Variant report

Variant	rs398043222
Chromosome Location	chr15:44121117-44121118
allele	-/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	ZNF384	chr15:44121017-44121190	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44082965..44094882-chr15:44108427..44121402,26	K562	blood:
2	chr15:44112442..44117510-chr15:44119138..44122295,7	K562	blood:
3	chr15:44069535..44071546-chr15:44121080..44123545,2	K562	blood:
4	chr15:44116010..44118806-chr15:44119254..44122105,3	K562	blood:

Variant related genes	Relation type
MFAP1	TF binding region
ENSG00000140259	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000128886	Chromatin interaction
ENSG00000184716	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000221792	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers 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 miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
10	nsv511550	chr15:44120559-44148142	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
11	esv1669583	chr15:44121116-44121117	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44117400-44150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:44118600-44121200	Active TSS	Brain Germinal Matrix	brain
3	chr15:44118800-44121400	Active TSS	GM12878-XiMat	blood
4	chr15:44119600-44121800	Weak transcription	Placenta	Placenta
5	chr15:44119600-44123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:44119600-44127200	Weak transcription	Left Ventricle	heart
7	chr15:44119600-44127200	Weak transcription	Ovary	ovary
8	chr15:44119600-44127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:44119600-44127600	Weak transcription	Gastric	stomach
10	chr15:44119600-44130600	Weak transcription	Brain Anterior Caudate	brain
11	chr15:44119600-44134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:44119600-44135200	Weak transcription	Lung	lung
13	chr15:44119600-44142000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:44119600-44143200	Weak transcription	Aorta	Aorta
15	chr15:44119600-44143400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
17	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
19	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
20	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
21	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
23	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:44119800-44121600	Enhancers	Fetal Heart	heart
25	chr15:44119800-44122800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:44119800-44127600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:44119800-44144400	Weak transcription	Right Ventricle	heart
28	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:44120000-44121200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:44120200-44121200	Active TSS	Fetal Thymus	thymus
31	chr15:44120200-44121400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:44120200-44122400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:44120200-44124400	Weak transcription	Fetal Intestine Small	intestine
34	chr15:44120200-44126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:44120200-44126800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:44120200-44126800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:44120200-44127800	Weak transcription	Primary B cells from cord blood	blood
38	chr15:44120200-44128000	Weak transcription	Adipose Nuclei	Adipose
39	chr15:44120200-44150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr15:44120400-44121400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:44120400-44121600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
42	chr15:44120400-44121600	Transcr. at gene 5' and 3'	K562	blood
43	chr15:44120400-44123800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:44120400-44125400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr15:44120400-44127000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:44120400-44128000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:44120400-44143000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:44120600-44121400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:44120600-44121400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr15:44120600-44121400	Enhancers	Cortex derived primary cultured neurospheres	brain

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