Variant report

Variant	rs550290053
Chromosome Location	chr9:94599928-94599929
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94599805..94602377-chr9:94607458..94609463,2	K562	blood:
2	chr9:94596693..94598646-chr9:94599586..94601943,2	K562	blood:
3	chr9:94597586..94601465-chr9:94602257..94605897,5	K562	blood:
4	chr9:94596679..94601637-chr9:94602257..94606458,6	K562	blood:
5	chr9:94592183..94593862-chr9:94599250..94601160,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv6614	chr9:94571349-94610085	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3436815	chr9:94599631-94603929	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94594600-94610800	Enhancers	Fetal Thymus	thymus
2	chr9:94595600-94600000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:94595600-94600600	Enhancers	Fetal Stomach	stomach
4	chr9:94595800-94600200	Enhancers	Fetal Lung	lung
5	chr9:94596400-94605200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:94596600-94600200	Enhancers	Rectal Smooth Muscle	rectum
7	chr9:94596600-94600400	Weak transcription	NHDF-Ad	bronchial
8	chr9:94596600-94600600	Weak transcription	Spleen	Spleen
9	chr9:94596800-94600800	Weak transcription	Esophagus	oesophagus
10	chr9:94597000-94605800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:94597200-94600200	Enhancers	Colon Smooth Muscle	Colon
12	chr9:94597600-94600400	Weak transcription	Fetal Intestine Large	intestine
13	chr9:94597600-94600600	Weak transcription	Pancreas	Pancrea
14	chr9:94597600-94601600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:94597800-94600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:94597800-94602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:94598000-94600200	Weak transcription	Fetal Intestine Small	intestine
18	chr9:94598000-94604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:94598200-94600200	Weak transcription	Right Atrium	heart
20	chr9:94598200-94605600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:94598400-94600200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:94598800-94600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:94598800-94600400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:94598800-94600400	Enhancers	Stomach Smooth Muscle	stomach
25	chr9:94599000-94600400	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:94599000-94600800	Enhancers	Primary B cells from peripheral blood	blood
27	chr9:94599200-94600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:94599200-94600600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr9:94599200-94600600	Weak transcription	Placenta	Placenta
30	chr9:94599200-94600600	Weak transcription	Gastric	stomach
31	chr9:94599200-94600600	Weak transcription	Lung	lung
32	chr9:94599200-94600600	Weak transcription	Right Ventricle	heart
33	chr9:94599200-94600800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:94599200-94601800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:94599200-94604400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:94599200-94604600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:94599400-94602000	Weak transcription	GM12878-XiMat	blood
38	chr9:94599600-94600400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:94599600-94600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:94599800-94600000	Enhancers	Colonic Mucosa	Colon
41	chr9:94599800-94600200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr9:94599800-94600200	Weak transcription	Ovary	ovary
43	chr9:94599800-94600600	Enhancers	Fetal Kidney	kidney
44	chr9:94599800-94600800	Enhancers	Duodenum Mucosa	Duodenum
45	chr9:94599800-94601000	Enhancers	Stomach Mucosa	stomach
46	chr9:94599800-94601200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:94599800-94601200	Flanking Active TSS	Fetal Heart	heart
48	chr9:94599800-94601800	Enhancers	K562	blood

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