Variant report

Variant	rs376973780
Chromosome Location	chr4:103788950-103788951
allele	-/AAC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr4:103788625-103789103	GM12878	blood:	n/a	n/a
2	IRF1	chr4:103788649-103789191	K562	blood:	n/a	n/a
3	MAX	chr4:103788872-103789071	NB4	blood:	n/a	n/a
4	ZNF143	chr4:103788848-103789076	GM12878	blood:	n/a	n/a
5	STAT3	chr4:103788604-103789019	GM12878	blood:	n/a	n/a
6	HEY1	chr4:103788720-103789098	K562	blood:	n/a	n/a
7	EP300	chr4:103788512-103789066	GM12878	blood:	n/a	n/a
8	RFX5	chr4:103788747-103789051	Hela-S3	cervix:	n/a	n/a
9	TBL1XR1	chr4:103788818-103789135	GM12878	blood:	n/a	n/a
10	CHD1	chr4:103788221-103789219	GM12878	blood:	n/a	n/a
11	PAX5	chr4:103788726-103789122	GM12878	blood:	n/a	n/a
12	TAF1	chr4:103788790-103789031	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr4:103788679-103789094	GM12878	blood:	n/a	n/a
14	ZNF384	chr4:103788902-103789375	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:103788726-103789041	K562	blood:	n/a	n/a
16	EP300	chr4:103788832-103788970	GM12878	blood:	n/a	n/a
17	MXI1	chr4:103788692-103789092	GM12878	blood:	n/a	n/a
18	YY1	chr4:103788756-103788969	K562	blood:	n/a	n/a
19	YY1	chr4:103788678-103789026	GM12878	blood:	n/a	n/a
20	RCOR1	chr4:103788462-103789136	K562	blood:	n/a	n/a
21	MYC	chr4:103788777-103789044	K562	blood:	n/a	n/a
22	POLR2A	chr4:103788623-103789098	PBDE	blood:	n/a	n/a
23	GTF3C2	chr4:103788826-103789593	Hela-S3	cervix:	n/a	n/a
24	MTA3	chr4:103788497-103789205	GM12878	blood:	n/a	n/a
25	UBTF	chr4:103788729-103789167	K562	blood:	n/a	n/a
26	MAX	chr4:103788731-103789000	K562	blood:	n/a	n/a
27	EP300	chr4:103788694-103789003	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:103788754-103789022	Hela-S3	cervix:	n/a	n/a
29	MAX	chr4:103788745-103789020	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr4:103788856-103789081	K562	blood:	n/a	n/a
31	POLR2A	chr4:103788807-103789018	Hela-S3	cervix:	n/a	n/a
32	NFIC	chr4:103788573-103789175	GM12878	blood:	n/a	n/a
33	RUNX3	chr4:103788601-103789153	GM12878	blood:	n/a	n/a
34	JUND	chr4:103788721-103789005	K562	blood:	n/a	n/a
35	POLR2A	chr4:103788745-103788985	GM12878	blood:	n/a	n/a
36	PAX5	chr4:103788812-103789044	GM12891	blood:	n/a	n/a
37	GTF3C2	chr4:103788865-103790492	K562	blood:	n/a	n/a
38	POLR2A	chr4:103788736-103789020	K562	blood:	n/a	n/a
39	ZNF143	chr4:103788801-103789080	K562	blood:	n/a	n/a
40	PAX5	chr4:103788718-103789060	GM12878	blood:	n/a	n/a
41	TAF1	chr4:103788727-103789024	K562	blood:	n/a	n/a
42	POLR2A	chr4:103788643-103789210	K562	blood:	n/a	n/a
43	POLR2A	chr4:103788683-103789032	K562	blood:	n/a	n/a
44	MYC	chr4:103788700-103789058	K562	blood:	n/a	n/a
45	RUNX3	chr4:103788557-103789215	GM12878	blood:	n/a	n/a
46	TBP	chr4:103788691-103789109	K562	blood:	n/a	n/a
47	BCLAF1	chr4:103788658-103789175	GM12878	blood:	n/a	n/a
48	TBL1XR1	chr4:103787704-103789083	K562	blood:	n/a	n/a
49	MYC	chr4:103788882-103788969	NB4	blood:	n/a	n/a
50	ZNF384	chr4:103788629-103789223	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103746553..103755574-chr4:103787108..103794302,29	MCF-7	breast:
2	chr4:103745482..103752084-chr4:103788371..103792114,20	MCF-7	breast:
3	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:
4	chr4:103782723..103785636-chr4:103787155..103789919,2	MCF-7	breast:
5	chr4:103757981..103760210-chr4:103788779..103792058,4	MCF-7	breast:
6	chr4:103420801..103422713-chr4:103788549..103790211,2	MCF-7	breast:
7	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
8	chr2:86849205..86851980-chr4:103788532..103791480,2	MCF-7	breast:
9	chr4:103421575..103424271-chr4:103788743..103790943,2	K562	blood:
10	chr4:103775426..103778667-chr4:103788378..103789993,3	MCF-7	breast:

No data

Variant related genes	Relation type
CISD2	TF binding region
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000246560	Chromatin interaction
ENSG00000260651	Chromatin interaction
ENSG00000109320	Chromatin interaction
ENSG00000252739	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
5	nsv879683	chr4:103785051-103916717	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv1849799	chr4:103787351-103881772	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103780200-103789200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:103781000-103789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:103781800-103789600	Weak transcription	Fetal Brain Male	brain
4	chr4:103782400-103789200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:103782400-103789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:103782600-103789000	Weak transcription	Fetal Stomach	stomach
7	chr4:103785200-103789000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:103785800-103789000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr4:103786800-103789000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr4:103787200-103789800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:103787400-103789000	Flanking Active TSS	Dnd41	blood
12	chr4:103787400-103789200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:103787600-103791000	Active TSS	K562	blood
14	chr4:103787600-103792600	Active TSS	GM12878-XiMat	blood
15	chr4:103788000-103789000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr4:103788000-103789200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:103788000-103791600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr4:103788200-103789000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr4:103788200-103789000	Weak transcription	Brain Angular Gyrus	brain
20	chr4:103788200-103789400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:103788400-103789000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:103788400-103789000	Flanking Active TSS	HepG2	liver
23	chr4:103788400-103789200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr4:103788400-103789200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:103788400-103789200	Enhancers	Brain Hippocampus Middle	brain
26	chr4:103788400-103789200	Enhancers	Fetal Lung	lung
27	chr4:103788400-103789400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:103788400-103789400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:103788400-103791800	Active TSS	Hela-S3	cervix
30	chr4:103788400-103792000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:103788600-103789000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:103788600-103789000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr4:103788600-103789000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr4:103788600-103789000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:103788600-103789000	Enhancers	Primary B cells from peripheral blood	blood
36	chr4:103788600-103789000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr4:103788600-103789000	Enhancers	Placenta	Placenta
38	chr4:103788600-103789200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:103788600-103789200	Flanking Active TSS	NHEK	skin
40	chr4:103788600-103789400	Enhancers	Fetal Heart	heart
41	chr4:103788600-103789600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr4:103788600-103789800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:103788600-103791000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:103788600-103791400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr4:103788600-103791600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:103788600-103791600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr4:103788600-103792000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:103788600-103792200	Active TSS	A549	lung
49	chr4:103788800-103789000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:103788800-103789000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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