Variant report

Variant	rs538431171
Chromosome Location	chr4:187475873-187475874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187393785..187394637-chr4:187475328..187475950,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1023052	chr4:187244679-187534428	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1016739	chr4:187249894-187534428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461866	chr4:187262489-187529904	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv596417	chr4:187262489-187529904	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022113	chr4:187268460-187534065	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1024953	chr4:187332658-187525542	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537435	chr4:187332658-187525542	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1016261	chr4:187332658-187564927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv537436	chr4:187332658-187564927	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv525719	chr4:187411297-187521037	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv1015619	chr4:187442453-187595058	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1023800	chr4:187444255-187593799	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	esv3373676	chr4:187475483-187478331	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187475000-187476200	Active TSS	Colonic Mucosa	Colon
2	chr4:187475000-187476800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr4:187475000-187476800	Active TSS	Rectal Smooth Muscle	rectum
4	chr4:187475000-187477000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr4:187475200-187476400	Bivalent Enhancer	Fetal Heart	heart
6	chr4:187475200-187476600	Bivalent/Poised TSS	Small Intestine	intestine
7	chr4:187475200-187477200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:187475400-187476000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:187475400-187477000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:187475600-187476000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:187475600-187476000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr4:187475600-187476000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr4:187475600-187476000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:187475600-187476000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:187475600-187476000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:187475600-187476000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
17	chr4:187475600-187476000	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr4:187475600-187476000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr4:187475600-187476000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr4:187475600-187476000	Active TSS	Pancreas	Pancrea
21	chr4:187475600-187476200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:187475600-187476200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
23	chr4:187475600-187476200	Flanking Bivalent TSS/Enh	NHEK	skin
24	chr4:187475600-187476400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:187475600-187476400	Bivalent/Poised TSS	Fetal Brain Male	brain
26	chr4:187475600-187476400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
27	chr4:187475600-187476400	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr4:187475600-187476400	Flanking Bivalent TSS/Enh	Osteobl	bone
29	chr4:187475600-187476600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
30	chr4:187475600-187476800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr4:187475600-187477000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr4:187475600-187477000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:187475800-187476000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:187475800-187476000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:187475800-187476000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr4:187475800-187476000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:187475800-187476000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:187475800-187476000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:187475800-187476000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:187475800-187476000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chr4:187475800-187476000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:187475800-187476000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr4:187475800-187476000	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr4:187475800-187476000	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr4:187475800-187476000	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr4:187475800-187476000	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
47	chr4:187475800-187476000	Flanking Bivalent TSS/Enh	K562	blood
48	chr4:187475800-187476000	Flanking Bivalent TSS/Enh	NH-A	brain
49	chr4:187475800-187476000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
50	chr4:187475800-187476200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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