Variant report

Variant	rs531788492
Chromosome Location	chr2:209158641-209158642
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	NRF1	chr2:209158548-209158748	GM12878	blood:	n/a	n/a
2	FOXA1	chr2:209158569-209159318	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PIKFYVE	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3374177	chr2:209158283-209158718	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
4	chr2:209139200-209159400	Weak transcription	Small Intestine	intestine
5	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
6	chr2:209139800-209161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
9	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
10	chr2:209147800-209168200	Weak transcription	Gastric	stomach
11	chr2:209148600-209163400	Weak transcription	Lung	lung
12	chr2:209148600-209167600	Weak transcription	Esophagus	oesophagus
13	chr2:209148600-209169600	Weak transcription	Spleen	Spleen
14	chr2:209149600-209179800	Strong transcription	Dnd41	blood
15	chr2:209150000-209160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:209150000-209160800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:209150400-209160800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:209150800-209159400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:209151000-209159000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:209152600-209163400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:209152600-209163400	Weak transcription	Fetal Intestine Small	intestine
22	chr2:209152600-209163400	Weak transcription	NHEK	skin
23	chr2:209152800-209161800	Strong transcription	HSMM	muscle
24	chr2:209153000-209159000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:209153200-209165800	Weak transcription	Fetal Heart	heart
26	chr2:209153400-209159000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:209153800-209159000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:209153800-209161600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:209154000-209163400	Weak transcription	Left Ventricle	heart
30	chr2:209154000-209163600	Weak transcription	Colonic Mucosa	Colon
31	chr2:209154000-209168400	Weak transcription	NHLF	lung
32	chr2:209154600-209159200	Weak transcription	Fetal Stomach	stomach
33	chr2:209154600-209164200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:209155000-209163400	Weak transcription	Aorta	Aorta
35	chr2:209155000-209163400	Weak transcription	Pancreas	Pancrea
36	chr2:209155400-209159000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:209155400-209164600	Weak transcription	Psoas Muscle	Psoas
38	chr2:209155400-209168400	Weak transcription	HSMMtube	muscle
39	chr2:209155400-209169400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:209155600-209158800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:209155600-209159000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:209155600-209159000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:209155600-209159200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:209155600-209159200	Weak transcription	Thymus	Thymus
45	chr2:209155600-209160800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:209155600-209160800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:209155600-209161200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:209155600-209161400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:209155600-209161600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr2:209155600-209163200	Weak transcription	HUVEC	blood vessel

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