Variant report

Variant	rs148482507
Chromosome Location	chr9:116418048-116418049
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 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	chr9:116208195..116209184-chr9:116417637..116418287,4	MCF-7	breast:
5	chr9:116353846..116356462-chr9:116416610..116418742,2	K562	blood:
6	chr9:116301103..116303347-chr9:116416136..116418556,2	MCF-7	breast:
7	chr9:116170697..116173619-chr9:116417957..116421147,3	MCF-7	breast:
8	chr9:116036369..116037533-chr9:116417343..116418092,4	K562	blood:
9	chr9:116353625..116354642-chr9:116417382..116418475,19	MCF-7	breast:
10	chr9:116358642..116361226-chr9:116416793..116418953,2	MCF-7	breast:
11	chr9:116036759..116038980-chr9:116416097..116418826,3	MCF-7	breast:
12	chr9:116036620..116038894-chr9:116416639..116419058,2	K562	blood:
13	chr9:116207957..116209207-chr9:116417121..116418431,8	K562	blood:
14	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
15	chr9:116036462..116038120-chr9:116415759..116418139,2	K562	blood:
16	chr9:116331552..116333481-chr9:116417834..116420426,2	K562	blood:
17	chr9:116352986..116356030-chr9:116417056..116419740,3	MCF-7	breast:
18	chr9:116208340..116209763-chr9:116417344..116418625,9	MCF-7	breast:
19	chr9:116342253..116346123-chr9:116415296..116418266,3	MCF-7	breast:
20	chr9:116348055..116356711-chr9:116416824..116421069,13	MCF-7	breast:
21	chr9:116412820..116415638-chr9:116416237..116418509,2	K562	blood:
22	chr9:116353637..116354753-chr9:116417023..116418365,35	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136875	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000138835	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000237073	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000227482	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:73 , 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	chr9:116414800-116418200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:116415000-116418200	Enhancers	Right Ventricle	heart
10	chr9:116415400-116420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:116415800-116418200	Enhancers	Fetal Muscle Trunk	muscle
12	chr9:116415800-116421000	Enhancers	Fetal Muscle Leg	muscle
13	chr9:116416200-116418200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr9:116416200-116418400	Enhancers	Fetal Stomach	stomach
15	chr9:116416200-116422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:116416600-116418200	Enhancers	Adipose Nuclei	Adipose
17	chr9:116416600-116418200	Enhancers	Pancreas	Pancrea
18	chr9:116416600-116420800	Enhancers	Spleen	Spleen
19	chr9:116417200-116418200	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:116417600-116419200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:116417600-116419600	Weak transcription	Psoas Muscle	Psoas
22	chr9:116417600-116420600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:116417800-116418600	Weak transcription	Lung	lung
24	chr9:116417800-116418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:116417800-116418800	Weak transcription	Placenta	Placenta
26	chr9:116417800-116418800	Weak transcription	Ovary	ovary
27	chr9:116417800-116419000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:116417800-116419400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:116417800-116419400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:116417800-116419400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr9:116417800-116419400	Weak transcription	Liver	Liver
32	chr9:116417800-116419400	Weak transcription	Fetal Heart	heart
33	chr9:116417800-116419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:116417800-116419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:116417800-116419600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:116417800-116419600	Weak transcription	Fetal Intestine Small	intestine
37	chr9:116417800-116419600	Weak transcription	Fetal Lung	lung
38	chr9:116417800-116419600	Weak transcription	Left Ventricle	heart
39	chr9:116417800-116419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:116417800-116419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:116417800-116419800	Weak transcription	Brain Anterior Caudate	brain
42	chr9:116417800-116419800	Weak transcription	HSMM	muscle
43	chr9:116417800-116419800	Weak transcription	HSMMtube	muscle
44	chr9:116417800-116419800	Weak transcription	NHLF	lung
45	chr9:116417800-116420000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr9:116417800-116420000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:116417800-116420000	Weak transcription	Brain Angular Gyrus	brain
48	chr9:116417800-116420000	Weak transcription	Brain Hippocampus Middle	brain
49	chr9:116417800-116420000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:116417800-116420000	Weak transcription	Brain Substantia Nigra	brain

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