Variant report

Variant	rs547101740
Chromosome Location	chr4:129733108-129733109
allele	-/GC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51421956..51422564-chr4:129732676..129733360,2	Hela-S3	cervix:
2	chr4:120987081..120989411-chr4:129732197..129734433,2	K562	blood:
3	chr4:100869660..100871292-chr4:129732222..129733752,2	K562	blood:
4	chr4:129375160..129378617-chr4:129730147..129733611,3	MCF-7	breast:
5	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
6	chr4:129471355..129474956-chr4:129730853..129734024,4	MCF-7	breast:
7	chr4:129208294..129210116-chr4:129731375..129734707,3	MCF-7	breast:
8	chr4:129732800..129733514-chr7:44835890..44836515,2	Hela-S3	cervix:
9	chr17:41465708..41466487-chr4:129732407..129733255,2	Hela-S3	cervix:
10	chr4:129730547..129732304-chr4:129732580..129735331,2	MCF-7	breast:
11	chr10:129923861..129924531-chr4:129733097..129733634,2	Hela-S3	cervix:
12	chr4:129521846..129523851-chr4:129730837..129734105,3	K562	blood:
13	chr4:129488526..129491708-chr4:129730813..129734421,3	K562	blood:
14	chr4:129206178..129209498-chr4:129731212..129733921,5	K562	blood:
15	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
16	chr4:129374742..129377081-chr4:129732245..129734297,2	K562	blood:
17	chr4:129732508..129734701-chr9:131037759..131039392,2	K562	blood:
18	chr3:73160089..73160613-chr4:129732630..129733505,2	Hela-S3	cervix:
19	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:
20	chr4:129732986..129733867-chr8:87354568..87355416,2	Hela-S3	cervix:
21	chr4:129489796..129491708-chr4:129731783..129734421,2	K562	blood:
22	chr4:129731357..129734214-chr4:129752200..129753715,2	K562	blood:
23	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
24	chr4:129376233..129378209-chr4:129732417..129734639,2	MCF-7	breast:
25	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164109	Chromatin interaction
ENSG00000151466	Chromatin interaction
ENSG00000248802	Chromatin interaction
ENSG00000123124	Chromatin interaction
ENSG00000250938	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000273077	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000148773	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000145050	Chromatin interaction
ENSG00000175854	Chromatin interaction
ENSG00000167110	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000248187	Chromatin interaction
ENSG00000251432	Chromatin interaction
ENSG00000196262	Chromatin interaction
ENSG00000223247	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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv822717	chr4:129724785-129739862	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a
5	esv3340336	chr4:129730252-129734500	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a
6	esv3321753	chr4:129731527-129734875	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129730000-129734000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr4:129730200-129734200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:129730200-129734200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:129730200-129734200	Active TSS	K562	blood
5	chr4:129730200-129734400	Active TSS	NHDF-Ad	bronchial
6	chr4:129730400-129733600	Active TSS	Primary T cells fromperipheralblood	blood
7	chr4:129730400-129733600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:129730400-129733600	Active TSS	Thymus	Thymus
9	chr4:129730400-129733800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:129730400-129733800	Active TSS	Primary T cells from cord blood	blood
11	chr4:129730400-129733800	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr4:129730400-129733800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:129730400-129733800	Active TSS	Brain Cingulate Gyrus	brain
14	chr4:129730400-129733800	Active TSS	Brain Hippocampus Middle	brain
15	chr4:129730400-129733800	Active TSS	Fetal Brain Female	brain
16	chr4:129730400-129733800	Active TSS	Fetal Kidney	kidney
17	chr4:129730400-129733800	Active TSS	Fetal Muscle Leg	muscle
18	chr4:129730400-129733800	Active TSS	Fetal Thymus	thymus
19	chr4:129730400-129733800	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr4:129730400-129733800	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:129730400-129733800	Active TSS	Osteobl	bone
22	chr4:129730400-129734000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:129730400-129734000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:129730400-129734000	Active TSS	Fetal Intestine Large	intestine
25	chr4:129730400-129734000	Active TSS	Pancreas	Pancrea
26	chr4:129730400-129734000	Active TSS	Rectal Smooth Muscle	rectum
27	chr4:129730400-129734000	Active TSS	NHEK	skin
28	chr4:129730400-129734200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:129730400-129734200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:129730400-129734200	Active TSS	Brain Angular Gyrus	brain
31	chr4:129730400-129734200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr4:129730400-129734200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:129730400-129734200	Active TSS	Brain Substantia Nigra	brain
34	chr4:129730400-129734200	Active TSS	Colon Smooth Muscle	Colon
35	chr4:129730400-129734200	Active TSS	Fetal Muscle Trunk	muscle
36	chr4:129730400-129734200	Active TSS	Left Ventricle	heart
37	chr4:129730400-129734200	Active TSS	Ovary	ovary
38	chr4:129730400-129734200	Active TSS	HSMM	muscle
39	chr4:129730400-129734200	Active TSS	HSMMtube	muscle
40	chr4:129730400-129734400	Active TSS	Brain Anterior Caudate	brain
41	chr4:129730400-129734400	Active TSS	Psoas Muscle	Psoas
42	chr4:129730400-129734400	Active TSS	GM12878-XiMat	blood
43	chr4:129730400-129734400	Active TSS	HMEC	breast
44	chr4:129730400-129734400	Active TSS	NH-A	brain
45	chr4:129730400-129734600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:129730400-129734600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:129730400-129734600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:129730400-129734600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr4:129730400-129734600	Active TSS	Brain Germinal Matrix	brain
50	chr4:129730400-129734600	Active TSS	Right Ventricle	heart

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