Variant report

Variant	rs10794488
Chromosome Location	chr16:47483640-47483641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:47481523..47483741-chr16:47529384..47531603,2	K562	blood:
2	chr16:47483080..47485293-chr16:47494461..47496130,2	K562	blood:
3	chr16:47482556..47484709-chr16:47493898..47495616,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102893	Chromatin interaction
ENSG00000129636	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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 target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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 target site	9 gene(s)	inside rSNPs	diseases
10	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	16 gene(s)	inside rSNPs	diseases
11	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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 target site	14 gene(s)	inside rSNPs	diseases
13	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic 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 target site	27 gene(s)	inside rSNPs	diseases
14	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47430400-47485600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr16:47442600-47483800	Weak transcription	Hela-S3	cervix
3	chr16:47445800-47483800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:47451600-47484000	Weak transcription	Small Intestine	intestine
5	chr16:47459200-47493400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:47459400-47484000	Weak transcription	Pancreas	Pancrea
7	chr16:47459400-47487200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr16:47459400-47493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:47459600-47487200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:47459600-47493400	Weak transcription	Esophagus	oesophagus
11	chr16:47459800-47484600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:47459800-47484800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:47459800-47493400	Weak transcription	Right Ventricle	heart
14	chr16:47459800-47494400	Weak transcription	Aorta	Aorta
15	chr16:47460000-47485400	Weak transcription	HSMMtube	muscle
16	chr16:47460200-47483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:47460200-47485600	Weak transcription	Colonic Mucosa	Colon
18	chr16:47460200-47485600	Weak transcription	NHLF	lung
19	chr16:47460200-47486800	Weak transcription	Fetal Kidney	kidney
20	chr16:47461600-47485600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:47461800-47485400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:47462000-47483800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:47462000-47484000	Weak transcription	Thymus	Thymus
24	chr16:47462000-47484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:47462000-47485600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr16:47462000-47486800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:47462000-47493400	Weak transcription	Gastric	stomach
28	chr16:47462000-47493400	Weak transcription	Spleen	Spleen
29	chr16:47462800-47484800	Weak transcription	HMEC	breast
30	chr16:47463600-47484000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr16:47466200-47483800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:47466400-47483800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr16:47466400-47485600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:47466600-47483800	Weak transcription	Brain Substantia Nigra	brain
35	chr16:47471000-47484400	Weak transcription	Fetal Brain Female	brain
36	chr16:47472200-47484000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:47472200-47484000	Weak transcription	Fetal Stomach	stomach
38	chr16:47472200-47484600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:47472200-47485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:47472200-47489600	Weak transcription	Fetal Intestine Small	intestine
41	chr16:47472200-47494000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:47472400-47493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:47472800-47492600	Weak transcription	Psoas Muscle	Psoas
44	chr16:47475200-47483800	Weak transcription	Fetal Thymus	thymus
45	chr16:47477800-47493200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr16:47478600-47487000	Weak transcription	Brain Angular Gyrus	brain
47	chr16:47478600-47487200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr16:47478600-47493000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr16:47478800-47492800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr16:47479000-47483800	Weak transcription	Colon Smooth Muscle	Colon

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