Variant report

Variant	rs6999022
Chromosome Location	chr8:87523170-87523171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:87522681-87523186	K562	blood:	n/a	n/a
2	CEBPD	chr8:87522591-87523244	K562	blood:	n/a	n/a
3	GATA1	chr8:87521787-87523273	PBDE	blood:	n/a	chr8:87522222-87522233
4	TEAD4	chr8:87522584-87523285	K562	blood:	n/a	n/a
5	GATA2	chr8:87522653-87523198	K562	blood:	n/a	n/a
6	PML	chr8:87522603-87523232	K562	blood:	n/a	n/a
7	TEAD4	chr8:87522652-87523204	K562	blood:	n/a	n/a
8	TAL1	chr8:87522651-87523258	K562	blood:	n/a	n/a
9	STAT5A	chr8:87522626-87523225	K562	blood:	n/a	n/a
10	CEBPD	chr8:87522628-87523214	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87522736..87525471-chr8:87526558..87529264,4	K562	blood:
2	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:

Variant related genes	Relation type
CPNE3	TF binding region
RMDN1	TF binding region
ENSG00000085719	Chromatin interaction
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10088389	0.82[ASN][1000 genomes]
rs10088739	0.81[ASN][1000 genomes]
rs10092164	0.81[ASN][1000 genomes]
rs10093238	0.83[ASN][1000 genomes]
rs10093379	0.81[ASN][1000 genomes]
rs10095129	0.83[ASN][1000 genomes]
rs10096443	0.81[ASN][1000 genomes]
rs10956853	0.83[ASN][1000 genomes]
rs1142528	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11781016	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12546331	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13251647	0.82[ASN][1000 genomes]
rs1946939	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1946940	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3883910	0.91[ASN][1000 genomes]
rs4961194	0.91[ASN][1000 genomes]
rs4961196	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs62510806	0.98[ASN][1000 genomes]
rs6415565	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6471345	0.80[ASN][1000 genomes]
rs6471349	0.83[ASN][1000 genomes]
rs6471351	0.83[ASN][1000 genomes]
rs6471352	0.84[ASN][1000 genomes]
rs6471354	0.85[ASN][1000 genomes]
rs6981299	0.81[ASN][1000 genomes]
rs6988601	0.83[ASN][1000 genomes]
rs7006629	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7015263	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7459811	0.90[ASN][1000 genomes]
rs7459897	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7460439	0.91[ASN][1000 genomes]
rs7463186	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7817738	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7818213	0.89[ASN][1000 genomes]
rs7820697	0.89[ASN][1000 genomes]
rs7822494	0.83[ASN][1000 genomes]
rs7823154	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9773093	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6999022	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs6999022	RMDN1	cis	Whole Blood	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87521200-87526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:87521200-87526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:87521400-87526200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:87521400-87526200	Weak transcription	Fetal Lung	lung
5	chr8:87521400-87526200	Weak transcription	Left Ventricle	heart
6	chr8:87521400-87526200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:87521400-87526200	Weak transcription	Stomach Mucosa	stomach
8	chr8:87521400-87526600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:87521600-87523400	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:87521600-87523400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:87521600-87523800	Weak transcription	Fetal Thymus	thymus
12	chr8:87521600-87523800	Weak transcription	GM12878-XiMat	blood
13	chr8:87521600-87524200	Weak transcription	Fetal Heart	heart
14	chr8:87521600-87524400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:87521600-87524600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:87521600-87524600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:87521600-87524800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:87521600-87525200	Enhancers	K562	blood
19	chr8:87521600-87525600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:87521600-87525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:87521600-87525800	Weak transcription	Primary T cells from cord blood	blood
22	chr8:87521600-87525800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:87521600-87525800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:87521600-87525800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:87521600-87526000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:87521600-87526000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:87521600-87526000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:87521600-87526000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:87521600-87526000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:87521600-87526000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:87521600-87526000	Weak transcription	Brain Angular Gyrus	brain
32	chr8:87521600-87526000	Weak transcription	Brain Anterior Caudate	brain
33	chr8:87521600-87526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:87521600-87526000	Weak transcription	Pancreas	Pancrea
35	chr8:87521600-87526000	Weak transcription	Small Intestine	intestine
36	chr8:87521600-87526200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:87521600-87526200	Weak transcription	Primary B cells from cord blood	blood
38	chr8:87521600-87526200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:87521600-87526200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:87521600-87526200	Weak transcription	Adipose Nuclei	Adipose
41	chr8:87521600-87526200	Weak transcription	Liver	Liver
42	chr8:87521600-87526200	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:87521600-87526200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:87521600-87526200	Weak transcription	Fetal Brain Female	brain
45	chr8:87521600-87526200	Weak transcription	Fetal Intestine Large	intestine
46	chr8:87521600-87526200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:87521600-87526200	Weak transcription	Placenta	Placenta
48	chr8:87521600-87526200	Weak transcription	Fetal Stomach	stomach
49	chr8:87521600-87526200	Weak transcription	Psoas Muscle	Psoas
50	chr8:87521600-87526200	Weak transcription	Rectal Mucosa Donor 29	rectum

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