Variant report

Variant	rs72896346
Chromosome Location	chr4:99258770-99258771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

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]
rs72896316	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]
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]
rs7691924	1.00[EUR][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
2	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
3	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:99236600-99264400	Weak transcription	Liver	Liver
5	chr4:99237400-99262000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:99239800-99262000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:99240400-99264200	Weak transcription	HMEC	breast
8	chr4:99241400-99267000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:99250200-99262200	Weak transcription	HSMM	muscle
10	chr4:99252000-99262400	Weak transcription	NH-A	brain
11	chr4:99252200-99261600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:99252200-99264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:99252400-99264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:99252400-99265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:99252400-99287400	Weak transcription	Aorta	Aorta
16	chr4:99254000-99260400	Weak transcription	Primary B cells from cord blood	blood
17	chr4:99254400-99286400	Weak transcription	Ovary	ovary
18	chr4:99255200-99264200	Weak transcription	Dnd41	blood
19	chr4:99255600-99264200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:99255600-99265000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:99255800-99264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:99255800-99273400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:99256200-99287200	Weak transcription	Right Ventricle	heart
24	chr4:99256400-99259000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:99256600-99259000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:99256600-99259400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:99256600-99259600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:99256600-99260200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:99256600-99261000	Weak transcription	Primary T cells from cord blood	blood
30	chr4:99256600-99262400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:99256600-99286000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:99256800-99259600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:99256800-99286400	Weak transcription	Fetal Intestine Small	intestine
34	chr4:99257200-99259400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:99257200-99259600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:99257200-99260000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:99257800-99263600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:99257800-99264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:99257800-99273200	Weak transcription	HUVEC	blood vessel
40	chr4:99258000-99264600	Weak transcription	NHLF	lung
41	chr4:99258000-99264800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:99258400-99274000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:99258600-99264200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:99258600-99264200	Weak transcription	Fetal Thymus	thymus

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