Variant report

Variant	rs114121252
Chromosome Location	chr5:95172624-95172625
allele	C/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	chr5:95169767-95172654	GM12891	blood:	n/a	n/a
2	IKZF1	chr5:95172167-95172709	GM12878	blood:	n/a	n/a
3	NFIC	chr5:95172095-95172754	GM12878	blood:	n/a	n/a
4	RUNX3	chr5:95172174-95172653	GM12878	blood:	n/a	n/a
5	MEF2A	chr5:95172176-95172687	GM12878	blood:	n/a	chr5:95172408-95172424 chr5:95172667-95172681 chr5:95172409-95172424 chr5:95172410-95172421 chr5:95172408-95172423 chr5:95172404-95172425
6	RUNX3	chr5:95172151-95172707	GM12878	blood:	n/a	n/a
7	MEF2A	chr5:95172085-95172668	GM12878	blood:	n/a	chr5:95172408-95172424 chr5:95172409-95172424 chr5:95172410-95172421 chr5:95172408-95172423 chr5:95172404-95172425
8	ATF2	chr5:95172123-95172700	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95168597..95170209-chr5:95172089..95173618,2	K562	blood:
2	chr5:95167615..95170613-chr5:95172553..95174092,2	MCF-7	breast:
3	chr5:94981172..94985318-chr5:95169805..95176246,5	MCF-7	breast:
4	chr5:95157133..95161008-chr5:95170364..95173601,6	MCF-7	breast:
5	chr5:95131346..95133321-chr5:95171352..95173975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251000	TF binding region
ENSG00000173221	Chromatin interaction
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3425626	chr5:95172396-95175894	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95171000-95175400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:95171200-95172800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:95171200-95177800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:95171400-95172800	Enhancers	Small Intestine	intestine
5	chr5:95171600-95173400	Weak transcription	Brain Substantia Nigra	brain
6	chr5:95171800-95172800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:95171800-95172800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:95171800-95172800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:95171800-95172800	Enhancers	Brain Hippocampus Middle	brain
10	chr5:95171800-95172800	Enhancers	NHLF	lung
11	chr5:95171800-95173400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:95171800-95173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:95171800-95174000	Weak transcription	Lung	lung
14	chr5:95171800-95174200	Weak transcription	Fetal Intestine Large	intestine
15	chr5:95171800-95175400	Weak transcription	Esophagus	oesophagus
16	chr5:95171800-95175600	Weak transcription	Gastric	stomach
17	chr5:95171800-95176200	Weak transcription	Placenta	Placenta
18	chr5:95171800-95177200	Weak transcription	Colonic Mucosa	Colon
19	chr5:95171800-95177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:95171800-95178200	Weak transcription	Right Ventricle	heart
21	chr5:95171800-95178800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:95171800-95178800	Weak transcription	Left Ventricle	heart
23	chr5:95171800-95185800	Weak transcription	Pancreas	Pancrea
24	chr5:95172000-95172800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:95172000-95172800	Enhancers	Hela-S3	cervix
26	chr5:95172000-95172800	Enhancers	HUVEC	blood vessel
27	chr5:95172000-95173000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr5:95172000-95173000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:95172000-95173200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr5:95172200-95172800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr5:95172200-95173000	Enhancers	Primary T cells from cord blood	blood
32	chr5:95172200-95173600	Weak transcription	Psoas Muscle	Psoas
33	chr5:95172200-95174000	Weak transcription	Fetal Intestine Small	intestine
34	chr5:95172200-95174800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:95172200-95180400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:95172400-95172800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:95172400-95172800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:95172400-95172800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:95172400-95172800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:95172400-95172800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:95172400-95172800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:95172400-95173600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:95172400-95173800	Enhancers	Brain Cingulate Gyrus	brain
44	chr5:95172400-95175200	Weak transcription	Stomach Mucosa	stomach
45	chr5:95172400-95175400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:95172400-95177400	Weak transcription	A549	lung
47	chr5:95172600-95172800	Enhancers	Primary hematopoietic stem cells	blood
48	chr5:95172600-95172800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:95172600-95172800	Enhancers	Dnd41	blood
50	chr5:95172600-95173000	Enhancers	Skeletal Muscle Female	skeletal muscle

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