Variant report

Variant	rs60008840
Chromosome Location	chr9:98263870-98263871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98170943..98172976-chr9:98263782..98265543,2	K562	blood:
2	chr9:98261417..98264468-chr9:98264904..98267634,4	MCF-7	breast:
3	chr9:98247877..98250406-chr9:98263082..98264686,2	K562	blood:
4	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
5	chr9:98253775..98259048-chr9:98260307..98264013,8	K562	blood:
6	chr9:98262094..98265423-chr9:98266222..98270404,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271314	Chromatin interaction
ENSG00000271155	Chromatin interaction
ENSG00000185920	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28509458	0.95[AFR][1000 genomes]
rs28687112	0.95[AFR][1000 genomes]
rs60031743	0.93[AFR][1000 genomes]
rs61184807	1.00[AFR][1000 genomes]
rs73527759	0.87[AFR][1000 genomes]
rs73527766	0.84[AFR][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	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	nsv1051665	chr9:98234404-98264577	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98223400-98266400	Weak transcription	Hela-S3	cervix
2	chr9:98240200-98267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:98242400-98266400	Weak transcription	HSMMtube	muscle
4	chr9:98242800-98266600	Weak transcription	Adipose Nuclei	Adipose
5	chr9:98243000-98267800	Weak transcription	Aorta	Aorta
6	chr9:98254000-98267400	Weak transcription	Small Intestine	intestine
7	chr9:98255600-98265000	Genic enhancers	Fetal Stomach	stomach
8	chr9:98257000-98264200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:98257000-98264200	Weak transcription	Gastric	stomach
10	chr9:98257400-98264400	Genic enhancers	Fetal Lung	lung
11	chr9:98257400-98266600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:98257400-98267000	Enhancers	Brain Hippocampus Middle	brain
13	chr9:98258000-98264200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:98258000-98266400	Enhancers	Ovary	ovary
15	chr9:98258600-98266400	Weak transcription	Esophagus	oesophagus
16	chr9:98259600-98266600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:98260000-98264200	Weak transcription	Psoas Muscle	Psoas
18	chr9:98260000-98266400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:98260000-98266600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr9:98260200-98264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:98260200-98264600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:98260200-98264800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:98260400-98264200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:98260400-98265200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr9:98260400-98265400	Weak transcription	A549	lung
26	chr9:98260400-98266400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:98260400-98266400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:98260400-98266400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:98260600-98264000	Weak transcription	Fetal Brain Female	brain
30	chr9:98260800-98266400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr9:98260800-98266400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:98260800-98266400	Weak transcription	NHDF-Ad	bronchial
33	chr9:98260800-98266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:98260800-98267000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:98261200-98265400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:98261400-98264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:98261400-98264200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:98261400-98264400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr9:98261400-98264800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr9:98261400-98266800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:98261600-98264200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:98261600-98266400	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:98261800-98264400	Weak transcription	Fetal Brain Male	brain
44	chr9:98261800-98265000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:98262000-98264000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:98262200-98264000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
47	chr9:98262200-98264200	Weak transcription	Left Ventricle	heart
48	chr9:98262200-98265200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:98262200-98266800	Enhancers	Fetal Heart	heart
50	chr9:98262400-98264200	Weak transcription	Right Ventricle	heart

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