Variant report

Variant	rs376912307
Chromosome Location	chr1:228675822-228675823
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	POLR2A	chr1:228675488-228676933	PFSK-1	brain:	n/a	n/a
2	MYC	chr1:228674273-228675985	K562	blood:	n/a	chr1:228675761-228675771
3	POLR2A	chr1:228675579-228678949	K562	blood:	n/a	n/a
4	ZBTB7A	chr1:228675266-228675994	K562	blood:	n/a	n/a
5	POLR2A	chr1:228675691-228676901	U87	brain:	n/a	n/a
6	POLR2A	chr1:228675591-228676658	HCT-116	colon:	n/a	n/a
7	MAZ	chr1:228674322-228675843	Hela-S3	cervix:	n/a	chr1:228675761-228675771
8	UBTF	chr1:228674534-228676112	K562	blood:	n/a	n/a
9	POLR2A	chr1:228674145-228676899	K562	blood:	n/a	n/a
10	POLR2A	chr1:228675655-228675844	A549	lung:	n/a	n/a
11	POLR2A	chr1:228675812-228675823	Gliobla	brain:	n/a	n/a
12	MAX	chr1:228674235-228675954	HepG2	liver:	n/a	chr1:228675761-228675771
13	JUND	chr1:228675678-228675913	K562	blood:	n/a	n/a
14	POLR2A	chr1:228675668-228676339	U87	brain:	n/a	n/a
15	POLR2A	chr1:228674089-228676108	GM12892	blood:	n/a	n/a
16	MYC	chr1:228674297-228675857	NB4	blood:	n/a	chr1:228675761-228675771
17	POLR2A	chr1:228675570-228676460	HL-60	blood:	n/a	n/a
18	POLR2A	chr1:228675616-228676024	MCF-7	breast:	n/a	n/a
19	POLR2A	chr1:228674228-228676223	GM19193	blood:	n/a	n/a
20	POLR2A	chr1:228674162-228676850	GM12878	blood:	n/a	n/a
21	E2F6	chr1:228674230-228675912	K562	blood:	n/a	chr1:228674560-228674575 chr1:228675503-228675513 chr1:228674565-228674572 chr1:228674565-228674572 chr1:228675473-228675488 chr1:228675168-228675178 chr1:228675173-228675182 chr1:228674565-228674572 chr1:228674563-228674574 chr1:228674564-228674573 chr1:228674564-228674576
22	UBTF	chr1:228674206-228676142	K562	blood:	n/a	n/a
23	YY1	chr1:228674374-228675870	K562	blood:	n/a	chr1:228675632-228675641 chr1:228675144-228675155 chr1:228675199-228675213 chr1:228675171-228675185 chr1:228675168-228675182 chr1:228675220-228675234 chr1:228675632-228675643 chr1:228675490-228675504 chr1:228675173-228675182 chr1:228675395-228675409
24	POLR2A	chr1:228674182-228676219	GM18526	blood:	n/a	n/a
25	POLR2A	chr1:228674187-228676212	GM18505	blood:	n/a	n/a
26	POLR2A	chr1:228675529-228676740	HCT-116	colon:	n/a	n/a
27	POLR2A	chr1:228674181-228676169	A549	lung:	n/a	n/a
28	MYC	chr1:228674147-228676005	K562	blood:	n/a	chr1:228675761-228675771
29	MXI1	chr1:228673999-228676881	IMR90	lung:	n/a	n/a
30	POLR2A	chr1:228673803-228676876	HepG2	liver:	n/a	n/a
31	MAX	chr1:228674217-228675932	K562	blood:	n/a	chr1:228675761-228675771
32	POLR2A	chr1:228675567-228676947	U87	brain:	n/a	n/a
33	POLR2A	chr1:228675618-228675997	ProgFib	skin:	n/a	n/a
34	CTCF	chr1:228675776-228675823	GM19239	blood:	n/a	n/a
35	GABPA	chr1:228674234-228675929	K562	blood:	n/a	chr1:228675176-228675185
36	RCOR1	chr1:228674188-228676026	K562	blood:	n/a	n/a
37	CHD2	chr1:228675713-228676039	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:228675568-228676966	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr1:228675744-228675828	GM12878	blood:	n/a	n/a
40	YY1	chr1:228675659-228676033	GM12878	blood:	n/a	chr1:228675860-228675871
41	CTCF	chr1:228675720-228675870	GM12872	blood:	n/a	chr1:228675832-228675850 chr1:228675764-228675777 chr1:228675838-228675847
42	CTCF	chr1:228675745-228675884	GM12891	blood:	n/a	chr1:228675832-228675850 chr1:228675764-228675777 chr1:228675838-228675847
43	ZBTB7A	chr1:228675487-228675939	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr1:228675680-228676075	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:228675746-228675901	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:228674188-228676862	GM15510	blood:	n/a	n/a
47	CTCF	chr1:228675741-228675868	GM12892	blood:	n/a	chr1:228675832-228675850 chr1:228675764-228675777 chr1:228675838-228675847
48	POLR2A	chr1:228674216-228676749	K562	blood:	n/a	n/a
49	TEAD4	chr1:228675585-228676188	K562	blood:	n/a	n/a
50	CTCF	chr1:228675740-228675890	K562	blood:	n/a	chr1:228675832-228675850 chr1:228675764-228675777 chr1:228675838-228675847

No.	Distal block	Cell Line	Cell type
1	chr1:228290240..228293064-chr1:228675062..228676582,2	K562	blood:
2	chr1:228400032..228401961-chr1:228675104..228677391,2	MCF-7	breast:
3	chr1:228592366..228594573-chr1:228675027..228676697,3	MCF-7	breast:
4	chr1:11967567..11969704-chr1:228673208..228675906,2	MCF-7	breast:
5	chr1:228642342..228647806-chr1:228672380..228678428,13	MCF-7	breast:
6	chr1:228674158..228676652-chr1:228698714..228701340,3	K562	blood:
7	chr1:228675436..228678007-chr1:228697619..228700594,3	MCF-7	breast:
8	chr1:228671614..228676496-chr1:228676543..228681096,6	MCF-7	breast:
9	chr1:228672968..228678350-chr1:228679226..228685848,20	MCF-7	breast:
10	chr1:228487271..228488896-chr1:228674554..228676402,2	K562	blood:
11	chr1:228643230..228649256-chr1:228671672..228678578,15	MCF-7	breast:
12	chr1:24285294..24286180-chr1:228675458..228676219,2	HCT-116	colon:

Variant related genes	Relation type
RNF187	TF binding region
ENSG00000162913	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000188822	Chromatin interaction
ENSG00000189266	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000215811	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000143793	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
5	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
12	esv3417507	chr1:228673529-228677127	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv3338881	chr1:228674354-228676902	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv3408363	chr1:228674504-228676727	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr1:228673600-228676000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:228673600-228676000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:228673600-228676000	Active TSS	A549	lung
4	chr1:228673600-228676000	Active TSS	Hela-S3	cervix
5	chr1:228673600-228676200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:228673800-228676000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:228673800-228676000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:228673800-228676000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr1:228673800-228676000	Active TSS	Primary T cells from cord blood	blood
10	chr1:228673800-228676000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:228673800-228676000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr1:228673800-228676000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:228673800-228676000	Active TSS	Aorta	Aorta
14	chr1:228673800-228676000	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:228673800-228676000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:228673800-228676000	Active TSS	Colon Smooth Muscle	Colon
17	chr1:228673800-228676000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:228673800-228676000	Active TSS	Fetal Intestine Large	intestine
19	chr1:228673800-228676000	Active TSS	Psoas Muscle	Psoas
20	chr1:228673800-228676000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:228673800-228676000	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:228673800-228676000	Active TSS	NHEK	skin
23	chr1:228673800-228676200	Active TSS	Brain Angular Gyrus	brain
24	chr1:228673800-228676200	Active TSS	HSMM	muscle
25	chr1:228673800-228676200	Active TSS	NHLF	lung
26	chr1:228673800-228676600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:228673800-228676600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:228673800-228676800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:228674000-228676000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:228674000-228676000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:228674000-228676000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:228674000-228676000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:228674000-228676000	Active TSS	Brain Anterior Caudate	brain
34	chr1:228674000-228676000	Active TSS	Duodenum Mucosa	Duodenum
35	chr1:228674000-228676000	Active TSS	Esophagus	oesophagus
36	chr1:228674000-228676000	Active TSS	Fetal Brain Female	brain
37	chr1:228674000-228676000	Active TSS	Fetal Intestine Small	intestine
38	chr1:228674000-228676000	Active TSS	Ovary	ovary
39	chr1:228674000-228676000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr1:228674000-228676000	Active TSS	Right Ventricle	heart
41	chr1:228674000-228676000	Active TSS	HSMMtube	muscle
42	chr1:228674000-228676000	Active TSS	HUVEC	blood vessel
43	chr1:228674000-228676000	Active TSS	Osteobl	bone
44	chr1:228674000-228676200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:228674000-228676200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:228674000-228676200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:228674000-228676200	Active TSS	Fetal Kidney	kidney
48	chr1:228674000-228676400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:228674000-228676400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:228674000-228676600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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