Variant report

Variant	rs567543358
Chromosome Location	chr15:31617526-31617527
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	EBF1	chr15:31617041-31617669	GM12878	blood:	n/a	chr15:31617431-31617442
2	POLR2A	chr15:31615713-31621677	GM12878	blood:	n/a	n/a
3	NFIC	chr15:31617218-31618017	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:31617468-31617887	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr15:31617363-31617551	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr15:31617143-31619697	MCF10A-Er-Src	breast:	n/a	n/a
7	BCL11A	chr15:31617365-31617554	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:31617319-31617617	GM12878	blood:	n/a	n/a
9	RCOR1	chr15:31617012-31617841	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:31616968-31619705	GM12878	blood:	n/a	n/a
11	EBF1	chr15:31616991-31619070	GM12878	blood:	n/a	chr15:31617431-31617442
12	POLR2A	chr15:31616803-31619635	GM12878	blood:	n/a	n/a
13	GATA1	chr15:31616632-31617850	PBDE	blood:	n/a	n/a
14	CTCF	chr15:31617460-31617795	K562	blood:	n/a	n/a
15	POLR2A	chr15:31615786-31621591	GM18505	blood:	n/a	n/a
16	RUNX3	chr15:31616832-31619279	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:31616987-31617664	Hela-S3	cervix:	n/a	n/a
18	RELA	chr15:31617506-31619220	GM12892	blood:	n/a	n/a
19	TAF1	chr15:31617248-31618057	GM12878	blood:	n/a	n/a
20	PAX5	chr15:31617212-31619687	GM12878	blood:	n/a	chr15:31618840-31618858 chr15:31619185-31619194 chr15:31618675-31618692 chr15:31618277-31618286 chr15:31618838-31618857
21	CHD2	chr15:31617045-31619545	GM12878	blood:	n/a	n/a
22	PML	chr15:31616478-31619409	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:31615720-31621512	GM19099	blood:	n/a	n/a
24	MTA3	chr15:31615733-31619375	GM12878	blood:	n/a	n/a
25	BCLAF1	chr15:31616995-31617967	GM12878	blood:	n/a	chr15:31617883-31617896 chr15:31617885-31617898 chr15:31617222-31617229
26	POU2F2	chr15:31616964-31619626	GM12878	blood:	n/a	chr15:31618706-31618718 chr15:31618424-31618436 chr15:31618905-31618917
27	POLR2A	chr15:31617377-31620903	NB4	blood:	n/a	n/a
28	RUNX3	chr15:31616980-31619274	GM12878	blood:	n/a	n/a
29	BCL11A	chr15:31617324-31617690	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:31616945-31621631	GM12892	blood:	n/a	n/a
31	MAX	chr15:31617030-31619594	GM12878	blood:	n/a	chr15:31617270-31617281 chr15:31618906-31618916 chr15:31617669-31617679
32	MTA3	chr15:31616504-31617892	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:31616576-31621321	IMR90	lung:	n/a	n/a
34	REST	chr15:31617454-31619840	H1-neurons	neurons:	n/a	chr15:31618352-31618365 chr15:31618053-31618066 chr15:31619063-31619076 chr15:31619389-31619402 chr15:31618283-31618293 chr15:31618285-31618298 chr15:31618925-31618935 chr15:31617669-31617682 chr15:31619060-31619069 chr15:31618325-31618335
35	STAT5A	chr15:31616959-31618866	GM12878	blood:	n/a	chr15:31616966-31616989
36	SMARCB1	chr15:31617394-31620968	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr15:31616797-31621607	Hela-S3	cervix:	n/a	n/a
38	SIN3A	chr15:31617124-31618813	GM12878	blood:	n/a	chr15:31618352-31618365 chr15:31617958-31617969 chr15:31618424-31618435
39	YY1	chr15:31617324-31619668	GM12892	blood:	n/a	chr15:31619220-31619234 chr15:31618662-31618671 chr15:31617884-31617898 chr15:31618934-31618948 chr15:31617965-31617976 chr15:31618931-31618945 chr15:31619394-31619408 chr15:31618905-31618914 chr15:31618659-31618668 chr15:31618939-31618948 chr15:31618148-31618162 chr15:31618427-31618441 chr15:31619217-31619231 chr15:31618930-31618941
40	PML	chr15:31617303-31617630	GM12878	blood:	n/a	n/a
41	WRNIP1	chr15:31615800-31617683	GM12878	blood:	n/a	n/a
42	SIN3A	chr15:31617500-31621899	H1-hESC	embryonic stem cell:	n/a	chr15:31618918-31618931 chr15:31618352-31618365 chr15:31621042-31621051 chr15:31620831-31620840 chr15:31617958-31617969 chr15:31620615-31620628 chr15:31618424-31618435 chr15:31618930-31618941 chr15:31619060-31619073 chr15:31620144-31620157
43	TBL1XR1	chr15:31617071-31619138	GM12878	blood:	n/a	n/a
44	POLR2A	chr15:31617222-31617892	GM12891	blood:	n/a	n/a
45	YY1	chr15:31617307-31619654	GM12878	blood:	n/a	chr15:31619220-31619234 chr15:31618662-31618671 chr15:31617884-31617898 chr15:31618934-31618948 chr15:31617965-31617976 chr15:31618931-31618945 chr15:31619394-31619408 chr15:31618905-31618914 chr15:31618659-31618668 chr15:31618939-31618948 chr15:31618148-31618162 chr15:31618427-31618441 chr15:31619217-31619231 chr15:31618930-31618941
46	NFATC1	chr15:31617217-31617999	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:31617350-31619656	HL-60	blood:	n/a	n/a
48	BCLAF1	chr15:31616819-31619281	GM12878	blood:	n/a	chr15:31617883-31617896 chr15:31618938-31618947 chr15:31617885-31617898 chr15:31618149-31618162 chr15:31618933-31618946 chr15:31618360-31618373 chr15:31619243-31619256 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618932-31618945 chr15:31618212-31618225 chr15:31618935-31618948 chr15:31617222-31617229 chr15:31618612-31618625
49	CHD1	chr15:31617210-31621792	IMR90	lung:	n/a	chr15:31620036-31620046 chr15:31620162-31620172 chr15:31620076-31620086 chr15:31620113-31620123
50	YY1	chr15:31617322-31619588	GM12878	blood:	n/a	chr15:31619220-31619234 chr15:31618662-31618671 chr15:31617884-31617898 chr15:31618934-31618948 chr15:31617965-31617976 chr15:31618931-31618945 chr15:31619394-31619408 chr15:31618905-31618914 chr15:31618659-31618668 chr15:31618939-31618948 chr15:31618148-31618162 chr15:31618427-31618441 chr15:31619217-31619231 chr15:31618930-31618941

No.	Distal block	Cell Line	Cell type
1	chr15:31615054..31617899-chr15:31634755..31636481,2	MCF-7	breast:
2	chr15:31616992..31619470-chr15:31682984..31685911,2	K562	blood:
3	chr15:31616920..31619586-chr8:103667733..103670691,2	MCF-7	breast:

Variant related genes	Relation type
KLF13	TF binding region
ENSG00000155090	Chromatin interaction
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv456747	chr15:31537496-31637996	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv568772	chr15:31537496-31637996	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv1839818	chr15:31594828-31637996	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
12	nsv542318	chr15:31601016-31628938	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv1050482	chr15:31601016-31672921	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv542319	chr15:31605961-31628938	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1048082	chr15:31610245-31667000	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1045944	chr15:31610245-31672921	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
17	nsv568773	chr15:31616674-31619868	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	esv1814726	chr15:31616674-31620435	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv568774	chr15:31616674-31620943	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv516681	chr15:31616674-31675453	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS 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	13 gene(s)	inside rSNPs	diseases
21	nsv903841	chr15:31616674-31697242	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
22	esv3322979	chr15:31617060-31621658	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	esv3440911	chr15:31617485-31620033	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31615800-31617800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:31616000-31617800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr15:31616000-31617800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:31616000-31618000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr15:31616200-31617800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr15:31616400-31617600	Flanking Active TSS	Thymus	Thymus
7	chr15:31616800-31617800	Flanking Active TSS	Fetal Thymus	thymus
8	chr15:31616800-31617800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:31616800-31618400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr15:31617000-31617600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:31617000-31617600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:31617000-31617600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:31617000-31617600	Enhancers	Placenta	Placenta
14	chr15:31617000-31617600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr15:31617000-31617800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:31617000-31617800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr15:31617000-31617800	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr15:31617000-31617800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:31617000-31617800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr15:31617000-31617800	Flanking Active TSS	Fetal Heart	heart
21	chr15:31617000-31617800	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr15:31617000-31617800	Flanking Active TSS	Hela-S3	cervix
23	chr15:31617000-31618000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr15:31617000-31618000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr15:31617000-31618000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:31617000-31618000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr15:31617200-31617600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
28	chr15:31617200-31617600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr15:31617200-31617600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr15:31617200-31617600	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr15:31617200-31617600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr15:31617200-31617600	Flanking Active TSS	Lung	lung
33	chr15:31617200-31617600	Flanking Active TSS	Psoas Muscle	Psoas
34	chr15:31617200-31617600	Flanking Active TSS	Right Ventricle	heart
35	chr15:31617200-31617600	Flanking Active TSS	A549	lung
36	chr15:31617200-31617600	Bivalent Enhancer	K562	blood
37	chr15:31617200-31617800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:31617200-31617800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr15:31617200-31617800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:31617200-31617800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr15:31617200-31617800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:31617200-31617800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr15:31617200-31617800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:31617200-31617800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr15:31617200-31617800	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr15:31617200-31617800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr15:31617200-31617800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr15:31617200-31617800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr15:31617200-31617800	Flanking Active TSS	Fetal Kidney	kidney
50	chr15:31617200-31617800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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