Variant report

Variant	rs72896392
Chromosome Location	chr4:99407493-99407494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr4:99407110-99407527	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99402389..99404917-chr4:99406688..99409637,2	K562	blood:

Variant related genes	Relation type
TSPAN5	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs58408865	1.00[EUR][1000 genomes]
rs58485619	1.00[EUR][1000 genomes]
rs58977062	1.00[EUR][1000 genomes]
rs59929475	1.00[EUR][1000 genomes]
rs60266816	1.00[EUR][1000 genomes]
rs60470511	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]
rs72896309	1.00[EUR][1000 genomes]
rs72896311	1.00[EUR][1000 genomes]
rs72896316	1.00[EUR][1000 genomes]
rs72896319	1.00[EUR][1000 genomes]
rs72896324	1.00[EUR][1000 genomes]
rs72896325	1.00[EUR][1000 genomes]
rs72896335	1.00[EUR][1000 genomes]
rs72896338	1.00[EUR][1000 genomes]
rs72896342	1.00[EUR][1000 genomes]
rs72896346	1.00[EUR][1000 genomes]
rs72896356	1.00[EUR][1000 genomes]
rs72896358	1.00[EUR][1000 genomes]
rs72896365	1.00[EUR][1000 genomes]
rs72896389	1.00[EUR][1000 genomes]
rs72898108	1.00[EUR][1000 genomes]
rs7691924	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99389200-99413000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:99389400-99419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr4:99390800-99413200	Weak transcription	Brain Anterior Caudate	brain
4	chr4:99392600-99408600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:99392600-99411800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:99394000-99413200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:99396200-99431400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:99396400-99412400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:99397600-99439400	Weak transcription	Primary B cells from cord blood	blood
10	chr4:99398000-99407600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:99399600-99407600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:99400000-99412600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:99400000-99429800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:99400200-99411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:99400400-99419200	Weak transcription	Fetal Thymus	thymus
16	chr4:99402400-99413000	Weak transcription	Brain Germinal Matrix	brain
17	chr4:99402600-99409200	Weak transcription	Lung	lung
18	chr4:99402600-99410600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:99402600-99413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:99402600-99413200	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:99402600-99413200	Weak transcription	Fetal Stomach	stomach
22	chr4:99402600-99422800	Weak transcription	Aorta	Aorta
23	chr4:99402600-99423600	Weak transcription	Primary T cells from cord blood	blood
24	chr4:99402600-99426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:99403000-99411000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:99403200-99411400	Weak transcription	Fetal Brain Male	brain
27	chr4:99404000-99413200	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:99404200-99411000	Weak transcription	Brain Substantia Nigra	brain
29	chr4:99404600-99413000	Weak transcription	Brain Angular Gyrus	brain
30	chr4:99404600-99413200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:99404800-99407800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:99404800-99408400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:99404800-99409200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:99404800-99409600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:99404800-99410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:99404800-99412400	Weak transcription	NHLF	lung
37	chr4:99404800-99412600	Weak transcription	Esophagus	oesophagus
38	chr4:99404800-99413200	Weak transcription	Ovary	ovary
39	chr4:99404800-99419200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:99404800-99419800	Weak transcription	Spleen	Spleen
41	chr4:99405200-99407600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:99405200-99407800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:99405200-99408000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:99405200-99412600	Weak transcription	HSMM	muscle
45	chr4:99405400-99412400	Weak transcription	NHDF-Ad	bronchial
46	chr4:99405600-99412400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:99405600-99431000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:99406000-99412200	Weak transcription	HMEC	breast
49	chr4:99406200-99407800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:99406200-99408000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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