Variant report

Variant	rs566554136
Chromosome Location	chr1:224621325-224621326
allele	A/C
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	POLR2A	chr1:224620773-224622966	H1-neurons	neurons:	n/a	n/a
3	FOXA2	chr1:224621304-224621803	A549	lung:	n/a	n/a
4	POLR2A	chr1:224621186-224623237	GM19193	blood:	n/a	n/a
5	POLR2A	chr1:224621161-224623458	Raji	blood:	n/a	n/a
6	POLR2A	chr1:224619112-224623610	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:224621308-224621669	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr1:224620286-224621738	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:224620408-224621730	MCF-7	breast:	n/a	n/a
10	SIN3AK20	chr1:224620809-224622145	MCF-7	breast:	n/a	n/a
11	POLR2A	chr1:224621307-224621726	SK-N-MC	brain:	n/a	n/a
12	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
13	UBTF	chr1:224620417-224623494	K562	blood:	n/a	n/a
14	HEY1	chr1:224621311-224621738	K562	blood:	n/a	n/a
15	CHD1	chr1:224619829-224624127	IMR90	lung:	n/a	chr1:224622029-224622039 chr1:224621298-224621308
16	POLR2A	chr1:224620809-224623259	GM12892	blood:	n/a	n/a
17	POLR2A	chr1:224620104-224621386	GM12892	blood:	n/a	n/a
18	POLR2A	chr1:224620926-224623531	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:224621308-224622112	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:224621300-224621712	GM12891	blood:	n/a	n/a
21	CHD2	chr1:224620807-224621571	GM12878	blood:	n/a	chr1:224621298-224621308
22	POLR2A	chr1:224621036-224623249	GM15510	blood:	n/a	n/a
23	SIN3AK20	chr1:224621297-224622142	K562	blood:	n/a	n/a
24	SIN3AK20	chr1:224620805-224621769	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:224621259-224622116	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:224620268-224621730	K562	blood:	n/a	n/a
27	POLR2A	chr1:224620883-224623409	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:224620733-224622140	HL-60	blood:	n/a	n/a
29	POLR2A	chr1:224620952-224622131	GM12878	blood:	n/a	n/a
30	REST	chr1:224620658-224623307	H1-neurons	neurons:	n/a	chr1:224621873-224621883 chr1:224623071-224623081 chr1:224621849-224621858
31	POLR2A	chr1:224620159-224621704	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:224619091-224622080	K562	blood:	n/a	n/a
33	POLR2A	chr1:224621312-224621585	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3AK20	chr1:224621302-224622109	PANC-1	pancreas:	n/a	n/a
35	SIN3A	chr1:224620297-224623190	H1-hESC	embryonic stem cell:	n/a	chr1:224623072-224623081 chr1:224621814-224621827
36	POLR2A	chr1:224621298-224621712	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:224619206-224622083	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:224621212-224621999	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:224619066-224621596	MCF10A-Er-Src	breast:	n/a	n/a
40	MAZ	chr1:224620250-224623793	IMR90	lung:	n/a	chr1:224622275-224622285 chr1:224621300-224621310
41	POLR2A	chr1:224621300-224622134	GM12892	blood:	n/a	n/a
42	POLR2A	chr1:224618157-224621611	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr1:224620151-224622125	K562	blood:	n/a	n/a
44	POLR2A	chr1:224620829-224623011	H1-neurons	neurons:	n/a	n/a
45	ZNF263	chr1:224620244-224622124	HEK293-T-REx	kidney:	n/a	chr1:224620368-224620377 chr1:224621207-224621216 chr1:224622061-224622070 chr1:224621906-224621927
46	YY1	chr1:224621319-224621697	GM12892	blood:	n/a	n/a
47	POLR2A	chr1:224620173-224621714	GM12878	blood:	n/a	n/a
48	YY1	chr1:224621316-224622123	HepG2	liver:	n/a	chr1:224622028-224622037
49	POLR2A	chr1:224620824-224622129	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:224370348..224372775-chr1:224619496..224622200,4	K562	blood:
2	chr1:224595603..224601847-chr1:224621020..224623770,7	MCF-7	breast:
3	chr1:224544325..224548164-chr1:224620481..224623704,4	K562	blood:
4	chr1:224543329..224547108-chr1:224619239..224622996,5	MCF-7	breast:
5	chr1:224370348..224372410-chr1:224620146..224621939,2	K562	blood:
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	chr1:224300372..224302965-chr1:224620010..224622203,2	K562	blood:
10	chr1:224301465..224303000-chr1:224620703..224623446,2	K562	blood:

Variant related genes	Relation type
CNIH3	TF binding region
ENSG00000143753	Chromatin interaction
ENSG00000162923	Chromatin interaction
ENSG00000266618	Chromatin interaction
ENSG00000143756	Chromatin interaction
ENSG00000143771	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	chr1:224619400-224621400	Active TSS	Brain Germinal Matrix	brain
11	chr1:224619400-224623000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:224619400-224623200	Active TSS	Right Ventricle	heart
13	chr1:224619600-224622600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:224619600-224622800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:224619600-224622800	Active TSS	Primary T cells fromperipheralblood	blood
16	chr1:224619600-224623000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:224619600-224623000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:224619600-224623200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:224619600-224623200	Active TSS	Fetal Intestine Large	intestine
20	chr1:224619600-224623200	Active TSS	GM12878-XiMat	blood
21	chr1:224619600-224623200	Active TSS	HSMMtube	muscle
22	chr1:224619600-224623400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:224619600-224623800	Active TSS	Psoas Muscle	Psoas
24	chr1:224619800-224622800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:224619800-224622800	Active TSS	Colonic Mucosa	Colon
26	chr1:224619800-224623000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:224619800-224623000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:224619800-224623000	Active TSS	Colon Smooth Muscle	Colon
29	chr1:224619800-224623000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:224619800-224623000	Active TSS	Fetal Thymus	thymus
31	chr1:224619800-224623200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr1:224619800-224623400	Active TSS	NHLF	lung
33	chr1:224619800-224623600	Active TSS	NHDF-Ad	bronchial
34	chr1:224620000-224621600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:224620000-224622800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:224620000-224623000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:224620000-224623400	Active TSS	Ovary	ovary
38	chr1:224620000-224624000	Active TSS	Fetal Intestine Small	intestine
39	chr1:224620200-224622600	Active TSS	Placenta	Placenta
40	chr1:224620200-224622800	Active TSS	Fetal Muscle Trunk	muscle
41	chr1:224620200-224622800	Active TSS	Left Ventricle	heart
42	chr1:224620200-224622800	Active TSS	NH-A	brain
43	chr1:224620200-224623400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr1:224620400-224622800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:224620400-224623000	Active TSS	Brain Substantia Nigra	brain
46	chr1:224620400-224623200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:224620400-224623200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:224620400-224623200	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr1:224620400-224623400	Active TSS	Esophagus	oesophagus
50	chr1:224620400-224623400	Active TSS	Fetal Kidney	kidney

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