Variant report

Variant	rs4073487
Chromosome Location	chr3:133972063-133972064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133961848..133963508-chr3:133970974..133972912,2	K562	blood:
2	chr3:133969851..133972992-chr3:133976680..133979913,3	K562	blood:
3	chr3:133971742..133973681-chr3:133989273..133991521,2	MCF-7	breast:
4	chr3:133970647..133972912-chr3:133975711..133978069,2	MCF-7	breast:
5	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:
6	chr3:133970115..133972265-chr3:133986843..133989271,2	MCF-7	breast:
7	chr3:133970945..133973560-chr3:133978440..133980451,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12185973	0.89[EUR][1000 genomes]
rs12186098	0.82[ASN][1000 genomes]
rs4072181	0.83[ASN][1000 genomes]
rs4072371	0.83[ASN][1000 genomes]
rs4076092	0.83[ASN][1000 genomes]

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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv1792549	chr3:133969361-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1798144	chr3:133969361-133973731	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	esv1838610	chr3:133969361-133973731	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	esv1842254	chr3:133969361-133973731	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133970000-133972400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:133970200-133972200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:133970200-133972200	Enhancers	Placenta	Placenta
4	chr3:133970200-133972400	Enhancers	Fetal Muscle Leg	muscle
5	chr3:133970200-133972400	Enhancers	Fetal Stomach	stomach
6	chr3:133970200-133972600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:133970200-133972800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:133970200-133972800	Weak transcription	HMEC	breast
9	chr3:133970200-133973200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:133970200-133977000	Weak transcription	Colonic Mucosa	Colon
11	chr3:133970200-133977600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:133970400-133972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:133970400-133972200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:133970400-133972200	Enhancers	Fetal Thymus	thymus
15	chr3:133970400-133972800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:133970400-133972800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:133970400-133973200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:133970400-133973800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:133970600-133972200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:133970600-133972800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:133970600-133972800	Enhancers	Fetal Heart	heart
22	chr3:133970600-133973200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:133970800-133972800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:133970800-133977600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:133971000-133972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:133971000-133973000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:133971000-133973000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:133971000-133973000	Weak transcription	Spleen	Spleen
29	chr3:133971000-133973200	Enhancers	Right Atrium	heart
30	chr3:133971000-133977800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:133971200-133972600	Weak transcription	HSMM	muscle
32	chr3:133971200-133974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr3:133971400-133972200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:133971400-133972600	Weak transcription	NHDF-Ad	bronchial
35	chr3:133971400-133972800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:133971400-133973200	Enhancers	Dnd41	blood
37	chr3:133971400-133977600	Weak transcription	Osteobl	bone
38	chr3:133971400-133977800	Weak transcription	NHLF	lung
39	chr3:133971400-133979800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:133971600-133972400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:133971600-133972600	Enhancers	Stomach Smooth Muscle	stomach
42	chr3:133971600-133973400	Enhancers	GM12878-XiMat	blood
43	chr3:133971600-133977800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:133971800-133972600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr3:133971800-133972800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:133971800-133973000	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:133971800-133973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:133972000-133972400	Enhancers	HepG2	liver
49	chr3:133972000-133973000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:133972000-133973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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