Variant report

Variant	rs1044416
Chromosome Location	chr2:209101467-209101468
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	POLR2A	chr2:209099467-209120161	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000263524	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv875751	chr2:209042963-209110784	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525747	chr2:209087335-209116753	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv963771	chr2:209101041-209101541	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209087600-209103400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:209090000-209103000	Weak transcription	Osteobl	bone
3	chr2:209090000-209104400	Weak transcription	NHEK	skin
4	chr2:209091000-209102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:209093000-209118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:209095200-209101600	Weak transcription	HepG2	liver
7	chr2:209095400-209101800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:209096200-209104400	Weak transcription	HSMM	muscle
9	chr2:209097200-209101800	Weak transcription	Fetal Lung	lung
10	chr2:209097200-209102000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:209097200-209102000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:209097400-209104600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:209097600-209101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:209097800-209103000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:209097800-209103800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:209097800-209104400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:209098200-209102800	Weak transcription	Lung	lung
18	chr2:209098200-209103000	Weak transcription	Esophagus	oesophagus
19	chr2:209098200-209103400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:209098400-209101600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:209098400-209101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:209098400-209103000	Weak transcription	Brain Angular Gyrus	brain
23	chr2:209098400-209103200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:209098400-209103400	Weak transcription	GM12878-XiMat	blood
25	chr2:209098400-209104400	Weak transcription	Pancreas	Pancrea
26	chr2:209098800-209101800	Weak transcription	Brain Substantia Nigra	brain
27	chr2:209098800-209101800	Weak transcription	HSMMtube	muscle
28	chr2:209098800-209102000	Weak transcription	Right Ventricle	heart
29	chr2:209098800-209103000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:209098800-209103200	Weak transcription	NH-A	brain
31	chr2:209098800-209109400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:209098800-209112200	Weak transcription	Colonic Mucosa	Colon
33	chr2:209099000-209103400	Weak transcription	Thymus	Thymus
34	chr2:209099000-209104600	Weak transcription	Small Intestine	intestine
35	chr2:209099000-209106400	Weak transcription	Psoas Muscle	Psoas
36	chr2:209099200-209101800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:209099200-209102000	Weak transcription	Fetal Intestine Large	intestine
38	chr2:209099400-209110400	Weak transcription	NHLF	lung
39	chr2:209099600-209103200	Weak transcription	K562	blood
40	chr2:209099600-209103400	Weak transcription	Spleen	Spleen
41	chr2:209099600-209113000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:209099600-209114600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:209099800-209101600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:209099800-209103400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:209099800-209110000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:209099800-209113600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:209099800-209115000	Strong transcription	Fetal Brain Female	brain
48	chr2:209099800-209117000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:209099800-209117200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr2:209099800-209118000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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