Variant report

Variant	rs1821007
Chromosome Location	chr8:8725229-8725230
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	chr8:8715810..8717971-chr8:8724783..8726662,2	K562	blood:
2	chr8:8716471..8722141-chr8:8722765..8728048,6	K562	blood:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1567398	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332037	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs332039	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332040	0.88[ASN][1000 genomes]
rs3789843	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3827806	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs437895	0.80[ASN][1000 genomes]
rs4382480	0.91[ASN][1000 genomes]
rs440788	0.80[ASN][1000 genomes]
rs4523255	0.83[EUR][1000 genomes]
rs60707155	0.90[EUR][1000 genomes]
rs7017599	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs907183	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
12	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
13	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1821007	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs1821007	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
2	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:8707200-8726600	Weak transcription	Pancreas	Pancrea
5	chr8:8708600-8726000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:8709000-8726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:8709400-8729400	Weak transcription	NHLF	lung
8	chr8:8709600-8726000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:8709600-8730000	Weak transcription	HSMMtube	muscle
10	chr8:8714400-8728000	Weak transcription	Ovary	ovary
11	chr8:8714400-8730000	Weak transcription	Aorta	Aorta
12	chr8:8714800-8726000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:8714800-8728400	Weak transcription	Fetal Lung	lung
14	chr8:8714800-8730000	Weak transcription	Brain Angular Gyrus	brain
15	chr8:8715600-8726000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:8715600-8726000	Weak transcription	Small Intestine	intestine
17	chr8:8715800-8725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:8715800-8726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:8716400-8726800	Weak transcription	Spleen	Spleen
20	chr8:8717000-8725800	Weak transcription	Dnd41	blood
21	chr8:8717600-8725800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:8717600-8726200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:8717800-8735200	Weak transcription	Esophagus	oesophagus
24	chr8:8718000-8730000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:8718200-8725600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:8718200-8728200	Weak transcription	Lung	lung
27	chr8:8718200-8729800	Weak transcription	Right Ventricle	heart
28	chr8:8718400-8725800	Weak transcription	Fetal Kidney	kidney
29	chr8:8718400-8726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:8718400-8726400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:8718600-8725600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:8718600-8725800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:8718600-8726000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:8718600-8726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:8718600-8726000	Weak transcription	A549	lung
37	chr8:8718600-8726400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:8718600-8726600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:8718600-8728000	Weak transcription	Osteobl	bone
40	chr8:8718600-8729400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:8718600-8729800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:8718800-8726000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:8718800-8727200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:8718800-8730400	Weak transcription	HSMM	muscle
45	chr8:8719000-8730400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:8719400-8725800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:8719400-8727200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:8719800-8729400	Weak transcription	NH-A	brain
49	chr8:8721000-8726200	Weak transcription	Fetal Brain Female	brain
50	chr8:8721200-8725400	Weak transcription	Fetal Brain Male	brain

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