Variant report

Variant	rs2398818
Chromosome Location	chr9:95948047-95948048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95947943..95949965-chr9:95968515..95970941,2	K562	blood:
2	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131669	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10761197	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10821081	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2398821	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743899	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743902	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4743903	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4744182	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4744184	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6479461	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6479464	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7039424	1.00[AFR][1000 genomes]
rs7041800	0.95[ASN][1000 genomes]
rs7045686	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7858813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv614880	chr9:95930572-95978265	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3494114	chr9:95945281-95948679	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3494115	chr9:95945281-95948679	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95945800-95949200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:95945800-95949600	Active TSS	Brain Cingulate Gyrus	brain
3	chr9:95946000-95948200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr9:95946200-95948200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:95946200-95948200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:95946200-95948200	Active TSS	Brain Anterior Caudate	brain
7	chr9:95946200-95948400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr9:95946200-95948600	Active TSS	Brain Angular Gyrus	brain
9	chr9:95946200-95948600	Active TSS	Colon Smooth Muscle	Colon
10	chr9:95946200-95948600	Active TSS	Duodenum Mucosa	Duodenum
11	chr9:95946200-95948600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr9:95946200-95948600	Active TSS	Right Ventricle	heart
13	chr9:95946200-95948800	Active TSS	Rectal Smooth Muscle	rectum
14	chr9:95946200-95949400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:95946200-95949800	Active TSS	Left Ventricle	heart
16	chr9:95946800-95949800	Active TSS	Right Atrium	heart
17	chr9:95947000-95948200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:95947000-95949600	Weak transcription	Fetal Kidney	kidney
19	chr9:95947200-95948600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:95947200-95948800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
21	chr9:95947400-95948400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr9:95947400-95950400	Enhancers	Gastric	stomach
23	chr9:95947600-95948200	Enhancers	Fetal Brain Male	brain
24	chr9:95947600-95948200	Flanking Active TSS	Spleen	Spleen
25	chr9:95947600-95948400	Enhancers	Psoas Muscle	Psoas
26	chr9:95947600-95950000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr9:95947600-95950200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr9:95947600-95950200	Flanking Active TSS	Pancreas	Pancrea
29	chr9:95947600-95950400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr9:95947800-95948200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
31	chr9:95947800-95948200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr9:95947800-95948200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:95947800-95948200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:95947800-95948200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr9:95947800-95948200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
36	chr9:95947800-95948200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:95947800-95948200	Active TSS	Fetal Heart	heart
38	chr9:95947800-95948200	ZNF genes & repeats	Lung	lung
39	chr9:95947800-95948600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
40	chr9:95947800-95948800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:95947800-95949600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr9:95947800-95949800	Flanking Active TSS	HepG2	liver
43	chr9:95947800-95950000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr9:95947800-95950000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr9:95947800-95950400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr9:95947800-95950400	Flanking Active TSS	Fetal Brain Female	brain
47	chr9:95947800-95950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr9:95947800-95951800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr9:95948000-95948200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:95948000-95948200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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