Variant report

Variant	rs551238987
Chromosome Location	chr1:226069707-226069708
allele	C/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	EGR1	chr1:226069229-226070077	K562	blood:	n/a	chr1:226069488-226069498 chr1:226069483-226069505 chr1:226069488-226069501 chr1:226069488-226069501 chr1:226069487-226069501 chr1:226069489-226069498 chr1:226069845-226069860 chr1:226069488-226069501 chr1:226069485-226069499 chr1:226069487-226069502 chr1:226069554-226069563 chr1:226069488-226069501
2	POLR2A	chr1:226069203-226071113	K562	blood:	n/a	n/a
3	MAX	chr1:226069697-226071236	A549	lung:	n/a	chr1:226070644-226070654
4	UBTF	chr1:226069056-226069714	K562	blood:	n/a	n/a
5	POLR2A	chr1:226069502-226071069	Hela-S3	cervix:	n/a	n/a
6	TBL1XR1	chr1:226069185-226070577	K562	blood:	n/a	n/a
7	POLR2A	chr1:226069535-226070448	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:226069509-226070558	MCF-7	breast:	n/a	n/a
9	HCFC1	chr1:226069406-226070548	K562	blood:	n/a	n/a
10	POLR2A	chr1:226069583-226070609	ProgFib	skin:	n/a	n/a
11	CHD2	chr1:226069384-226071033	K562	blood:	n/a	chr1:226070578-226070588
12	POLR2A	chr1:226069446-226070966	K562	blood:	n/a	n/a
13	ZBTB7A	chr1:226068784-226070952	K562	blood:	n/a	chr1:226070384-226070395
14	POLR2A	chr1:226069574-226070467	GM12878	blood:	n/a	n/a
15	ELF1	chr1:226069223-226070042	K562	blood:	n/a	chr1:226070008-226070017
16	MYC	chr1:226069214-226071116	K562	blood:	n/a	chr1:226070644-226070654
17	TCF12	chr1:226069377-226071229	A549	lung:	n/a	chr1:226069792-226069800 chr1:226069933-226069940 chr1:226070523-226070530
18	UBTF	chr1:226069313-226071120	K562	blood:	n/a	n/a
19	POLR2A	chr1:226069459-226070950	GM18951	blood:	n/a	n/a
20	POLR2A	chr1:226069588-226070536	GM12891	blood:	n/a	n/a
21	ZBTB7A	chr1:226069182-226070413	K562	blood:	n/a	chr1:226070384-226070395
22	TFAP2C	chr1:226069164-226070942	Hela-S3	cervix:	n/a	chr1:226069573-226069588
23	ELF1	chr1:226069231-226070907	GM12878	blood:	n/a	chr1:226070008-226070017 chr1:226070143-226070152 chr1:226070357-226070366
24	JUND	chr1:226069257-226070584	K562	blood:	n/a	chr1:226069762-226069776 chr1:226070263-226070277
25	CTCF	chr1:226069620-226069770	GM12866	blood:	n/a	n/a
26	HEY1	chr1:226069239-226071026	K562	blood:	n/a	chr1:226070734-226070749
27	TAF1	chr1:226069551-226070390	H1-hESC	embryonic stem cell:	n/a	n/a
28	NR2F2	chr1:226068421-226070907	K562	blood:	n/a	n/a
29	POLR2A	chr1:226069239-226070667	PFSK-1	brain:	n/a	n/a
30	IRF1	chr1:226069517-226070411	K562	blood:	n/a	chr1:226069753-226069766 chr1:226070069-226070080 chr1:226070067-226070080
31	MAX	chr1:226069672-226070125	A549	lung:	n/a	n/a
32	CHD2	chr1:226069350-226070363	Hela-S3	cervix:	n/a	n/a
33	YY1	chr1:226069344-226071024	K562	blood:	n/a	chr1:226070008-226070017 chr1:226070006-226070017 chr1:226070143-226070152 chr1:226070581-226070592 chr1:226069490-226069499
34	HEY1	chr1:226069395-226070675	K562	blood:	n/a	n/a
35	CTCF	chr1:226069680-226069830	GM12873	blood:	n/a	n/a
36	TEAD4	chr1:226069109-226071113	K562	blood:	n/a	n/a
37	POLR2A	chr1:226069561-226070947	GM18505	blood:	n/a	n/a
38	BHLHE40	chr1:226069619-226070846	K562	blood:	n/a	n/a
39	POLR2A	chr1:226069368-226070931	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:226069582-226070614	NB4	blood:	n/a	n/a
41	SIN3AK20	chr1:226069317-226071147	MCF-7	breast:	n/a	n/a
42	MYC	chr1:226069510-226070381	NB4	blood:	n/a	n/a
43	POLR2A	chr1:226068894-226071165	H1-hESC	embryonic stem cell:	n/a	n/a
44	MTA3	chr1:226068766-226071109	GM12878	blood:	n/a	n/a
45	CHD1	chr1:226069599-226069769	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:226069457-226071100	Hela-S3	cervix:	n/a	n/a
47	MXI1	chr1:226069319-226070989	GM12878	blood:	n/a	chr1:226070774-226070789
48	POLR2A	chr1:226069233-226069820	K562	blood:	n/a	n/a
49	GTF2F1	chr1:226069540-226070554	K562	blood:	n/a	n/a
50	EP300	chr1:226069320-226070198	T-47D	breast:	n/a	chr1:226070007-226070016

No.	Distal block	Cell Line	Cell type
1	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:
2	chr1:226053217..226056086-chr1:226069002..226071584,2	MCF-7	breast:
3	chr1:226067757..226070388-chr1:226097360..226099727,2	MCF-7	breast:
4	chr1:226068960..226071215-chr11:62609040..62611080,2	MCF-7	breast:
5	chr1:225964533..225968744-chr1:226068261..226071590,3	MCF-7	breast:
6	chr1:226035721..226038687-chr1:226067702..226069898,2	K562	blood:
7	chr1:226032510..226034899-chr1:226069383..226071490,2	MCF-7	breast:
8	chr1:226053727..226055880-chr1:226069290..226070897,2	MCF-7	breast:
9	chr1:226068530..226073051-chr1:226075073..226079547,5	MCF-7	breast:
10	chr1:226069198..226071720-chr1:226149361..226151916,2	MCF-7	breast:
11	chr1:226047047..226048850-chr1:226067848..226071913,3	MCF-7	breast:
12	chr1:226067837..226071624-chr1:226184531..226189088,6	K562	blood:
13	chr1:226054269..226057848-chr1:226069122..226072255,3	K562	blood:
14	chr1:226069701..226070650-chr5:442377..443321,2	Hela-S3	cervix:
15	chr1:225963541..225967644-chr1:226069236..226073918,5	MCF-7	breast:
16	chr1:119682798..119683560-chr1:226069418..226070191,2	NB4	blood:
17	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
18	chr1:226067470..226074101-chr1:226108823..226116408,13	MCF-7	breast:
19	chr1:226066914..226069709-chr1:226309865..226312651,2	K562	blood:

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000213032	Chromatin interaction
ENSG00000231365	Chromatin interaction
ENSG00000242861	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000221990	Chromatin interaction
ENSG00000116874	Chromatin interaction
ENSG00000180104	Chromatin interaction
ENSG00000243709	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv3354874	chr1:226069354-226072202	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 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	chr1:226066400-226070000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:226067000-226070000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:226067200-226069800	Flanking Active TSS	Fetal Thymus	thymus
4	chr1:226067200-226070000	Flanking Active TSS	Dnd41	blood
5	chr1:226067200-226071000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:226067400-226069800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:226067800-226070000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:226067800-226070000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:226068000-226069800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:226068000-226069800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr1:226068200-226070000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:226068600-226070600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
13	chr1:226068600-226071200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:226068600-226072000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:226068800-226069800	Active TSS	Right Atrium	heart
16	chr1:226068800-226070000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:226068800-226071000	Active TSS	Lung	lung
18	chr1:226068800-226071200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:226068800-226071200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:226068800-226071200	Active TSS	Aorta	Aorta
21	chr1:226069000-226069800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:226069000-226069800	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr1:226069000-226069800	Flanking Active TSS	Placenta	Placenta
24	chr1:226069000-226071000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:226069000-226071000	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr1:226069000-226071000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr1:226069000-226071000	Active TSS	Small Intestine	intestine
28	chr1:226069000-226071200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:226069000-226071200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:226069000-226071200	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr1:226069000-226071200	Active TSS	Fetal Kidney	kidney
32	chr1:226069000-226071200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr1:226069000-226071200	Active TSS	Pancreas	Pancrea
34	chr1:226069000-226071400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:226069200-226069800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:226069200-226070000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
37	chr1:226069200-226070800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:226069200-226070800	Active TSS	Primary T cells from cord blood	blood
39	chr1:226069200-226071000	Active TSS	Stomach Mucosa	stomach
40	chr1:226069200-226071000	Bivalent/Poised TSS	HepG2	liver
41	chr1:226069200-226071000	Active TSS	HSMMtube	muscle
42	chr1:226069200-226071200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:226069200-226071200	Active TSS	Ovary	ovary
44	chr1:226069200-226071200	Active TSS	NHDF-Ad	bronchial
45	chr1:226069400-226070200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:226069400-226070400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:226069400-226070400	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:226069400-226070400	Active TSS	NH-A	brain
49	chr1:226069400-226070400	Active TSS	NHEK	skin
50	chr1:226069400-226070600	Active TSS	Primary T cells fromperipheralblood	blood

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