Variant report

Variant	rs542657200
Chromosome Location	chr9:116418731-116418732
allele	G/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116166447..116168138-chr9:116418016..116420140,2	MCF-7	breast:
2	chr9:116353759..116354517-chr9:116418655..116419465,2	K562	blood:
3	chr9:116236389..116238699-chr9:116416514..116418989,2	MCF-7	breast:
4	chr9:116353846..116356462-chr9:116416610..116418742,2	K562	blood:
5	chr9:116170697..116173619-chr9:116417957..116421147,3	MCF-7	breast:
6	chr9:116358642..116361226-chr9:116416793..116418953,2	MCF-7	breast:
7	chr9:116036759..116038980-chr9:116416097..116418826,3	MCF-7	breast:
8	chr9:116036620..116038894-chr9:116416639..116419058,2	K562	blood:
9	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
10	chr9:116331552..116333481-chr9:116417834..116420426,2	K562	blood:
11	chr9:116352986..116356030-chr9:116417056..116419740,3	MCF-7	breast:
12	chr9:116409796..116412169-chr9:116418517..116420512,2	MCF-7	breast:
13	chr9:116348055..116356711-chr9:116416824..116421069,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148229	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000237073	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:72 , 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	chr9:116416200-116422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:116416600-116420800	Enhancers	Spleen	Spleen
12	chr9:116417600-116419200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:116417600-116419600	Weak transcription	Psoas Muscle	Psoas
14	chr9:116417600-116420600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:116417800-116418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:116417800-116418800	Weak transcription	Placenta	Placenta
17	chr9:116417800-116418800	Weak transcription	Ovary	ovary
18	chr9:116417800-116419000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:116417800-116419400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:116417800-116419400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:116417800-116419400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:116417800-116419400	Weak transcription	Liver	Liver
23	chr9:116417800-116419400	Weak transcription	Fetal Heart	heart
24	chr9:116417800-116419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:116417800-116419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:116417800-116419600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr9:116417800-116419600	Weak transcription	Fetal Intestine Small	intestine
28	chr9:116417800-116419600	Weak transcription	Fetal Lung	lung
29	chr9:116417800-116419600	Weak transcription	Left Ventricle	heart
30	chr9:116417800-116419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:116417800-116419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:116417800-116419800	Weak transcription	Brain Anterior Caudate	brain
33	chr9:116417800-116419800	Weak transcription	HSMM	muscle
34	chr9:116417800-116419800	Weak transcription	HSMMtube	muscle
35	chr9:116417800-116419800	Weak transcription	NHLF	lung
36	chr9:116417800-116420000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr9:116417800-116420000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:116417800-116420000	Weak transcription	Brain Angular Gyrus	brain
39	chr9:116417800-116420000	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:116417800-116420000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:116417800-116420000	Weak transcription	Brain Substantia Nigra	brain
42	chr9:116417800-116420000	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:116417800-116420000	Weak transcription	NHDF-Ad	bronchial
44	chr9:116417800-116420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:116417800-116420200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr9:116417800-116420200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:116417800-116420200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:116417800-116420200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr9:116417800-116420200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr9:116417800-116420200	Weak transcription	HMEC	breast

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