Variant report

Variant	rs73404797
Chromosome Location	chr15:42837614-42837615
allele	C/T
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	EGR1	chr15:42837528-42837798	K562	blood:	n/a	n/a
2	EGR1	chr15:42837473-42837777	K562	blood:	n/a	n/a
3	ZNF384	chr15:42837509-42837816	K562	blood:	n/a	n/a
4	TEAD4	chr15:42837065-42837742	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42837304..42838910-chr15:42839465..42842272,2	MCF-7	breast:

Variant related genes	Relation type
HAUS2	TF binding region
ENSG00000137814	Chromatin interaction
ENSG00000180979	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1044866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11541527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36090286	0.85[AFR][1000 genomes]
rs5009460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57249373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57349778	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58122107	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58562675	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58952814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59058205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59091063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60060355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60168929	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60697170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60839827	1.00[AMR][1000 genomes]
rs61368952	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61474811	0.85[AMR][1000 genomes]
rs6493048	0.92[AFR][1000 genomes]
rs6493049	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7166143	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7166633	0.87[AMR][1000 genomes]
rs7172064	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7172955	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7173155	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7175059	0.87[AMR][1000 genomes]
rs7178822	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7181938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402762	0.85[AMR][1000 genomes]
rs73402776	0.85[AMR][1000 genomes]
rs73402796	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404708	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404729	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404754	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404774	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406553	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406557	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs768118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8023948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8027207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8031383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8031883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033810	1.00[AMR][1000 genomes]
rs8034001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8035877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8036927	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8037277	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8040624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42797400-42839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:42797600-42839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:42799200-42839400	Weak transcription	Stomach Mucosa	stomach
4	chr15:42802400-42839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:42803600-42839400	Weak transcription	A549	lung
6	chr15:42806200-42839000	Weak transcription	Fetal Brain Male	brain
7	chr15:42808400-42839000	Weak transcription	Fetal Heart	heart
8	chr15:42810200-42840200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:42817400-42840200	Weak transcription	Pancreas	Pancrea
10	chr15:42821200-42839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:42822200-42840200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:42822800-42840000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:42823400-42840200	Weak transcription	Psoas Muscle	Psoas
14	chr15:42823800-42838000	Weak transcription	Brain Angular Gyrus	brain
15	chr15:42824000-42840200	Weak transcription	Small Intestine	intestine
16	chr15:42824400-42839400	Weak transcription	Brain Substantia Nigra	brain
17	chr15:42824600-42838400	Weak transcription	HepG2	liver
18	chr15:42824600-42839600	Weak transcription	Right Ventricle	heart
19	chr15:42831000-42837800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:42831200-42839000	Strong transcription	Fetal Lung	lung
21	chr15:42831400-42839200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:42831600-42839000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:42831600-42840200	Weak transcription	Gastric	stomach
24	chr15:42833400-42838000	Strong transcription	Primary T cells from cord blood	blood
25	chr15:42833400-42838200	Strong transcription	Placenta	Placenta
26	chr15:42833400-42838400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr15:42833600-42837800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr15:42834000-42838000	Strong transcription	Fetal Intestine Large	intestine
29	chr15:42834400-42837800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:42834400-42838000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:42834400-42838000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:42834400-42839200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:42834400-42839400	Strong transcription	Fetal Muscle Leg	muscle
34	chr15:42834600-42837800	Strong transcription	HUVEC	blood vessel
35	chr15:42834600-42838200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:42834600-42838400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:42834600-42838400	Strong transcription	Liver	Liver
38	chr15:42834800-42838200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr15:42834800-42838600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:42834800-42838800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr15:42835000-42838000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:42835000-42838000	Strong transcription	NHEK	skin
43	chr15:42835000-42838200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:42835000-42838400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:42835000-42839000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:42835000-42839200	Strong transcription	Fetal Thymus	thymus
47	chr15:42835600-42838000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:42835800-42838200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:42835800-42838200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:42835800-42838400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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