Variant report

Variant	rs202137376
Chromosome Location	chr1:224621614-224621615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:224621314-224622121	K562	blood:	n/a	n/a
2	ZNF263	chr1:224621581-224622140	K562	blood:	n/a	chr1:224622061-224622070 chr1:224621906-224621927
3	POLR2A	chr1:224620773-224622966	H1-neurons	neurons:	n/a	n/a
4	FOXA2	chr1:224621304-224621803	A549	lung:	n/a	n/a
5	EGR1	chr1:224621470-224622111	GM12878	blood:	n/a	chr1:224622025-224622035 chr1:224622022-224622037 chr1:224622023-224622037 chr1:224622026-224622036 chr1:224622023-224622036 chr1:224622023-224622036 chr1:224622023-224622036 chr1:224621772-224621786 chr1:224622023-224622036 chr1:224622026-224622035 chr1:224621742-224621756
6	MXI1	chr1:224621464-224621714	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:224621524-224621721	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:224621186-224623237	GM19193	blood:	n/a	n/a
9	POLR2A	chr1:224621161-224623458	Raji	blood:	n/a	n/a
10	ELF1	chr1:224621414-224622118	K562	blood:	n/a	chr1:224621854-224621866 chr1:224621857-224621869
11	ELF1	chr1:224621433-224622096	GM12878	blood:	n/a	chr1:224621854-224621866 chr1:224621857-224621869
12	CTCF	chr1:224621540-224621690	SAEC	small airway:	n/a	n/a
13	POLR2A	chr1:224619112-224623610	IMR90	lung:	n/a	n/a
14	POLR2A	chr1:224621383-224623145	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:224621308-224621669	ECC-1	luminal epithelium:	n/a	n/a
16	UBTF	chr1:224621421-224623388	K562	blood:	n/a	n/a
17	POLR2A	chr1:224621499-224623220	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:224620286-224621738	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:224620408-224621730	MCF-7	breast:	n/a	n/a
20	ELF1	chr1:224621398-224622118	GM12878	blood:	n/a	chr1:224621854-224621866 chr1:224621857-224621869
21	SIN3AK20	chr1:224620809-224622145	MCF-7	breast:	n/a	n/a
22	POLR2A	chr1:224621307-224621726	SK-N-MC	brain:	n/a	n/a
23	EGR1	chr1:224621289-224622118	K562	blood:	n/a	chr1:224622025-224622035 chr1:224622022-224622037 chr1:224622023-224622037 chr1:224622026-224622036 chr1:224622023-224622036 chr1:224622023-224622036 chr1:224622023-224622036 chr1:224621772-224621786 chr1:224622023-224622036 chr1:224622026-224622035 chr1:224621742-224621756
24	MAX	chr1:224621354-224622115	K562	blood:	n/a	n/a
25	UBTF	chr1:224620417-224623494	K562	blood:	n/a	n/a
26	HEY1	chr1:224621311-224621738	K562	blood:	n/a	n/a
27	CHD1	chr1:224619829-224624127	IMR90	lung:	n/a	chr1:224622029-224622039 chr1:224621298-224621308
28	POLR2A	chr1:224621384-224621692	HUVEC	blood vessel:	n/a	n/a
29	EGR1	chr1:224621400-224622141	K562	blood:	n/a	chr1:224622025-224622035 chr1:224622022-224622037 chr1:224622023-224622037 chr1:224622026-224622036 chr1:224622023-224622036 chr1:224622023-224622036 chr1:224622023-224622036 chr1:224621772-224621786 chr1:224622023-224622036 chr1:224622026-224622035 chr1:224621742-224621756
30	POLR2A	chr1:224621344-224622109	A549	lung:	n/a	n/a
31	POLR2A	chr1:224620809-224623259	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:224620926-224623531	Hela-S3	cervix:	n/a	n/a
33	FOXA2	chr1:224621336-224621950	A549	lung:	n/a	n/a
34	POLR2A	chr1:224621308-224622112	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:224621300-224621712	GM12891	blood:	n/a	n/a
36	POLR2A	chr1:224621465-224622983	ProgFib	skin:	n/a	n/a
37	POLR2A	chr1:224621449-224621945	HCT-116	colon:	n/a	n/a
38	POLR2A	chr1:224621036-224623249	GM15510	blood:	n/a	n/a
39	SIN3AK20	chr1:224621297-224622142	K562	blood:	n/a	n/a
40	POLR2A	chr1:224621553-224622043	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOXA1	chr1:224621364-224621663	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:224621330-224623156	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr1:224620805-224621769	H1-hESC	embryonic stem cell:	n/a	n/a
44	CCNT2	chr1:224621435-224622066	K562	blood:	n/a	chr1:224622028-224622037
45	POLR2A	chr1:224621259-224622116	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:224620268-224621730	K562	blood:	n/a	n/a
47	MAX	chr1:224621537-224621994	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:224620883-224623409	Hela-S3	cervix:	n/a	n/a
49	MAZ	chr1:224621413-224623448	K562	blood:	n/a	chr1:224622275-224622285
50	POLR2A	chr1:224620733-224622140	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:224370348..224372775-chr1:224619496..224622200,4	K562	blood:
2	chr1:224621434..224624086-chr12:120727815..120730107,2	MCF-7	breast:
3	chr1:224595603..224601847-chr1:224621020..224623770,7	MCF-7	breast:
4	chr1:224544325..224548164-chr1:224620481..224623704,4	K562	blood:
5	chr1:224543329..224547108-chr1:224619239..224622996,5	MCF-7	breast:
6	chr1:224370348..224372410-chr1:224620146..224621939,2	K562	blood:
7	chr1:224620020..224622844-chr1:224624641..224626201,2	MCF-7	breast:
8	chr1:224586518..224588836-chr1:224621196..224623489,2	MCF-7	breast:
9	chr1:224585388..224587684-chr1:224620366..224622924,3	K562	blood:
10	chr1:224300372..224302965-chr1:224620010..224622203,2	K562	blood:
11	chr1:224301465..224303000-chr1:224620703..224623446,2	K562	blood:

Variant related genes	Relation type
CNIH3	TF binding region
WDR26	TF binding region
ENSG00000143771	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000143756	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000162923	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	chr1:224618800-224621800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224618800-224622800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:224618800-224623000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:224619200-224621800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:224619400-224623000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:224619400-224623200	Active TSS	Right Ventricle	heart
12	chr1:224619600-224622600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:224619600-224622800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:224619600-224622800	Active TSS	Primary T cells fromperipheralblood	blood
15	chr1:224619600-224623000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:224619600-224623000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:224619600-224623200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:224619600-224623200	Active TSS	Fetal Intestine Large	intestine
19	chr1:224619600-224623200	Active TSS	GM12878-XiMat	blood
20	chr1:224619600-224623200	Active TSS	HSMMtube	muscle
21	chr1:224619600-224623400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:224619600-224623800	Active TSS	Psoas Muscle	Psoas
23	chr1:224619800-224622800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:224619800-224622800	Active TSS	Colonic Mucosa	Colon
25	chr1:224619800-224623000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:224619800-224623000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:224619800-224623000	Active TSS	Colon Smooth Muscle	Colon
28	chr1:224619800-224623000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:224619800-224623000	Active TSS	Fetal Thymus	thymus
30	chr1:224619800-224623200	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr1:224619800-224623400	Active TSS	NHLF	lung
32	chr1:224619800-224623600	Active TSS	NHDF-Ad	bronchial
33	chr1:224620000-224622800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:224620000-224623000	Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:224620000-224623400	Active TSS	Ovary	ovary
36	chr1:224620000-224624000	Active TSS	Fetal Intestine Small	intestine
37	chr1:224620200-224622600	Active TSS	Placenta	Placenta
38	chr1:224620200-224622800	Active TSS	Fetal Muscle Trunk	muscle
39	chr1:224620200-224622800	Active TSS	Left Ventricle	heart
40	chr1:224620200-224622800	Active TSS	NH-A	brain
41	chr1:224620200-224623400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr1:224620400-224622800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:224620400-224623000	Active TSS	Brain Substantia Nigra	brain
44	chr1:224620400-224623200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:224620400-224623200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:224620400-224623200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr1:224620400-224623400	Active TSS	Esophagus	oesophagus
48	chr1:224620400-224623400	Active TSS	Fetal Kidney	kidney
49	chr1:224620400-224623400	Active TSS	Lung	lung
50	chr1:224620600-224622800	Active TSS	H1 Cell Line	embryonic stem cell

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