Variant report

Variant	rs28485705
Chromosome Location	chr9:98276105-98276106
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:98275848-98276300	Hela-S3	cervix:	n/a	n/a
2	IRF1	chr9:98276043-98276161	K562	blood:	n/a	n/a
3	POLR2A	chr9:98271292-98278496	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:98073533..98075085-chr9:98273778..98276270,2	K562	blood:
2	chr9:98186276..98191956-chr9:98269234..98276633,9	K562	blood:

Variant related genes	Relation type
ENSG00000271659	TF binding region
ENSG00000237857	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17368876	0.81[EUR][1000 genomes]
rs17369383	0.83[EUR][1000 genomes]
rs1877456	0.97[EUR][1000 genomes]
rs2066836	0.83[AFR][1000 genomes]
rs2274693	0.83[EUR][1000 genomes]
rs2274694	0.83[EUR][1000 genomes]
rs2297087	0.83[EUR][1000 genomes]
rs28394554	0.83[EUR][1000 genomes]
rs28410513	0.96[EUR][1000 genomes]
rs28411363	0.84[EUR][1000 genomes]
rs28412122	0.97[EUR][1000 genomes]
rs28442014	0.83[EUR][1000 genomes]
rs28468571	0.95[EUR][1000 genomes]
rs28488553	0.83[EUR][1000 genomes]
rs28491365	0.96[EUR][1000 genomes]
rs28504341	0.83[EUR][1000 genomes]
rs28506778	0.83[AFR][1000 genomes]
rs28508520	1.00[AFR][1000 genomes]
rs28513082	0.83[AFR][1000 genomes]
rs28576382	0.83[AFR][1000 genomes]
rs28633576	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28702657	0.83[EUR][1000 genomes]
rs28704635	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28705285	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28723573	0.83[AFR][1000 genomes]
rs28766444	0.83[AFR][1000 genomes]
rs28773488	0.83[AFR][1000 genomes]
rs3758301	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3847312	0.83[AFR][1000 genomes]
rs3847315	0.83[AFR][1000 genomes]
rs56180132	0.83[AFR][1000 genomes]
rs57560832	1.00[AFR][1000 genomes]
rs62558340	0.83[EUR][1000 genomes]
rs62561362	0.83[AFR][1000 genomes]
rs9632897	0.81[EUR][1000 genomes]
rs9632898	0.81[EUR][1000 genomes]
rs9632916	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr9:98273800-98277800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:98274000-98277800	Weak transcription	Gastric	stomach
3	chr9:98274200-98277400	Active TSS	Rectal Smooth Muscle	rectum
4	chr9:98274200-98278000	Weak transcription	Aorta	Aorta
5	chr9:98274400-98277200	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr9:98274400-98277600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:98274400-98277600	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:98274400-98278000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:98274600-98278000	Weak transcription	Pancreas	Pancrea
10	chr9:98274600-98279600	Active TSS	Duodenum Mucosa	Duodenum
11	chr9:98274800-98276600	Flanking Active TSS	Fetal Lung	lung
12	chr9:98274800-98277800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:98274800-98278200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:98275000-98276600	Bivalent Enhancer	Fetal Brain Male	brain
15	chr9:98275000-98276600	Enhancers	HepG2	liver
16	chr9:98275000-98277400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr9:98275000-98277600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:98275000-98277600	Weak transcription	Brain Angular Gyrus	brain
19	chr9:98275000-98277600	Weak transcription	Brain Anterior Caudate	brain
20	chr9:98275000-98277600	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:98275000-98277600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:98275000-98277600	Weak transcription	Esophagus	oesophagus
23	chr9:98275000-98277800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:98275000-98277800	Weak transcription	Left Ventricle	heart
25	chr9:98275000-98277800	Weak transcription	HMEC	breast
26	chr9:98275000-98277800	Weak transcription	HSMM	muscle
27	chr9:98275200-98276400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:98275200-98276600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:98275200-98276800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:98275200-98277400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr9:98275200-98277400	Weak transcription	Colonic Mucosa	Colon
32	chr9:98275200-98277600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:98275200-98277600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:98275200-98277600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:98275200-98277600	Weak transcription	Ovary	ovary
36	chr9:98275200-98277800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:98275200-98277800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:98275200-98277800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:98275200-98278000	Weak transcription	Lung	lung
40	chr9:98275200-98278000	Weak transcription	Right Atrium	heart
41	chr9:98275200-98278000	Weak transcription	HSMMtube	muscle
42	chr9:98275400-98276200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:98275400-98276600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr9:98275400-98276800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:98275400-98277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:98275400-98277600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr9:98275400-98277600	Weak transcription	NHLF	lung
48	chr9:98275400-98277800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:98275400-98277800	Weak transcription	Right Ventricle	heart
50	chr9:98275400-98277800	Weak transcription	NHEK	skin

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