Variant report

Variant	rs530938252
Chromosome Location	chr3:46923156-46923157
allele	A/C
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	SIN3A	chr3:46923024-46923569	H1-hESC	embryonic stem cell:	n/a	chr3:46923038-46923051 chr3:46923040-46923051
2	CTBP2	chr3:46922694-46924513	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr3:46923151-46923686	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46917376..46920621-chr3:46922888..46926605,5	K562	blood:
2	chr3:46919067..46921668-chr3:46922191..46925334,3	K562	blood:
3	chr3:46917885..46923537-chr3:46925586..46931315,6	MCF-7	breast:
4	chr3:46921853..46924302-chr3:46929528..46931190,2	K562	blood:

Variant related genes	Relation type
PTH1R	TF binding region
ENSG00000268537	Chromatin interaction
ENSG00000160801	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv590205	chr3:46852679-46929546	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv590206	chr3:46873957-46935527	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	esv3438687	chr3:46922473-46925321	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3358362	chr3:46922648-46924896	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46920400-46923800	Weak transcription	Liver	Liver
2	chr3:46921000-46923200	Weak transcription	HSMM	muscle
3	chr3:46921000-46923200	Weak transcription	HSMMtube	muscle
4	chr3:46921200-46923200	Weak transcription	A549	lung
5	chr3:46922400-46923200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
6	chr3:46922400-46924000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:46922400-46925000	Active TSS	Fetal Kidney	kidney
8	chr3:46922400-46925400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
9	chr3:46922600-46923200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:46922600-46923200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr3:46922600-46923400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:46922600-46923400	Bivalent/Poised TSS	Fetal Lung	lung
13	chr3:46922600-46923600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
14	chr3:46922600-46924000	Active TSS	Left Ventricle	heart
15	chr3:46922600-46925000	Active TSS	Pancreas	Pancrea
16	chr3:46922600-46925200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr3:46922600-46925200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr3:46922600-46925400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:46922600-46925400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:46922600-46925400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:46922600-46925600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr3:46922600-46926000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:46922800-46923200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr3:46922800-46923200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:46922800-46923200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:46922800-46923200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:46922800-46923200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:46922800-46923200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr3:46922800-46923200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr3:46922800-46923200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:46922800-46923200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:46922800-46923200	Flanking Active TSS	Ovary	ovary
33	chr3:46922800-46923200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr3:46922800-46923400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr3:46922800-46923400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr3:46922800-46923600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr3:46922800-46923600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr3:46922800-46924000	Bivalent/Poised TSS	Colonic Mucosa	Colon
39	chr3:46922800-46924000	Active TSS	Right Ventricle	heart
40	chr3:46922800-46925000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:46922800-46925200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr3:46922800-46925200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr3:46922800-46925200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr3:46922800-46925200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr3:46922800-46925400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr3:46922800-46925600	Active TSS	Brain Cingulate Gyrus	brain
47	chr3:46923000-46923200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr3:46923000-46923200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:46923000-46923200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:46923000-46923200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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