Variant report

Variant	rs332034
Chromosome Location	chr8:8717007-8717008
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	chr8:8715858..8717945-chr8:8749655..8752629,2	K562	blood:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs332031	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332032	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73190091	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1023221	chr8:8695393-8722418	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1024055	chr8:8697249-8721016	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv539459	chr8:8697249-8721016	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Conduct disorder (interaction)	18846501	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs332034	DEFB136	cis	cerebellum	SCAN
rs332034	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8692200-8717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
3	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:8703000-8725200	Weak transcription	Hela-S3	cervix
6	chr8:8705000-8723600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:8706200-8717400	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:8706200-8717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:8706400-8717600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:8707000-8717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:8707200-8726600	Weak transcription	Pancreas	Pancrea
12	chr8:8707400-8718200	Weak transcription	K562	blood
13	chr8:8707400-8721600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:8708600-8717600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:8708600-8726000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:8709000-8717400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:8709000-8717600	Weak transcription	Osteobl	bone
18	chr8:8709000-8726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:8709200-8723000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:8709400-8717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:8709400-8729400	Weak transcription	NHLF	lung
22	chr8:8709600-8717600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:8709600-8717600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:8709600-8717600	Weak transcription	HSMM	muscle
25	chr8:8709600-8721400	Weak transcription	Primary B cells from cord blood	blood
26	chr8:8709600-8721400	Weak transcription	Primary T cells from cord blood	blood
27	chr8:8709600-8726000	Weak transcription	Fetal Intestine Large	intestine
28	chr8:8709600-8730000	Weak transcription	HSMMtube	muscle
29	chr8:8709800-8717400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:8709800-8717400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:8709800-8720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:8709800-8721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:8709800-8721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:8710200-8717600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:8712200-8719800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:8712600-8718600	Enhancers	Fetal Brain Male	brain
37	chr8:8713400-8720000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:8713600-8717400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:8714000-8717400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:8714000-8717400	Weak transcription	Psoas Muscle	Psoas
41	chr8:8714000-8717600	Weak transcription	Brain Substantia Nigra	brain
42	chr8:8714400-8717400	Weak transcription	Brain Germinal Matrix	brain
43	chr8:8714400-8717600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:8714400-8717600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:8714400-8717600	Weak transcription	Left Ventricle	heart
46	chr8:8714400-8717600	Weak transcription	Lung	lung
47	chr8:8714400-8717600	Weak transcription	Right Ventricle	heart
48	chr8:8714400-8721400	Weak transcription	Right Atrium	heart
49	chr8:8714400-8722400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:8714400-8722400	Weak transcription	Stomach Smooth Muscle	stomach

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