Variant report

Variant	rs3733781
Chromosome Location	chr5:7868269-7868270
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	chr5:7868187-7870260	K562	blood:	n/a	n/a
2	IRF1	chr5:7867988-7869519	K562	blood:	n/a	chr5:7868801-7868815
3	MXI1	chr5:7867903-7870446	SK-N-SH	brain:	n/a	n/a
4	HCFC1	chr5:7868144-7871042	Hela-S3	cervix:	n/a	n/a
5	ZNF384	chr5:7868190-7868425	GM12878	blood:	n/a	n/a
6	MAX	chr5:7868188-7870214	NB4	blood:	n/a	chr5:7868883-7868890
7	MXI1	chr5:7868250-7870245	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:6632601..6634168-chr5:7866506..7869166,2	K562	blood:
2	chr5:7867721..7870602-chr5:7899852..7901700,2	MCF-7	breast:
3	chr5:7867651..7870301-chr5:7886397..7888680,2	MCF-7	breast:
4	chr5:7866975..7869850-chr5:7885041..7887303,3	K562	blood:
5	chr5:7867976..7870362-chr5:7899262..7901515,2	K562	blood:

Variant related genes	Relation type
MTRR	TF binding region
FASTKD3	TF binding region
ENSG00000124275	Chromatin interaction
ENSG00000145545	Chromatin interaction
ENSG00000037474	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16879236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879248	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822444	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822445	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73737646	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73737647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73737651	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:7852200-7868400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:7852200-7868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:7852200-7868400	Weak transcription	Gastric	stomach
5	chr5:7852200-7868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:7852800-7868400	Weak transcription	Pancreas	Pancrea
7	chr5:7854000-7868400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:7856000-7868400	Weak transcription	Stomach Mucosa	stomach
9	chr5:7858800-7868400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:7860400-7868400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:7862800-7868400	Weak transcription	Aorta	Aorta
12	chr5:7863000-7868400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:7863000-7868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:7863000-7868400	Weak transcription	Colonic Mucosa	Colon
15	chr5:7863000-7868400	Weak transcription	HSMMtube	muscle
16	chr5:7863200-7868400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:7865200-7868600	Weak transcription	Small Intestine	intestine
18	chr5:7865800-7868400	Enhancers	Fetal Intestine Small	intestine
19	chr5:7866000-7868400	Weak transcription	Placenta	Placenta
20	chr5:7866200-7868400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:7866200-7868400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:7866400-7868400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr5:7866600-7868400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:7867000-7868400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr5:7867000-7868400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:7867400-7868400	Enhancers	Left Ventricle	heart
27	chr5:7867600-7868400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:7867600-7868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:7867600-7868400	Enhancers	Ovary	ovary
30	chr5:7867600-7868400	Flanking Active TSS	Dnd41	blood
31	chr5:7867600-7868600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:7867600-7868800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr5:7867600-7868800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:7867800-7868400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:7867800-7868400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:7867800-7868400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:7867800-7868400	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:7867800-7868400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr5:7867800-7868400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:7867800-7868400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:7867800-7868400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:7867800-7868400	Enhancers	Fetal Lung	lung
43	chr5:7867800-7868400	Enhancers	Thymus	Thymus
44	chr5:7867800-7868400	Flanking Active TSS	NHEK	skin
45	chr5:7867800-7868600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:7867800-7868600	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr5:7867800-7868800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr5:7867800-7868800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr5:7867800-7868800	Flanking Active TSS	Hela-S3	cervix
50	chr5:7867800-7868800	Flanking Active TSS	HUVEC	blood vessel

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