Variant report

Variant	rs58206781
Chromosome Location	chr3:136350265-136350266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:136349715-136350621	K562	blood:	n/a	n/a
2	CUX1	chr3:136350231-136350587	K562	blood:	n/a	n/a
3	MAX	chr3:136350237-136350627	K562	blood:	n/a	n/a
4	RCOR1	chr3:136350117-136350475	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:136347991..136350504-chr3:136357801..136360189,2	K562	blood:
2	chr3:136343802..136345688-chr3:136349798..136351830,2	MCF-7	breast:
3	chr3:136347675..136350642-chr3:136351726..136354296,2	K562	blood:
4	chr3:136350170..136353597-chr3:136468835..136472616,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-198P	TF binding region
ENSG00000261758	Chromatin interaction
ENSG00000251708	Chromatin interaction
ENSG00000118007	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55674785	1.00[EUR][1000 genomes]
rs56043110	1.00[EUR][1000 genomes]
rs56183552	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56381882	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58021491	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58493992	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58544452	1.00[EUR][1000 genomes]
rs59554065	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59778182	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60073313	1.00[EUR][1000 genomes]
rs60778309	1.00[EUR][1000 genomes]
rs61400878	1.00[EUR][1000 genomes]
rs6439666	1.00[EUR][1000 genomes]
rs6773054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72985268	1.00[EUR][1000 genomes]
rs73863618	1.00[EUR][1000 genomes]
rs73863622	1.00[EUR][1000 genomes]
rs73863623	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73863625	1.00[EUR][1000 genomes]
rs73863630	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73863634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73863640	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73863911	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73863952	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7635059	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7640942	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642679	1.00[EUR][1000 genomes]
rs7646127	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652657	1.00[EUR][1000 genomes]
rs9942116	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136268200-136351200	Weak transcription	Esophagus	oesophagus
2	chr3:136290000-136351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:136297200-136351200	Weak transcription	Pancreas	Pancrea
4	chr3:136298600-136351600	Weak transcription	HSMM	muscle
5	chr3:136300200-136351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:136308000-136357400	Weak transcription	Lung	lung
7	chr3:136315400-136356400	Weak transcription	Brain Anterior Caudate	brain
8	chr3:136315800-136355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:136315800-136361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:136316000-136364400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:136320800-136356800	Weak transcription	Ovary	ovary
12	chr3:136322200-136355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:136323400-136362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:136324200-136363600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:136327400-136357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:136328000-136351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:136335600-136350600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:136335600-136357400	Weak transcription	Psoas Muscle	Psoas
19	chr3:136336200-136364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:136336400-136351400	Weak transcription	Right Ventricle	heart
21	chr3:136338800-136355600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:136342200-136355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:136343600-136351600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:136344400-136351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:136344600-136350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:136344600-136351200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:136344600-136351200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:136344600-136355600	Weak transcription	Fetal Kidney	kidney
29	chr3:136345200-136352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:136345800-136364000	Weak transcription	Small Intestine	intestine
31	chr3:136346000-136351200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:136346000-136351400	Weak transcription	Stomach Mucosa	stomach
33	chr3:136346000-136351800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:136346200-136351400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:136346400-136350600	Strong transcription	Primary T cells from cord blood	blood
36	chr3:136346600-136351200	Weak transcription	Fetal Heart	heart
37	chr3:136347000-136361200	Weak transcription	Left Ventricle	heart
38	chr3:136347200-136351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:136347200-136351200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:136347200-136368400	Weak transcription	Fetal Intestine Small	intestine
41	chr3:136347400-136350400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr3:136347400-136351000	Weak transcription	Fetal Intestine Large	intestine
43	chr3:136347400-136351200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:136347400-136351600	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:136347400-136351800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:136347400-136358400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:136347400-136364000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:136347600-136353400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:136347600-136367200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:136348000-136350800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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