Variant report

Variant	rs561856370
Chromosome Location	chr14:71373773-71373774
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	EGR1	chr14:71373717-71375434	HCT-116	colon:	n/a	chr14:71374724-71374737 chr14:71375147-71375156 chr14:71374724-71374737 chr14:71374727-71374737 chr14:71374938-71374952 chr14:71375146-71375156 chr14:71374133-71374143 chr14:71375146-71375159 chr14:71375146-71375159 chr14:71374723-71374738 chr14:71375146-71375159 chr14:71374724-71374737 chr14:71374850-71374863 chr14:71375141-71375163 chr14:71375228-71375238 chr14:71374850-71374860 chr14:71375257-71375279
2	RAD21	chr14:71373769-71374375	A549	lung:	n/a	chr14:71374291-71374303 chr14:71374290-71374299 chr14:71374101-71374111 chr14:71374101-71374113
3	CEBPB	chr14:71373557-71374209	MCF-7	breast:	n/a	chr14:71373719-71373732
4	CTCF	chr14:71373630-71374358	MCF-7	breast:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
5	MAX	chr14:71373727-71375644	MCF-7	breast:	n/a	chr14:71375428-71375438 chr14:71374850-71374860 chr14:71375191-71375201 chr14:71375384-71375393 chr14:71374727-71374737
6	MXI1	chr14:71373065-71376033	IMR90	lung:	n/a	n/a
7	POLR2A	chr14:71373656-71373980	HepG2	liver:	n/a	n/a
8	FOXM1	chr14:71373597-71374219	GM12878	blood:	n/a	n/a
9	RELA	chr14:71373597-71374991	GM19099	blood:	n/a	chr14:71374884-71374893 chr14:71374884-71374893
10	POLR2A	chr14:71373670-71375721	GM12892	blood:	n/a	n/a
11	ZNF263	chr14:71373684-71377913	HEK293-T-REx	kidney:	n/a	chr14:71376924-71376945
12	EP300	chr14:71373663-71374303	HepG2	liver:	n/a	chr14:71374095-71374111
13	BCLAF1	chr14:71373665-71374534	GM12878	blood:	n/a	chr14:71374105-71374114
14	CTCF	chr14:71373678-71374438	GM12878	blood:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
15	CEBPB	chr14:71373580-71373884	HepG2	liver:	n/a	chr14:71373719-71373732
16	MXI1	chr14:71373741-71375614	GM12878	blood:	n/a	n/a
17	MAX	chr14:71373768-71375739	A549	lung:	n/a	chr14:71375428-71375438 chr14:71374850-71374860 chr14:71375191-71375201 chr14:71375384-71375393 chr14:71374727-71374737
18	WRNIP1	chr14:71373597-71373884	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:71373689-71375695	GM12878	blood:	n/a	n/a
20	SIN3A	chr14:71373759-71375833	H1-hESC	embryonic stem cell:	n/a	chr14:71375070-71375081 chr14:71374414-71374423
21	POLR2A	chr14:71373654-71374131	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:71373773-71375531	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr14:71372584-71375989	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr14:71373771-71375698	Hela-S3	cervix:	n/a	n/a
25	ZMIZ1	chr14:71373674-71374082	K562	blood:	n/a	n/a
26	CTCF	chr14:71373720-71373870	NHDF-neo	bronchial:	n/a	n/a
27	MYC	chr14:71373662-71374409	NB4	blood:	n/a	n/a
28	MYBL2	chr14:71373763-71374274	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:71373692-71374989	NB4	blood:	n/a	n/a
30	CTCF	chr14:71373752-71374417	HCT-116	colon:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
31	CTCF	chr14:71373755-71374342	IMR90	lung:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
32	YY1	chr14:71373534-71375532	GM12878	blood:	n/a	chr14:71373536-71373558 chr14:71375145-71375159 chr14:71375190-71375199 chr14:71375148-71375159 chr14:71373996-71374010 chr14:71374729-71374738 chr14:71374292-71374302 chr14:71374280-71374302 chr14:71374849-71374858 chr14:71373548-71373558 chr14:71374815-71374829 chr14:71374285-71374304 chr14:71373992-71374003 chr14:71374291-71374299 chr14:71375148-71375157 chr14:71375149-71375163 chr14:71375154-71375163 chr14:71374293-71374301
33	CTCF	chr14:71373613-71375536	SK-N-SH	brain:	n/a	chr14:71374815-71374828 chr14:71374100-71374110 chr14:71375287-71375296 chr14:71374130-71374143 chr14:71374504-71374517
34	POLR2A	chr14:71373772-71375758	Hela-S3	cervix:	n/a	n/a
35	MYBL2	chr14:71373690-71374275	HepG2	liver:	n/a	n/a
36	MAZ	chr14:71373733-71375575	GM12878	blood:	n/a	chr14:71375428-71375438 chr14:71374850-71374860 chr14:71375191-71375201 chr14:71375384-71375393 chr14:71374727-71374737
37	EGR1	chr14:71373555-71374246	MCF-7	breast:	n/a	chr14:71374133-71374143
38	NRF1	chr14:71373694-71374191	GM12878	blood:	n/a	chr14:71374136-71374145
39	CTCF	chr14:71373264-71374563	A549	lung:	n/a	chr14:71374100-71374110 chr14:71374130-71374143 chr14:71374504-71374517
40	POLR2A	chr14:71373767-71374512	HCT-116	colon:	n/a	n/a
41	PML	chr14:71373398-71375194	GM12878	blood:	n/a	n/a
42	STAT1	chr14:71373738-71374808	GM12878	blood:	n/a	chr14:71374182-71374194
43	CTCF	chr14:71373740-71373890	K562	blood:	n/a	n/a
44	CTCF	chr14:71373729-71373775	HUVEC	blood vessel:	n/a	n/a
45	YY1	chr14:71373754-71375435	GM12892	blood:	n/a	chr14:71375145-71375159 chr14:71375190-71375199 chr14:71375148-71375159 chr14:71373996-71374010 chr14:71374729-71374738 chr14:71374292-71374302 chr14:71374280-71374302 chr14:71374849-71374858 chr14:71374815-71374829 chr14:71374285-71374304 chr14:71373992-71374003 chr14:71374291-71374299 chr14:71375148-71375157 chr14:71375149-71375163 chr14:71375154-71375163 chr14:71374293-71374301
46	MAZ	chr14:71373728-71374962	K562	blood:	n/a	chr14:71374850-71374860 chr14:71374727-71374737
47	RELA	chr14:71373759-71375001	GM18951	blood:	n/a	chr14:71374884-71374893 chr14:71374884-71374893
48	POLR2A	chr14:71373765-71375481	Raji	blood:	n/a	n/a
49	REST	chr14:71373642-71375736	H1-neurons	neurons:	n/a	chr14:71375392-71375412 chr14:71374412-71374432 chr14:71373997-71374007 chr14:71374412-71374426 chr14:71375174-71375187 chr14:71374416-71374429 chr14:71375395-71375408 chr14:71375392-71375412 chr14:71374733-71374743
50	MAZ	chr14:71373629-71375737	IMR90	lung:	n/a	chr14:71375428-71375438 chr14:71374850-71374860 chr14:71375191-71375201 chr14:71375384-71375393 chr14:71374727-71374737

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71373548..71375387-chr14:71412068..71413840,2	MCF-7	breast:

Variant related genes	Relation type
PCNX	TF binding region
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3323142	chr14:71373224-71375772	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3382652	chr14:71373549-71376347	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr14:71364000-71373800	Weak transcription	Small Intestine	intestine
2	chr14:71371200-71374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:71371600-71373800	Flanking Active TSS	HSMMtube	muscle
4	chr14:71372800-71374000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr14:71373000-71373800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr14:71373000-71374000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:71373000-71374000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr14:71373000-71374000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:71373000-71374000	Enhancers	Stomach Mucosa	stomach
10	chr14:71373000-71374800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:71373200-71373800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr14:71373200-71373800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:71373200-71373800	Flanking Active TSS	Fetal Kidney	kidney
14	chr14:71373200-71373800	Weak transcription	Spleen	Spleen
15	chr14:71373200-71373800	Flanking Active TSS	Osteobl	bone
16	chr14:71373200-71374000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:71373200-71374000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr14:71373200-71374000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr14:71373200-71374000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:71373200-71374200	Active TSS	Right Atrium	heart
21	chr14:71373200-71374400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:71373200-71374800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:71373200-71376200	Active TSS	NHDF-Ad	bronchial
24	chr14:71373200-71376400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:71373400-71373800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:71373400-71373800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:71373400-71373800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:71373400-71373800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr14:71373400-71373800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:71373400-71373800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr14:71373400-71373800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr14:71373400-71373800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:71373400-71373800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr14:71373400-71373800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr14:71373400-71373800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr14:71373400-71373800	Flanking Active TSS	Fetal Brain Female	brain
37	chr14:71373400-71373800	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr14:71373400-71373800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr14:71373400-71373800	Flanking Active TSS	Thymus	Thymus
40	chr14:71373400-71373800	Flanking Active TSS	NHLF	lung
41	chr14:71373400-71374000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr14:71373400-71374000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr14:71373400-71374000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr14:71373400-71374000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr14:71373400-71374000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:71373400-71374000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:71373400-71374000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:71373400-71374000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr14:71373400-71374000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr14:71373400-71374000	Flanking Active TSS	Fetal Muscle Leg	muscle

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