Variant report

Variant	rs368219464
Chromosome Location	chr1:228401262-228401263
allele	C/T
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	MYC	chr1:228401194-228401519	K562	blood:	n/a	n/a
2	RCOR1	chr1:228401212-228401396	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:228400841-228401385	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:228401205-228401477	A549	lung:	n/a	n/a
5	CEBPB	chr1:228401189-228401413	IMR90	lung:	n/a	n/a
6	RAD21	chr1:228401165-228401558	IMR90	lung:	n/a	n/a
7	BRCA1	chr1:228401247-228401364	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:228401209-228401481	Gliobla	brain:	n/a	n/a
9	CTCF	chr1:228401260-228401410	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr1:228401188-228401446	SK-N-SH_RA	brain:	n/a	n/a
11	POLR2A	chr1:228401127-228401412	A549	lung:	n/a	n/a
12	CTCF	chr1:228401168-228401567	GM12878	blood:	n/a	n/a
13	CTCF	chr1:228401107-228401448	T-47D	breast:	n/a	n/a
14	BCLAF1	chr1:228401157-228401400	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:228401027-228401493	IMR90	lung:	n/a	n/a
16	MAX	chr1:228400729-228401576	K562	blood:	n/a	n/a
17	SP1	chr1:228400767-228401611	A549	lung:	n/a	chr1:228400779-228400790 chr1:228401107-228401116 chr1:228401106-228401118 chr1:228400793-228400804 chr1:228401107-228401116 chr1:228401106-228401118 chr1:228401108-228401117 chr1:228401107-228401117 chr1:228401107-228401121 chr1:228401107-228401117
18	CTCF	chr1:228401240-228401390	HPF	lung:	n/a	n/a
19	TCF12	chr1:228400828-228401482	A549	lung:	n/a	n/a
20	POLR2A	chr1:228401138-228401396	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:228401200-228401502	GM19239	blood:	n/a	n/a
22	EBF1	chr1:228401041-228401429	GM12878	blood:	n/a	n/a
23	CTCF	chr1:228401197-228401493	Fibrobl	skin:	n/a	n/a
24	FOXP2	chr1:228401154-228401487	PFSK-1	brain:	n/a	n/a
25	MAX	chr1:228399607-228402252	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXA2	chr1:228401039-228401509	A549	lung:	n/a	n/a
27	RAD21	chr1:228401178-228401485	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:228401084-228401415	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:228401164-228401386	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr1:228401212-228401464	HepG2	liver:	n/a	n/a
31	GABPA	chr1:228400715-228401474	K562	blood:	n/a	n/a
32	MYC	chr1:228401176-228401450	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:228401260-228401410	GM12872	blood:	n/a	n/a
34	EGR1	chr1:228401240-228401980	K562	blood:	n/a	chr1:228401631-228401645 chr1:228401596-228401610
35	CTCF	chr1:228401260-228401410	GM12869	blood:	n/a	n/a
36	POLR2A	chr1:228401152-228401352	MCF10A-Er-Src	breast:	n/a	n/a
37	REST	chr1:228401105-228401387	A549	lung:	n/a	n/a
38	MAX	chr1:228400889-228401613	A549	lung:	n/a	n/a
39	E2F6	chr1:228401113-228401523	K562	blood:	n/a	n/a
40	FOXA1	chr1:228401212-228401433	T-47D	breast:	n/a	n/a
41	GTF2F1	chr1:228401228-228401418	Hela-S3	cervix:	n/a	n/a
42	BCL3	chr1:228401080-228401459	A549	lung:	n/a	n/a
43	TAF1	chr1:228401183-228401449	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr1:228401082-228401619	MCF-7	breast:	n/a	n/a
45	ELF1	chr1:228400579-228401608	MCF-7	breast:	n/a	chr1:228400871-228400884
46	MAX	chr1:228401012-228401595	HepG2	liver:	n/a	n/a
47	E2F6	chr1:228400963-228401569	A549	lung:	n/a	chr1:228401046-228401053 chr1:228401045-228401057 chr1:228401046-228401053 chr1:228401046-228401053
48	POLR2A	chr1:228400760-228401483	Raji	blood:	n/a	n/a
49	TEAD4	chr1:228401158-228401479	K562	blood:	n/a	n/a
50	YY1	chr1:228401183-228401487	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
2	chr1:228400032..228401961-chr1:228675104..228677391,2	MCF-7	breast:
3	chr1:228400809..228401396-chr19:36631414..36632120,2	Hela-S3	cervix:
4	chr1:228399534..228402324-chr1:228461653..228463776,2	MCF-7	breast:
5	chr1:228352180..228354320-chr1:228400730..228402843,3	MCF-7	breast:
6	chr1:228270338..228271968-chr1:228400103..228402238,2	MCF-7	breast:
7	chr1:228399724..228401498-chr1:228644939..228647172,2	MCF-7	breast:
8	chr1:228399573..228401373-chr1:228480199..228482605,2	K562	blood:
9	chr1:228400118..228403034-chr1:228591844..228593875,2	MCF-7	breast:
10	chr1:228400987..228403639-chr1:228644070..228647036,3	K562	blood:
11	chr1:228401076..228403639-chr1:228645192..228647036,2	K562	blood:
12	chr1:228360767..228363057-chr1:228399837..228402220,2	MCF-7	breast:

Variant related genes	Relation type
OBSCN	TF binding region
ENSG00000154358	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000269890	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000126247	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	esv3419574	chr1:228397729-228402327	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	esv3397989	chr1:228398279-228402677	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	esv3361766	chr1:228399154-228401702	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
15	esv3358379	chr1:228399204-228403102	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3435334	chr1:228401150-228401577	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228395800-228405200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr1:228398800-228402000	Active TSS	Psoas Muscle	Psoas
3	chr1:228400000-228401800	Active TSS	Thymus	Thymus
4	chr1:228400000-228402400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:228400000-228402600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:228400200-228401400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:228400200-228401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:228400200-228401800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:228400200-228401800	Active TSS	Brain Angular Gyrus	brain
10	chr1:228400200-228402200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:228400200-228402600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:228400400-228401400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr1:228400400-228401400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:228400400-228401400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:228400400-228401400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr1:228400400-228401400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr1:228400400-228401600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:228400400-228401800	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr1:228400400-228401800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr1:228400400-228402000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:228400400-228402000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:228400400-228402000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:228400400-228402000	Active TSS	Fetal Kidney	kidney
24	chr1:228400400-228402000	Active TSS	NHEK	skin
25	chr1:228400400-228402200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:228400400-228402400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:228400400-228403200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:228400600-228401400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:228400600-228401400	Active TSS	Primary T cells from cord blood	blood
30	chr1:228400600-228401600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:228400600-228401600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:228400600-228401600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:228400600-228401600	Active TSS	Right Atrium	heart
34	chr1:228400600-228401600	Active TSS	Dnd41	blood
35	chr1:228400600-228401800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:228400600-228401800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:228400600-228401800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:228400600-228401800	Active TSS	Fetal Intestine Small	intestine
39	chr1:228400600-228401800	Active TSS	Fetal Thymus	thymus
40	chr1:228400600-228401800	Active TSS	Gastric	stomach
41	chr1:228400600-228402000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr1:228400600-228402000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr1:228400600-228402000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:228400600-228402000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:228400600-228402000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:228400600-228402000	Active TSS	Brain Substantia Nigra	brain
47	chr1:228400600-228402000	Active TSS	Duodenum Mucosa	Duodenum
48	chr1:228400600-228402000	Active TSS	Fetal Lung	lung
49	chr1:228400600-228402200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:228400600-228402200	Active TSS	Fetal Intestine Large	intestine

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