a
46	POLR2A	chr1:224622300-224622934	A549	lung:	n/a	n/a
47	ZC3H11A	chr1:224622418-224623357	K562	blood:	n/a	n/a
48	MXI1	chr1:224622177-224624682	SK-N-SH	brain:	n/a	n/a
49	TAF1	chr1:224622321-224622980	A549	lung:	n/a	n/a
50	UBTF	chr1:224621421-224623388	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224621434..224624086-chr12:120727815..120730107,2	MCF-7	breast:
2	chr1:224595603..224601847-chr1:224621020..224623770,7	MCF-7	breast:
3	chr1:224622290..224622794-chr10:98591846..98592614,2	Hela-S3	cervix:
4	chr1:224544325..224548164-chr1:224620481..224623704,4	K562	blood:
5	chr1:224543329..224547108-chr1:224619239..224622996,5	MCF-7	breast:
6	chr1:224620020..224622844-chr1:224624641..224626201,2	MCF-7	breast:
7	chr1:224586518..224588836-chr1:224621196..224623489,2	MCF-7	breast:
8	chr1:224585388..224587684-chr1:224620366..224622924,3	K562	blood:
9	chr1:224301465..224303000-chr1:224620703..224623446,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNIH3-2	chr1:224622627-224622889	NONHSAT009804
2	lnc-CNIH3-2	chr1:224622614-224622889	NONHSAT009803

No data

Variant related genes	Relation type
WDR26	TF binding region
ENSG00000143756	Chromatin interaction
ENSG00000196233	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000162923	Chromatin interaction
ENSG00000143771	Chromatin interaction
ENSG00000266618	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS 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	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3422629	chr1:224620954-224623702	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3353372	chr1:224621279-224623577	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:224618400-224622800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:224618400-224623400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:224618400-224623400	Active TSS	Right Atrium	heart
4	chr1:224618400-224623600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:224618600-224623400	Active TSS	Aorta	Aorta
6	chr1:224618800-224622800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:224618800-224623000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:224619400-224623000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:224619400-224623200	Active TSS	Right Ventricle	heart
10	chr1:224619600-224622800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:224619600-224622800	Active TSS	Primary T cells fromperipheralblood	blood
12	chr1:224619600-224623000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:224619600-224623000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:224619600-224623200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:224619600-224623200	Active TSS	Fetal Intestine Large	intestine
16	chr1:224619600-224623200	Active TSS	GM12878-XiMat	blood
17	chr1:224619600-224623200	Active TSS	HSMMtube	muscle
18	chr1:224619600-224623400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:224619600-224623800	Active TSS	Psoas Muscle	Psoas
20	chr1:224619800-224622800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:224619800-224622800	Active TSS	Colonic Mucosa	Colon
22	chr1:224619800-224623000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:224619800-224623000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:224619800-224623000	Active TSS	Colon Smooth Muscle	Colon
25	chr1:224619800-224623000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:224619800-224623000	Active TSS	Fetal Thymus	thymus
27	chr1:224619800-224623200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:224619800-224623400	Active TSS	NHLF	lung
29	chr1:224619800-224623600	Active TSS	NHDF-Ad	bronchial
30	chr1:224620000-224622800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:224620000-224623000	Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:224620000-224623400	Active TSS	Ovary	ovary
33	chr1:224620000-224624000	Active TSS	Fetal Intestine Small	intestine
34	chr1:224620200-224622800	Active TSS	Fetal Muscle Trunk	muscle
35	chr1:224620200-224622800	Active TSS	Left Ventricle	heart
36	chr1:224620200-224622800	Active TSS	NH-A	brain
37	chr1:224620200-224623400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:224620400-224622800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:224620400-224623000	Active TSS	Brain Substantia Nigra	brain
40	chr1:224620400-224623200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:224620400-224623200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:224620400-224623200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:224620400-224623400	Active TSS	Esophagus	oesophagus
44	chr1:224620400-224623400	Active TSS	Fetal Kidney	kidney
45	chr1:224620400-224623400	Active TSS	Lung	lung
46	chr1:224620600-224622800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:224620600-224622800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:224620600-224622800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:224620600-224622800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:224620600-224622800	Active TSS	Pancreas	Pancrea

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