Variant report

Variant	rs16904179
Chromosome Location	chr8:130958951-130958952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130956696..130958989-chr8:131027698..131030159,2	MCF-7	breast:
2	chr8:130950792..130953797-chr8:130957137..130959742,3	K562	blood:
3	chr8:130958128..130959766-chr8:130960080..130961800,2	MCF-7	breast:
4	chr8:130951967..130954903-chr8:130956690..130960495,4	K562	blood:
5	chr8:130957510..130960196-chr8:131026711..131028837,2	MCF-7	breast:
6	chr8:130950703..130953589-chr8:130957754..130959924,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10089850	1.00[CEU][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1670745	0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs4733750	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Post-traumatic stress disorder (asjusted for relatedness)	23726511	GWAS catalog

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130952600-130965600	Weak transcription	Aorta	Aorta
2	chr8:130952600-130965600	Weak transcription	Lung	lung
3	chr8:130952800-130959000	Weak transcription	Small Intestine	intestine
4	chr8:130952800-130960200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:130952800-130960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:130952800-130960400	Weak transcription	Esophagus	oesophagus
7	chr8:130952800-130965200	Weak transcription	Colonic Mucosa	Colon
8	chr8:130952800-130965400	Weak transcription	Gastric	stomach
9	chr8:130952800-130965400	Weak transcription	Pancreas	Pancrea
10	chr8:130952800-130965400	Weak transcription	Psoas Muscle	Psoas
11	chr8:130952800-130965400	Weak transcription	HSMMtube	muscle
12	chr8:130952800-130967800	Weak transcription	Right Ventricle	heart
13	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
14	chr8:130953000-130960000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:130953000-130965000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:130953000-130967400	Weak transcription	Fetal Stomach	stomach
17	chr8:130953000-130980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:130953200-130960000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:130953200-130960600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:130953200-130964800	Weak transcription	Brain Substantia Nigra	brain
21	chr8:130953200-130968800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:130953200-130969200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:130953200-130970400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:130953200-130974800	Weak transcription	Fetal Brain Female	brain
25	chr8:130953400-130965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:130953400-130965200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:130953400-130968800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:130953400-130969000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:130953400-130969400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:130953400-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:130953400-130982000	Weak transcription	Hela-S3	cervix
32	chr8:130953600-130975400	Weak transcription	HMEC	breast
33	chr8:130953600-130980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:130953800-130960600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:130954000-130962000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:130955400-130959400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:130955400-130961800	Strong transcription	Primary T cells from cord blood	blood
38	chr8:130956200-130963200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:130956600-130959200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:130956600-130959400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:130956800-130959200	Enhancers	Adipose Nuclei	Adipose
42	chr8:130956800-130959600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:130956800-130960400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:130956800-130960400	Weak transcription	Fetal Thymus	thymus
45	chr8:130957000-130959400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:130957000-130959800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:130957000-130960200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:130957000-130960400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:130957400-130960200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:130957800-130960000	Enhancers	Primary neutrophils fromperipheralblood	blood

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