Variant report

Variant	rs7081796
Chromosome Location	chr10:99204526-99204527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr10:99204460-99204870	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr10:99201866-99207144	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99185396..99188802-chr10:99202940..99206887,5	K562	blood:
2	chr10:99204257..99208828-chr10:99209002..99214217,10	MCF-7	breast:
3	chr10:99185304..99188802-chr10:99201388..99207254,8	K562	blood:
4	chr10:99199076..99202605-chr10:99202848..99205582,6	K562	blood:
5	chr10:99203371..99205386-chr10:99311046..99312878,2	K562	blood:
6	chr10:99158767..99161294-chr10:99204142..99206207,3	K562	blood:
7	chr10:99187101..99190236-chr10:99202891..99208015,7	MCF-7	breast:
8	chr10:99145788..99148369-chr10:99203944..99206284,2	K562	blood:
9	chr10:99204416..99207741-chr10:99255231..99259773,5	K562	blood:
10	chr10:99185991..99188987-chr10:99203440..99207245,5	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC16	TF binding region
ENSG00000231970	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000052749	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000224474	Chromatin interaction
ENSG00000171314	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2861955	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4304701	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7074007	0.93[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7090847	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs764223	0.86[CHB][hapmap]
rs928603	0.86[CHB][hapmap]

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	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7081796	RRP12	cis	parietal	SCAN
rs7081796	RRP12	cis	Muscle Skeletal	GTEx
rs7081796	KIAA0690	cis	multi-tissue	Pritchard
rs7081796	RRP12	cis	cerebellum	SCAN
rs7081796	FRAT2	cis	multi-tissue	Pritchard
rs7081796	FRAT1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99188600-99204600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:99188600-99204800	Weak transcription	Right Atrium	heart
3	chr10:99188800-99205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:99192000-99205200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr10:99192200-99204800	Weak transcription	Psoas Muscle	Psoas
6	chr10:99196200-99204800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:99197000-99204600	Weak transcription	HUVEC	blood vessel
8	chr10:99197000-99205000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:99197200-99204600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:99197200-99204600	Weak transcription	HSMM	muscle
11	chr10:99197400-99205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:99197400-99205000	Weak transcription	Esophagus	oesophagus
13	chr10:99197600-99204600	Weak transcription	HSMMtube	muscle
14	chr10:99197800-99204600	Weak transcription	Fetal Brain Male	brain
15	chr10:99198200-99204600	Weak transcription	Right Ventricle	heart
16	chr10:99198400-99204600	Weak transcription	Small Intestine	intestine
17	chr10:99199000-99205000	Weak transcription	Pancreas	Pancrea
18	chr10:99199200-99204600	Weak transcription	Colonic Mucosa	Colon
19	chr10:99199200-99204600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:99199200-99205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:99199200-99205000	Weak transcription	Aorta	Aorta
22	chr10:99199600-99204600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:99201000-99204600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:99201200-99204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:99201200-99204800	Weak transcription	Adipose Nuclei	Adipose
26	chr10:99201200-99204800	Weak transcription	Brain Germinal Matrix	brain
27	chr10:99201200-99205200	Weak transcription	Spleen	Spleen
28	chr10:99202600-99204600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr10:99203000-99204600	Weak transcription	Gastric	stomach
30	chr10:99203000-99204600	Weak transcription	Ovary	ovary
31	chr10:99203000-99204600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr10:99203000-99205000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:99203000-99205200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:99203200-99204600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr10:99203200-99204600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:99203200-99204600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:99203200-99204600	Weak transcription	Brain Substantia Nigra	brain
38	chr10:99203200-99204600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:99203200-99204600	Weak transcription	Fetal Intestine Large	intestine
40	chr10:99203200-99204600	Weak transcription	Fetal Muscle Leg	muscle
41	chr10:99203200-99204600	Weak transcription	Fetal Stomach	stomach
42	chr10:99203200-99204600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr10:99203200-99204600	Weak transcription	NH-A	brain
44	chr10:99203200-99204800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:99203200-99204800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr10:99203200-99204800	Weak transcription	Placenta	Placenta
47	chr10:99203200-99204800	Weak transcription	Thymus	Thymus
48	chr10:99203200-99205000	Weak transcription	Left Ventricle	heart
49	chr10:99203400-99204600	Weak transcription	Liver	Liver
50	chr10:99203400-99204600	Weak transcription	Rectal Mucosa Donor 31	rectum

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