Variant report

Variant	rs745730
Chromosome Location	chr9:116419536-116419537
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116166447..116168138-chr9:116418016..116420140,2	MCF-7	breast:
2	chr9:116410830..116412902-chr9:116418886..116421304,2	MCF-7	breast:
3	chr9:116419179..116421733-chr9:116422325..116423904,2	MCF-7	breast:
4	chr9:116170697..116173619-chr9:116417957..116421147,3	MCF-7	breast:
5	chr9:116352358..116352865-chr9:116419481..116420213,2	MCF-7	breast:
6	chr9:116331552..116333481-chr9:116417834..116420426,2	K562	blood:
7	chr9:116352986..116356030-chr9:116417056..116419740,3	MCF-7	breast:
8	chr9:116409796..116412169-chr9:116418517..116420512,2	MCF-7	breast:
9	chr9:116348055..116356711-chr9:116416824..116421069,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237073	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000138835	Chromatin interaction
ENSG00000157653	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1077072	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10817498	0.85[ASN][1000 genomes]
rs10981865	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10981866	0.85[ASN][1000 genomes]
rs10981867	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10981868	0.99[EUR][1000 genomes]
rs10981869	0.85[ASN][1000 genomes]
rs10981870	0.85[ASN][1000 genomes]
rs10981871	0.85[ASN][1000 genomes]
rs10981872	0.85[ASN][1000 genomes]
rs10981873	0.85[ASN][1000 genomes]
rs10981874	0.85[ASN][1000 genomes]
rs10981875	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16907724	0.93[EUR][1000 genomes]
rs2101069	0.85[ASN][1000 genomes]
rs2622266	0.88[EUR][1000 genomes]
rs59286569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59638505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031646	0.99[EUR][1000 genomes]
rs7031648	0.85[ASN][1000 genomes]
rs7031666	0.85[ASN][1000 genomes]
rs7047639	0.85[ASN][1000 genomes]
rs7047776	0.85[ASN][1000 genomes]
rs880205	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

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:74 , 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	chr9:116413400-116419800	Weak transcription	Fetal Kidney	kidney
4	chr9:116413400-116420000	Weak transcription	Gastric	stomach
5	chr9:116414000-116420600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:116415400-116420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:116415800-116421000	Enhancers	Fetal Muscle Leg	muscle
8	chr9:116416200-116422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:116416600-116420800	Enhancers	Spleen	Spleen
10	chr9:116417600-116419600	Weak transcription	Psoas Muscle	Psoas
11	chr9:116417600-116420600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:116417800-116419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:116417800-116419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:116417800-116419600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:116417800-116419600	Weak transcription	Fetal Intestine Small	intestine
16	chr9:116417800-116419600	Weak transcription	Fetal Lung	lung
17	chr9:116417800-116419600	Weak transcription	Left Ventricle	heart
18	chr9:116417800-116419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:116417800-116419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:116417800-116419800	Weak transcription	Brain Anterior Caudate	brain
21	chr9:116417800-116419800	Weak transcription	HSMM	muscle
22	chr9:116417800-116419800	Weak transcription	HSMMtube	muscle
23	chr9:116417800-116419800	Weak transcription	NHLF	lung
24	chr9:116417800-116420000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:116417800-116420000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:116417800-116420000	Weak transcription	Brain Angular Gyrus	brain
27	chr9:116417800-116420000	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:116417800-116420000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:116417800-116420000	Weak transcription	Brain Substantia Nigra	brain
30	chr9:116417800-116420000	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:116417800-116420000	Weak transcription	NHDF-Ad	bronchial
32	chr9:116417800-116420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:116417800-116420200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:116417800-116420200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:116417800-116420200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:116417800-116420200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:116417800-116420200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:116417800-116420200	Weak transcription	HMEC	breast
39	chr9:116417800-116420200	Weak transcription	NH-A	brain
40	chr9:116417800-116420200	Weak transcription	Osteobl	bone
41	chr9:116417800-116420400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:116417800-116420400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:116417800-116420600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:116417800-116420600	Weak transcription	A549	lung
45	chr9:116417800-116420800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr9:116417800-116421200	Enhancers	HUVEC	blood vessel
47	chr9:116418000-116419600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:116418000-116420000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr9:116418000-116420000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr9:116418000-116420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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