Variant report

Variant	rs72896316
Chromosome Location	chr4:99240461-99240462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99235218..99237306-chr4:99238634..99241248,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs28651913	1.00[EUR][1000 genomes]
rs2866008	1.00[EUR][1000 genomes]
rs28683554	1.00[EUR][1000 genomes]
rs34392334	1.00[AMR][1000 genomes]
rs58408865	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58485619	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58977062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59516498	1.00[EUR][1000 genomes]
rs59929475	1.00[EUR][1000 genomes]
rs60266816	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60470511	1.00[EUR][1000 genomes]
rs61041466	1.00[EUR][1000 genomes]
rs72883608	1.00[EUR][1000 genomes]
rs72883610	1.00[EUR][1000 genomes]
rs72883612	1.00[EUR][1000 genomes]
rs72883618	1.00[EUR][1000 genomes]
rs72892327	1.00[EUR][1000 genomes]
rs72892332	1.00[EUR][1000 genomes]
rs72892346	1.00[EUR][1000 genomes]
rs72892347	1.00[EUR][1000 genomes]
rs72892354	1.00[EUR][1000 genomes]
rs72892355	1.00[EUR][1000 genomes]
rs72892359	1.00[EUR][1000 genomes]
rs72892365	1.00[EUR][1000 genomes]
rs72892368	1.00[EUR][1000 genomes]
rs72892376	1.00[EUR][1000 genomes]
rs72894293	1.00[EUR][1000 genomes]
rs72894299	1.00[EUR][1000 genomes]
rs72894392	1.00[EUR][1000 genomes]
rs72896117	1.00[EUR][1000 genomes]
rs72896309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896358	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896365	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896389	1.00[EUR][1000 genomes]
rs72896392	1.00[EUR][1000 genomes]
rs72898108	1.00[EUR][1000 genomes]
rs72898341	1.00[EUR][1000 genomes]
rs72898343	1.00[EUR][1000 genomes]
rs72898363	1.00[EUR][1000 genomes]
rs72898376	1.00[EUR][1000 genomes]
rs72898388	1.00[EUR][1000 genomes]
rs72898393	1.00[EUR][1000 genomes]
rs72900361	1.00[EUR][1000 genomes]
rs72900365	1.00[EUR][1000 genomes]
rs72900388	1.00[EUR][1000 genomes]
rs72900390	1.00[EUR][1000 genomes]
rs7676778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
3	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99184200-99242200	Weak transcription	A549	lung
2	chr4:99210200-99250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
4	chr4:99214200-99240800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
6	chr4:99219000-99252000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:99219600-99244600	Weak transcription	Fetal Thymus	thymus
8	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:99224400-99247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:99225200-99253400	Weak transcription	Fetal Lung	lung
11	chr4:99225400-99240600	Weak transcription	Primary B cells from cord blood	blood
12	chr4:99227000-99243000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:99229800-99241000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:99231200-99249000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:99232400-99247800	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:99233600-99243000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:99235000-99242400	Weak transcription	Pancreas	Pancrea
18	chr4:99236200-99241000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:99236600-99243200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:99236600-99264400	Weak transcription	Liver	Liver
21	chr4:99236800-99253400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:99237400-99257400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:99237400-99262000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:99237600-99241600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:99237600-99250000	Weak transcription	HSMM	muscle
26	chr4:99237800-99242200	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:99238000-99240600	Weak transcription	Fetal Stomach	stomach
28	chr4:99238000-99241000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:99238200-99241200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr4:99238200-99241600	ZNF genes & repeats	Dnd41	blood
31	chr4:99238400-99240800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr4:99238800-99241200	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr4:99239200-99241600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:99239600-99241600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:99239600-99241600	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr4:99239800-99241400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:99239800-99241600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:99239800-99241600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr4:99239800-99262000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:99240000-99240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:99240000-99240800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:99240000-99241000	Weak transcription	NHEK	skin
43	chr4:99240000-99252000	Weak transcription	Aorta	Aorta
44	chr4:99240400-99241400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:99240400-99241800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:99240400-99248200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:99240400-99248800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:99240400-99264200	Weak transcription	HMEC	breast

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