Variant report

Variant	rs4415334
Chromosome Location	chr8:19436236-19436237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19436000..19438471-chr8:19438486..19440829,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4298501	0.81[CEU][hapmap];0.93[GIH][hapmap];0.80[MKK][hapmap]
rs4606078	0.80[CEU][hapmap];0.85[GIH][hapmap];0.83[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv465601	chr8:19434021-19456473	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv610755	chr8:19434021-19456473	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv610756	chr8:19434021-19471977	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4415334	CSGALNACT1	cis	parietal	SCAN
rs4415334	EGR3	cis	parietal	SCAN
rs4415334	PDGFRL	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19409000-19437400	Weak transcription	Gastric	stomach
2	chr8:19422600-19442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:19429800-19437000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:19430800-19438400	Weak transcription	Brain Anterior Caudate	brain
5	chr8:19431400-19436400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:19432000-19437400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:19433800-19436400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:19434000-19437800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:19434000-19457800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:19434200-19437800	Enhancers	Placenta	Placenta
11	chr8:19434400-19436400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:19434400-19442400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:19434600-19450800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:19434600-19451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:19435000-19437200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:19435000-19437800	Enhancers	Left Ventricle	heart
17	chr8:19435000-19457200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:19435200-19437400	Flanking Active TSS	A549	lung
19	chr8:19435200-19437800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:19435200-19438000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:19435400-19436800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:19435400-19437800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:19435400-19437800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:19435400-19438000	Enhancers	Ovary	ovary
25	chr8:19435400-19442600	Weak transcription	Primary T cells from cord blood	blood
26	chr8:19435600-19436800	Flanking Active TSS	Hela-S3	cervix
27	chr8:19435600-19436800	Enhancers	HepG2	liver
28	chr8:19435600-19437000	Enhancers	HUVEC	blood vessel
29	chr8:19435600-19437600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:19435600-19437600	Enhancers	Stomach Smooth Muscle	stomach
31	chr8:19435600-19437800	Enhancers	Right Atrium	heart
32	chr8:19435600-19437800	Enhancers	NHDF-Ad	bronchial
33	chr8:19435600-19438800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:19435800-19436400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:19435800-19436800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:19435800-19436800	Enhancers	Brain Substantia Nigra	brain
37	chr8:19435800-19437000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:19435800-19437000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:19435800-19437600	Enhancers	NH-A	brain
40	chr8:19436000-19436400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:19436000-19436800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:19436000-19436800	Enhancers	Right Ventricle	heart
43	chr8:19436000-19436800	Flanking Active TSS	Osteobl	bone
44	chr8:19436000-19437000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:19436000-19437000	Enhancers	NHEK	skin
46	chr8:19436000-19437600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:19436000-19437600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:19436000-19437600	Enhancers	Fetal Stomach	stomach
49	chr8:19436000-19437600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:19436000-19438000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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