Variant report

Variant	rs17415112
Chromosome Location	chr10:99204791-99204792
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:12)
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:12 , 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	chr10:99204791..99207168-chr10:99222392..99224598,2	MCF-7	breast:
5	chr10:99199076..99202605-chr10:99202848..99205582,6	K562	blood:
6	chr10:99203371..99205386-chr10:99311046..99312878,2	K562	blood:
7	chr10:99158767..99161294-chr10:99204142..99206207,3	K562	blood:
8	chr10:99187101..99190236-chr10:99202891..99208015,7	MCF-7	breast:
9	chr10:99145788..99148369-chr10:99203944..99206284,2	K562	blood:
10	chr10:99204416..99207741-chr10:99255231..99259773,5	K562	blood:
11	chr10:99204668..99206188-chr17:41464881..41466552,2	MCF-7	breast:
12	chr10:99185991..99188987-chr10:99203440..99207245,5	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC16	TF binding region
ENSG00000052749	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000224474	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000231970	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs764223	1.00[MKK][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17415112	CC2D2B	cis	cerebellum	SCAN
rs17415112	MMS19	cis	cerebellum	SCAN
rs17415112	SEC31B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99188600-99204800	Weak transcription	Right Atrium	heart
2	chr10:99188800-99205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:99192000-99205200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:99192200-99204800	Weak transcription	Psoas Muscle	Psoas
5	chr10:99196200-99204800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:99197000-99205000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:99197400-99205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:99197400-99205000	Weak transcription	Esophagus	oesophagus
9	chr10:99199000-99205000	Weak transcription	Pancreas	Pancrea
10	chr10:99199200-99205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:99199200-99205000	Weak transcription	Aorta	Aorta
12	chr10:99201200-99204800	Weak transcription	Adipose Nuclei	Adipose
13	chr10:99201200-99204800	Weak transcription	Brain Germinal Matrix	brain
14	chr10:99201200-99205200	Weak transcription	Spleen	Spleen
15	chr10:99203000-99205000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:99203000-99205200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:99203200-99204800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:99203200-99204800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:99203200-99204800	Weak transcription	Placenta	Placenta
20	chr10:99203200-99204800	Weak transcription	Thymus	Thymus
21	chr10:99203200-99205000	Weak transcription	Left Ventricle	heart
22	chr10:99203800-99205000	Weak transcription	Lung	lung
23	chr10:99204000-99204800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:99204000-99204800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr10:99204000-99204800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:99204000-99204800	Flanking Active TSS	GM12878-XiMat	blood
27	chr10:99204200-99204800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr10:99204200-99204800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:99204200-99204800	Genic enhancers	Primary B cells from cord blood	blood
30	chr10:99204200-99204800	Enhancers	Primary T cells from cord blood	blood
31	chr10:99204200-99204800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr10:99204200-99204800	Enhancers	Brain Angular Gyrus	brain
33	chr10:99204200-99204800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr10:99204200-99204800	Enhancers	Stomach Mucosa	stomach
35	chr10:99204200-99205000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:99204200-99205000	Enhancers	Primary B cells from peripheral blood	blood
37	chr10:99204200-99205000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:99204200-99205200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr10:99204200-99205200	Flanking Active TSS	Dnd41	blood
40	chr10:99204200-99205200	Flanking Active TSS	NHEK	skin
41	chr10:99204200-99207000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr10:99204400-99204800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:99204400-99204800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr10:99204400-99204800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr10:99204400-99204800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr10:99204400-99204800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr10:99204400-99204800	Enhancers	Fetal Heart	heart
48	chr10:99204400-99204800	Enhancers	Fetal Kidney	kidney
49	chr10:99204400-99204800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr10:99204400-99204800	Flanking Active TSS	A549	lung

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