Variant report

Variant	rs537165580
Chromosome Location	chr9:116418342-116418343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116166447..116168138-chr9:116418016..116420140,2	MCF-7	breast:
2	chr9:116353627..116354618-chr9:116417225..116418348,10	K562	blood:
3	chr9:116236389..116238699-chr9:116416514..116418989,2	MCF-7	breast:
4	chr9:116353846..116356462-chr9:116416610..116418742,2	K562	blood:
5	chr9:116301103..116303347-chr9:116416136..116418556,2	MCF-7	breast:
6	chr9:116170697..116173619-chr9:116417957..116421147,3	MCF-7	breast:
7	chr9:116353625..116354642-chr9:116417382..116418475,19	MCF-7	breast:
8	chr9:116358642..116361226-chr9:116416793..116418953,2	MCF-7	breast:
9	chr9:116036759..116038980-chr9:116416097..116418826,3	MCF-7	breast:
10	chr9:116036620..116038894-chr9:116416639..116419058,2	K562	blood:
11	chr9:116207957..116209207-chr9:116417121..116418431,8	K562	blood:
12	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
13	chr9:116331552..116333481-chr9:116417834..116420426,2	K562	blood:
14	chr9:116352986..116356030-chr9:116417056..116419740,3	MCF-7	breast:
15	chr9:116208340..116209763-chr9:116417344..116418625,9	MCF-7	breast:
16	chr9:116348055..116356711-chr9:116416824..116421069,13	MCF-7	breast:
17	chr9:116412820..116415638-chr9:116416237..116418509,2	K562	blood:
18	chr9:116353637..116354753-chr9:116417023..116418365,35	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148229	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000237073	Chromatin interaction
ENSG00000227482	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv893749	chr9:116378759-116439749	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv466512	chr9:116413751-116446881	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv615220	chr9:116413751-116446881	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3326886	chr9:116417931-116422229	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116411600-116420000	Weak transcription	Fetal Brain Female	brain
2	chr9:116412800-116420000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:116413400-116419000	Enhancers	HepG2	liver
4	chr9:116413400-116419800	Weak transcription	Fetal Kidney	kidney
5	chr9:116413400-116420000	Weak transcription	Gastric	stomach
6	chr9:116414000-116419400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:116414000-116420600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:116415400-116420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:116415800-116421000	Enhancers	Fetal Muscle Leg	muscle
10	chr9:116416200-116418400	Enhancers	Fetal Stomach	stomach
11	chr9:116416200-116422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr9:116416600-116420800	Enhancers	Spleen	Spleen
13	chr9:116417600-116419200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:116417600-116419600	Weak transcription	Psoas Muscle	Psoas
15	chr9:116417600-116420600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:116417800-116418600	Weak transcription	Lung	lung
17	chr9:116417800-116418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:116417800-116418800	Weak transcription	Placenta	Placenta
19	chr9:116417800-116418800	Weak transcription	Ovary	ovary
20	chr9:116417800-116419000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:116417800-116419400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:116417800-116419400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:116417800-116419400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:116417800-116419400	Weak transcription	Liver	Liver
25	chr9:116417800-116419400	Weak transcription	Fetal Heart	heart
26	chr9:116417800-116419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:116417800-116419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:116417800-116419600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:116417800-116419600	Weak transcription	Fetal Intestine Small	intestine
30	chr9:116417800-116419600	Weak transcription	Fetal Lung	lung
31	chr9:116417800-116419600	Weak transcription	Left Ventricle	heart
32	chr9:116417800-116419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:116417800-116419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:116417800-116419800	Weak transcription	Brain Anterior Caudate	brain
35	chr9:116417800-116419800	Weak transcription	HSMM	muscle
36	chr9:116417800-116419800	Weak transcription	HSMMtube	muscle
37	chr9:116417800-116419800	Weak transcription	NHLF	lung
38	chr9:116417800-116420000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr9:116417800-116420000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:116417800-116420000	Weak transcription	Brain Angular Gyrus	brain
41	chr9:116417800-116420000	Weak transcription	Brain Hippocampus Middle	brain
42	chr9:116417800-116420000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:116417800-116420000	Weak transcription	Brain Substantia Nigra	brain
44	chr9:116417800-116420000	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:116417800-116420000	Weak transcription	NHDF-Ad	bronchial
46	chr9:116417800-116420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:116417800-116420200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:116417800-116420200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:116417800-116420200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:116417800-116420200	Weak transcription	Rectal Mucosa Donor 31	rectum

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