Variant report

Variant	rs540077528
Chromosome Location	chr3:48958975-48958976
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	chr3:48958839-48959326	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:48958815-48959239	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48954426..48959569-chr3:49057203..49060067,5	K562	blood:
2	chr3:48752504..48754863-chr3:48957920..48960085,2	K562	blood:

Variant related genes	Relation type
ARIH2	TF binding region
ARIH2OS	TF binding region
ENSG00000178057	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000068745	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv980012	chr3:48935037-48963512	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv3394753	chr3:48956248-48960046	Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3340246	chr3:48956448-48960646	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	esv3461083	chr3:48956973-48960121	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv3346770	chr3:48957098-48959796	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	esv3461085	chr3:48957264-48959239	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	esv2473053	chr3:48957279-48959505	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	esv3461081	chr3:48957388-48959185	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
11	esv3461082	chr3:48957598-48959446	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
12	esv3461087	chr3:48957674-48959474	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48957200-48965000	Weak transcription	Small Intestine	intestine
2	chr3:48957400-48959000	Weak transcription	Spleen	Spleen
3	chr3:48957400-48961400	Weak transcription	Ovary	ovary
4	chr3:48957400-49003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:48957600-48959000	Weak transcription	Esophagus	oesophagus
6	chr3:48957600-48959000	Weak transcription	Gastric	stomach
7	chr3:48957600-48959800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:48957600-48961400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:48957600-48961400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:48957600-48964400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:48957600-48964400	Weak transcription	HSMMtube	muscle
12	chr3:48957600-48965000	Weak transcription	Fetal Kidney	kidney
13	chr3:48957600-48974400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:48957800-48959000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:48957800-48959000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:48957800-48959000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:48957800-48959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:48957800-48959000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:48957800-48959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:48957800-48959000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:48957800-48959000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:48957800-48959000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:48957800-48959000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:48957800-48959000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:48957800-48959000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:48957800-48959000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:48957800-48959000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:48957800-48959000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:48957800-48959000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:48957800-48959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:48957800-48959000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:48957800-48959000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:48957800-48959000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:48957800-48959000	Weak transcription	Brain Angular Gyrus	brain
35	chr3:48957800-48959000	Weak transcription	Brain Anterior Caudate	brain
36	chr3:48957800-48959000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:48957800-48959000	Weak transcription	Brain Germinal Matrix	brain
38	chr3:48957800-48959000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:48957800-48959000	Weak transcription	Fetal Brain Female	brain
40	chr3:48957800-48959000	Weak transcription	Fetal Heart	heart
41	chr3:48957800-48959000	Weak transcription	Fetal Intestine Large	intestine
42	chr3:48957800-48959000	Weak transcription	Fetal Stomach	stomach
43	chr3:48957800-48959000	Weak transcription	Left Ventricle	heart
44	chr3:48957800-48959000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:48957800-48959000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:48957800-48959000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:48957800-48959000	Weak transcription	Right Atrium	heart
48	chr3:48957800-48959000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:48957800-48959000	Weak transcription	Thymus	Thymus
50	chr3:48957800-48959000	Weak transcription	HepG2	liver

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