Variant report

Variant	rs4513548
Chromosome Location	chr4:152031007-152031008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152029263..152031262-chr4:152033582..152035466,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10032477	0.92[EUR][1000 genomes]
rs1046168	0.89[EUR][1000 genomes]
rs10964	0.85[EUR][1000 genomes]
rs11099783	0.86[EUR][1000 genomes]
rs11723219	0.85[EUR][1000 genomes]
rs11938266	0.86[EUR][1000 genomes]
rs12507657	0.88[EUR][1000 genomes]
rs13146584	0.86[EUR][1000 genomes]
rs2407440	0.85[EUR][1000 genomes]
rs2897660	0.88[EUR][1000 genomes]
rs4640649	0.87[EUR][1000 genomes]
rs4696226	0.89[EUR][1000 genomes]
rs4696227	0.89[EUR][1000 genomes]
rs4696229	0.86[EUR][1000 genomes]
rs4696661	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6535761	0.81[EUR][1000 genomes]
rs6535763	0.89[EUR][1000 genomes]
rs6535765	0.84[EUR][1000 genomes]
rs6819599	0.86[EUR][1000 genomes]
rs6825613	0.88[EUR][1000 genomes]
rs6825952	0.85[EUR][1000 genomes]
rs6826120	0.89[EUR][1000 genomes]
rs6826863	0.89[EUR][1000 genomes]
rs6829963	0.82[EUR][1000 genomes]
rs6844415	0.89[EUR][1000 genomes]
rs6847927	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6853215	0.92[EUR][1000 genomes]
rs6858377	0.89[EUR][1000 genomes]
rs7659146	0.86[EUR][1000 genomes]
rs7668154	0.85[EUR][1000 genomes]
rs7672381	0.88[EUR][1000 genomes]
rs7683092	0.85[EUR][1000 genomes]
rs7689095	0.85[EUR][1000 genomes]
rs7697992	0.86[EUR][1000 genomes]
rs9994205	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	35 gene(s)	inside rSNPs	diseases
22	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
24	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
26	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr4:152022800-152031800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:152022800-152031800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:152022800-152032000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:152022800-152034400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:152022800-152035800	Weak transcription	Right Atrium	heart
6	chr4:152022800-152069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:152023200-152034600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr4:152023200-152035000	Strong transcription	Fetal Thymus	thymus
9	chr4:152023200-152035600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:152023600-152031800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:152023800-152031600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:152023800-152031800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:152023800-152032000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:152023800-152034400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:152023800-152034600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:152023800-152035000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:152023800-152035000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:152023800-152041400	Strong transcription	Fetal Intestine Small	intestine
19	chr4:152024000-152031800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:152024400-152031800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:152024400-152037800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:152025000-152035200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:152025000-152073200	Weak transcription	Stomach Mucosa	stomach
24	chr4:152025200-152032000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:152025200-152038000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:152025200-152073600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:152025200-152085400	Weak transcription	Hela-S3	cervix
28	chr4:152025400-152031800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:152025400-152035000	Weak transcription	Fetal Brain Male	brain
30	chr4:152025600-152042600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:152026200-152042200	Weak transcription	NHDF-Ad	bronchial
32	chr4:152026400-152035600	Strong transcription	Fetal Stomach	stomach
33	chr4:152027000-152034600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:152027000-152038200	Weak transcription	HepG2	liver
35	chr4:152027000-152086600	Weak transcription	Fetal Kidney	kidney
36	chr4:152027200-152032800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:152027200-152034800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:152027200-152050400	Weak transcription	Aorta	Aorta
39	chr4:152027200-152095600	Weak transcription	Pancreas	Pancrea
40	chr4:152027800-152042600	Weak transcription	Colonic Mucosa	Colon
41	chr4:152027800-152047200	Weak transcription	HSMMtube	muscle
42	chr4:152027800-152050800	Weak transcription	Spleen	Spleen
43	chr4:152027800-152065000	Weak transcription	Gastric	stomach
44	chr4:152028000-152033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:152028000-152047200	Weak transcription	Esophagus	oesophagus
46	chr4:152028400-152033400	Weak transcription	Left Ventricle	heart
47	chr4:152028600-152034000	Weak transcription	Brain Substantia Nigra	brain
48	chr4:152028600-152035400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:152028600-152043600	Weak transcription	Small Intestine	intestine
50	chr4:152028600-152048600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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