Variant report

Variant	rs4448203
Chromosome Location	chr7:97911883-97911884
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	chr7:97880609..97882891-chr7:97909884..97913133,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164713	Chromatin interaction
ENSG00000205356	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10226454	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10267597	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10277669	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10280254	0.89[EUR][1000 genomes]
rs12704987	0.97[EUR][1000 genomes]
rs13307956	0.96[EUR][1000 genomes]
rs13308560	0.96[EUR][1000 genomes]
rs1468339	0.97[EUR][1000 genomes]
rs1631779	0.96[EUR][1000 genomes]
rs1635611	0.97[EUR][1000 genomes]
rs1635613	0.87[EUR][1000 genomes]
rs1966359	0.96[EUR][1000 genomes]
rs1985594	1.00[EUR][1000 genomes]
rs2906183	0.99[EUR][1000 genomes]
rs34294017	0.99[EUR][1000 genomes]
rs35636211	0.96[EUR][1000 genomes]
rs35658212	0.97[EUR][1000 genomes]
rs4075058	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73391087	0.87[EUR][1000 genomes]
rs757669	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs757670	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7783403	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791314	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
13	esv1802449	chr7:97900191-97929668	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv3344573	chr7:97909166-97912264	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3441380	chr7:97909641-97912189	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3422518	chr7:97910041-97912589	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97909800-97912000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:97909800-97912000	Active TSS	Brain Germinal Matrix	brain
3	chr7:97909800-97912000	Active TSS	Colon Smooth Muscle	Colon
4	chr7:97909800-97914200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:97910000-97912000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:97910000-97912000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:97910000-97912200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:97910000-97912200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:97910000-97912400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:97910000-97912600	Active TSS	Ovary	ovary
11	chr7:97910000-97912800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:97910000-97913000	Active TSS	Right Atrium	heart
13	chr7:97910000-97913800	Active TSS	Aorta	Aorta
14	chr7:97910000-97914200	Active TSS	HSMMtube	muscle
15	chr7:97910200-97912000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:97910200-97912000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:97910200-97912200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:97910200-97912200	Active TSS	Esophagus	oesophagus
19	chr7:97910200-97912600	Active TSS	Pancreas	Pancrea
20	chr7:97910200-97913000	Active TSS	Gastric	stomach
21	chr7:97910400-97912000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:97910400-97912000	Active TSS	Left Ventricle	heart
23	chr7:97910400-97912000	Active TSS	Hela-S3	cervix
24	chr7:97910400-97912200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:97910400-97913000	Active TSS	HSMM	muscle
26	chr7:97910600-97912000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:97911200-97912000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr7:97911200-97912000	Active TSS	NHEK	skin
29	chr7:97911200-97912400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:97911200-97912600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr7:97911400-97912000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr7:97911400-97912000	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr7:97911400-97912000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr7:97911400-97912000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:97911400-97912000	Active TSS	Fetal Kidney	kidney
36	chr7:97911400-97912000	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr7:97911400-97912200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:97911400-97912200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:97911400-97912200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:97911400-97912200	Active TSS	Stomach Mucosa	stomach
41	chr7:97911400-97912200	Flanking Active TSS	Thymus	Thymus
42	chr7:97911400-97912400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:97911400-97912400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr7:97911400-97912400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:97911400-97912400	Flanking Active TSS	Fetal Thymus	thymus
46	chr7:97911400-97912600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr7:97911400-97912800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr7:97911400-97914400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:97911400-97914600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr7:97911400-97914600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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