Variant report

Variant	rs546393403
Chromosome Location	chr5:43516651-43516652
allele	-/TTTTTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:
4	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
5	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
6	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
7	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
8	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
9	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
10	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
11	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
12	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:

No data

Variant related genes	Relation type
C5orf34	TF binding region
ENSG00000249492	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172244	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43515400-43523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43515400-43524000	Weak transcription	Spleen	Spleen
3	chr5:43515600-43523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43515600-43523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:43515600-43523800	Weak transcription	Gastric	stomach
6	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
7	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
8	chr5:43515800-43523400	Weak transcription	Lung	lung
9	chr5:43515800-43523800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:43515800-43523800	Weak transcription	Ovary	ovary
11	chr5:43515800-43525400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:43515800-43525600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:43516000-43519200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:43516000-43523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:43516000-43523200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:43516000-43523200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:43516000-43523200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:43516000-43523400	Weak transcription	Primary T cells from cord blood	blood
19	chr5:43516000-43523400	Weak transcription	Fetal Brain Female	brain
20	chr5:43516000-43523400	Weak transcription	Left Ventricle	heart
21	chr5:43516000-43523400	Weak transcription	Psoas Muscle	Psoas
22	chr5:43516000-43523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:43516000-43523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:43516000-43523800	Weak transcription	Brain Germinal Matrix	brain
25	chr5:43516000-43523800	Weak transcription	Right Ventricle	heart
26	chr5:43516000-43524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:43516000-43524000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:43516000-43524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:43516000-43524000	Weak transcription	Aorta	Aorta
30	chr5:43516000-43525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:43516000-43525200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:43516000-43525200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:43516000-43525200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:43516000-43525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:43516000-43525200	Weak transcription	Fetal Brain Male	brain
36	chr5:43516000-43525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:43516000-43525400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:43516000-43525400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:43516000-43525600	Weak transcription	NHDF-Ad	bronchial
40	chr5:43516000-43527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:43516000-43528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:43516000-43528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:43516000-43529400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:43516200-43523200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:43516200-43523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:43516200-43523200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:43516200-43523200	Weak transcription	Primary B cells from cord blood	blood
50	chr5:43516200-43523200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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