Variant report

Variant	rs114740049
Chromosome Location	chr4:88267288-88267289
allele	A/C
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	chr4:88267212-88267501	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255723	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv4412	chr4:88237813-88283368	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv3513966	chr4:88267269-88274737	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88253800-88274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:88255000-88268200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:88255200-88267800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr4:88255200-88274400	Weak transcription	GM12878-XiMat	blood
7	chr4:88255200-88285600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:88255800-88278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:88256000-88274800	Weak transcription	A549	lung
11	chr4:88256200-88292800	Weak transcription	Gastric	stomach
12	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
13	chr4:88257000-88291000	Weak transcription	HUVEC	blood vessel
14	chr4:88257600-88267600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:88258000-88278000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:88258000-88285400	Weak transcription	Small Intestine	intestine
18	chr4:88259200-88277200	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:88259200-88283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:88259400-88267400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr4:88261000-88280000	Weak transcription	Left Ventricle	heart
22	chr4:88261000-88283200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:88261200-88285000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:88262200-88280200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:88262600-88274200	Weak transcription	K562	blood
26	chr4:88262600-88274400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:88262800-88267600	Weak transcription	Ovary	ovary
28	chr4:88263000-88267600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:88263000-88267600	Weak transcription	Placenta	Placenta
30	chr4:88263000-88274600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:88263000-88274600	Weak transcription	Colonic Mucosa	Colon
32	chr4:88263000-88277000	Weak transcription	Lung	lung
33	chr4:88263000-88277000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:88263000-88278000	Weak transcription	Stomach Mucosa	stomach
35	chr4:88263000-88280000	Weak transcription	Pancreas	Pancrea
36	chr4:88263200-88281600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:88263400-88267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:88263600-88274600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:88264000-88277000	Weak transcription	HSMM	muscle
40	chr4:88264200-88285600	Weak transcription	Spleen	Spleen
41	chr4:88264400-88279800	Weak transcription	Hela-S3	cervix
42	chr4:88265400-88267800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:88265400-88267800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr4:88265600-88267400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:88265600-88267600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:88265600-88267600	Strong transcription	HepG2	liver
47	chr4:88265600-88267800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr4:88265600-88268000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr4:88265600-88268000	Strong transcription	Fetal Thymus	thymus
50	chr4:88265800-88267400	Strong transcription	Dnd41	blood

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