Variant report

Variant	rs576974385
Chromosome Location	chr15:44599198-44599199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44598749..44601264-chr15:44602549..44605810,3	K562	blood:
2	chr15:44598927..44601826-chr15:44602549..44604440,2	K562	blood:

Variant related genes	Relation type
ENSG00000203573	Chromatin interaction
ENSG00000203574	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1035386	chr15:44498905-44677174	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44582000-44602000	Weak transcription	Gastric	stomach
2	chr15:44582000-44639400	Weak transcription	Lung	lung
3	chr15:44582800-44672200	Weak transcription	HSMM	muscle
4	chr15:44583000-44639400	Weak transcription	Fetal Lung	lung
5	chr15:44583200-44600800	Weak transcription	Fetal Thymus	thymus
6	chr15:44583200-44639200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr15:44583600-44602000	Weak transcription	Pancreas	Pancrea
8	chr15:44583800-44639200	Weak transcription	Brain Germinal Matrix	brain
9	chr15:44584200-44625600	Weak transcription	Fetal Brain Female	brain
10	chr15:44585400-44628200	Weak transcription	Thymus	Thymus
11	chr15:44586200-44600800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:44588000-44600800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:44589000-44601200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:44589000-44619000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:44589000-44631600	Weak transcription	Left Ventricle	heart
16	chr15:44589200-44599200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:44589200-44600000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:44589200-44626400	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:44589400-44600200	Weak transcription	Adipose Nuclei	Adipose
20	chr15:44589400-44607000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:44589400-44607600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:44589600-44599600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr15:44589600-44600200	Weak transcription	Fetal Kidney	kidney
24	chr15:44589600-44602200	Weak transcription	Psoas Muscle	Psoas
25	chr15:44589600-44605600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:44589600-44617400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:44589800-44599800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:44589800-44600600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:44589800-44600600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:44589800-44601800	Weak transcription	Osteobl	bone
31	chr15:44589800-44602000	Weak transcription	Right Atrium	heart
32	chr15:44589800-44625200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:44589800-44632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:44589800-44632400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:44589800-44632400	Weak transcription	NHLF	lung
36	chr15:44591400-44632800	Weak transcription	Hela-S3	cervix
37	chr15:44592200-44603000	Weak transcription	Esophagus	oesophagus
38	chr15:44592800-44600400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:44592800-44617600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:44592800-44639800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:44593000-44605800	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:44593200-44602800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr15:44593200-44621200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:44593200-44625600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:44593200-44639200	Weak transcription	K562	blood
46	chr15:44593200-44639400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:44593600-44599400	Weak transcription	Primary B cells from cord blood	blood
48	chr15:44593600-44603000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:44593600-44621200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:44593800-44599600	Weak transcription	Primary B cells from peripheral blood	blood

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