Variant report

Variant	rs531807831
Chromosome Location	chr15:44584049-44584050
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	chr15:44583396..44585705-chr15:44587497..44589558,5	K562	blood:

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	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44579600-44585000	Active TSS	GM12878-XiMat	blood
2	chr15:44582000-44584800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:44582000-44588800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:44582000-44589000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:44582000-44591200	Weak transcription	Spleen	Spleen
6	chr15:44582000-44592000	Weak transcription	Esophagus	oesophagus
7	chr15:44582000-44602000	Weak transcription	Gastric	stomach
8	chr15:44582000-44639400	Weak transcription	Lung	lung
9	chr15:44582600-44587800	Weak transcription	Stomach Mucosa	stomach
10	chr15:44582800-44584200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:44582800-44584200	Enhancers	Fetal Brain Male	brain
12	chr15:44582800-44584400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:44582800-44584600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:44582800-44584600	Weak transcription	Fetal Intestine Small	intestine
15	chr15:44582800-44584800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:44582800-44588400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:44582800-44588800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:44582800-44588800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:44582800-44589200	Weak transcription	Colonic Mucosa	Colon
20	chr15:44582800-44672200	Weak transcription	HSMM	muscle
21	chr15:44583000-44584200	Enhancers	Brain Anterior Caudate	brain
22	chr15:44583000-44584200	Enhancers	Dnd41	blood
23	chr15:44583000-44584200	Enhancers	HepG2	liver
24	chr15:44583000-44584600	Weak transcription	Fetal Stomach	stomach
25	chr15:44583000-44584800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:44583000-44584800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:44583000-44584800	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:44583000-44585600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr15:44583000-44587200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr15:44583000-44587800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:44583000-44587800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:44583000-44587800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:44583000-44587800	Weak transcription	A549	lung
34	chr15:44583000-44588000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:44583000-44588000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:44583000-44588000	Weak transcription	HMEC	breast
37	chr15:44583000-44588200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:44583000-44588200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:44583000-44588200	Weak transcription	Adipose Nuclei	Adipose
40	chr15:44583000-44588200	Weak transcription	Fetal Intestine Large	intestine
41	chr15:44583000-44588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr15:44583000-44588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:44583000-44588400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:44583000-44588400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:44583000-44588400	Weak transcription	Fetal Kidney	kidney
46	chr15:44583000-44588800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr15:44583000-44588800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:44583000-44588800	Weak transcription	NHDF-Ad	bronchial
49	chr15:44583000-44589200	Weak transcription	HUVEC	blood vessel
50	chr15:44583000-44639400	Weak transcription	Fetal Lung	lung

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