Variant report

Variant	rs36005744
Chromosome Location	chr3:99569770-99569771
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	SPI1	chr3:99569439-99569800	HL-60	blood:	n/a	n/a
2	SPI1	chr3:99569334-99569901	HL-60	blood:	n/a	n/a
3	POLR2A	chr3:99569521-99569793	SK-N-SH	brain:	n/a	n/a
4	RUNX3	chr3:99569467-99569784	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:99569335-99569907	HL-60	blood:	n/a	n/a
6	POLR2A	chr3:99569436-99569864	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:99569399-99571159	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FILIP1L	TF binding region

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

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

rs_ID	r²[population]
rs15890	1.00[AMR][1000 genomes]
rs17313676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17314245	1.00[EUR][1000 genomes]
rs17314280	1.00[EUR][1000 genomes]
rs17314977	1.00[EUR][1000 genomes]
rs17338576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17392822	1.00[EUR][1000 genomes]
rs17393080	1.00[EUR][1000 genomes]
rs17397949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778707	1.00[AMR][1000 genomes]
rs17778804	1.00[AMR][1000 genomes]
rs17779605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6762809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6762871	1.00[EUR][1000 genomes]
rs6781780	1.00[EUR][1000 genomes]
rs6784150	1.00[EUR][1000 genomes]
rs6790187	1.00[EUR][1000 genomes]
rs6794130	1.00[EUR][1000 genomes]
rs6794365	1.00[EUR][1000 genomes]
rs6803576	1.00[AMR][1000 genomes]
rs6807615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7611313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7619738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7626310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7628458	1.00[EUR][1000 genomes]
rs7646221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648943	1.00[EUR][1000 genomes]
rs766777	1.00[EUR][1000 genomes]
rs9756455	1.00[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	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99537200-99594400	Weak transcription	Esophagus	oesophagus
2	chr3:99538200-99584600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99557000-99573600	Weak transcription	Small Intestine	intestine
4	chr3:99559000-99578000	Weak transcription	HMEC	breast
5	chr3:99562200-99573200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:99562200-99578000	Weak transcription	NHEK	skin
7	chr3:99562600-99578200	Weak transcription	Fetal Kidney	kidney
8	chr3:99562800-99569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:99562800-99580200	Weak transcription	Gastric	stomach
10	chr3:99563000-99575000	Weak transcription	Placenta	Placenta
11	chr3:99563000-99577600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:99563200-99572200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:99563200-99574800	Weak transcription	Psoas Muscle	Psoas
14	chr3:99563200-99593600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:99563800-99574800	Weak transcription	Pancreas	Pancrea
16	chr3:99564200-99577600	Weak transcription	Primary B cells from cord blood	blood
17	chr3:99565000-99572000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:99565200-99585000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:99565400-99577600	Weak transcription	Fetal Heart	heart
20	chr3:99565600-99573600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:99565600-99573600	Weak transcription	Fetal Lung	lung
22	chr3:99565600-99574800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:99565600-99574800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:99565600-99584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:99565600-99589400	Weak transcription	K562	blood
26	chr3:99566000-99571800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:99566000-99571800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:99566000-99572000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:99566000-99573200	Weak transcription	Liver	Liver
30	chr3:99566000-99578400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:99567000-99570000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:99567000-99570200	Strong transcription	HSMM	muscle
33	chr3:99567000-99570400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:99567000-99570800	Strong transcription	Fetal Intestine Large	intestine
35	chr3:99567000-99571600	Strong transcription	NH-A	brain
36	chr3:99567200-99569800	Strong transcription	HSMMtube	muscle
37	chr3:99567200-99570000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:99567200-99570000	Strong transcription	NHLF	lung
39	chr3:99567200-99570800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:99567200-99572000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:99567400-99570400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr3:99567600-99570000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:99567600-99573600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:99567600-99576200	Weak transcription	Stomach Mucosa	stomach
45	chr3:99567800-99570000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:99567800-99570400	Strong transcription	Left Ventricle	heart
47	chr3:99567800-99571800	Weak transcription	Right Atrium	heart
48	chr3:99567800-99572800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:99567800-99573400	Strong transcription	HepG2	liver
50	chr3:99567800-99581600	Weak transcription	Spleen	Spleen

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