Variant report

Variant	rs11189223
Chromosome Location	chr10:99203348-99203349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99201866-99207144	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:99203302-99203352	NT2-D1	testis:	n/a
2	chr10:99203302-99203352	PFSK-1	brain:	n/a
3	chr10:99203302-99203352	Caco-2	colon:	n/a
4	chr10:99203302-99203352	HCF	heart:	n/a
5	chr10:99203302-99203352	NB4	blood:	n/a
6	chr10:99203302-99203352	HUVEC	blood vessel:	n/a
7	chr10:99203302-99203352	HCPEpiC	choroid plexus:	n/a
8	chr10:99203302-99203352	MCF10A-Er-Src	breast:	n/a
9	chr10:99203302-99203352	LNCaP	prostate:	n/a
10	chr10:99203302-99203352	AG04449	skin:	fetal
11	chr10:99203302-99203352	HNPCEpiC	eye:	n/a
12	chr10:99203302-99203352	HCM	heart:	n/a
13	chr10:99203302-99203352	H1-hESC	embryonic stem cell:	embryo
14	chr10:99203302-99203352	HRCEpiC	kidney:	n/a
15	chr10:99203302-99203352	Hepatocyte	liver:	n/a
16	chr10:99203302-99203352	AoSMC	blood vessel:	n/a
17	chr10:99203302-99203352	K562	blood:	n/a
18	chr10:99203302-99203352	BJ	skin:	n/a
19	chr10:99203302-99203352	IMR90	lung:	fetal
20	chr10:99203302-99203352	SKMC	muscle:	n/a
21	chr10:99203302-99203352	SK-N-MC	brain:	n/a
22	chr10:99203302-99203352	PANC-1	pancreas:	n/a
23	chr10:99203302-99203352	HRE	kidney:	n/a
24	chr10:99203302-99203352	HMEC	breast:	n/a
25	chr10:99203302-99203352	GM12892	blood:	n/a
26	chr10:99203302-99203352	T-47D	breast:	n/a
27	chr10:99203302-99203352	Jurkat	blood:	n/a
28	chr10:99203302-99203352	U87	brain:	n/a
29	chr10:99203302-99203352	BE2_C	brain:	n/a
30	chr10:99203302-99203352	HCT-116	colon:	n/a
31	chr10:99203302-99203352	HEEpiC	esophagus:	n/a
32	chr10:99203302-99203352	SK-N-SH	brain:	n/a
33	chr10:99203302-99203352	AG09319	gingival:	n/a
34	chr10:99203302-99203352	AG04450	lung:	fetal
35	chr10:99203302-99203352	NH-A	brain:	n/a
36	chr10:99203302-99203352	A549	lung:	n/a
37	chr10:99203302-99203352	HIPEpiC	eye:	n/a
38	chr10:99203302-99203352	CMK	blood:	n/a
39	chr10:99203302-99203352	NHBE	bronchial:	n/a
40	chr10:99203302-99203352	SAEC	small airway:	n/a
41	chr10:99203302-99203352	GM12891	blood:	n/a
42	chr10:99203302-99203352	ProgFib	skin:	n/a
43	chr10:99203302-99203352	HPAEpiC	pulmonary alveolar:	n/a
44	chr10:99203302-99203352	AG09309	skin:	n/a
45	chr10:99203302-99203352	HepG2	liver:	n/a
46	chr10:99203302-99203352	GM12878	blood:	n/a
47	chr10:99203302-99203352	HEK293	kidney:	embryo
48	chr10:99203302-99203352	PrEC	prostate:	n/a
49	chr10:99203302-99203352	NHDF-neo	bronchial:	n/a
50	chr10:99203302-99203352	MCF-7	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99185396..99188802-chr10:99202940..99206887,5	K562	blood:
2	chr10:99185304..99188802-chr10:99201388..99207254,8	K562	blood:
3	chr10:99167048..99167690-chr10:99202933..99203496,3	MCF-7	breast:
4	chr10:99199076..99202605-chr10:99202848..99205582,6	K562	blood:
5	chr10:99187101..99190236-chr10:99202891..99208015,7	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC16	TF binding region
ZDHHC16	CpG island
ENSG00000171314	Chromatin interaction
ENSG00000224474	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11189211	0.87[EUR][1000 genomes]
rs11189214	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11189221	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2861952	0.95[EUR][1000 genomes]
rs7071776	0.87[EUR][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11189223	RRP12	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99188600-99203600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:99188600-99204400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr10:99188600-99204400	Strong transcription	Fetal Thymus	thymus
4	chr10:99188600-99204600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:99188600-99204800	Weak transcription	Right Atrium	heart
6	chr10:99188800-99203400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:99188800-99203400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:99188800-99203800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:99188800-99204000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:99188800-99204200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:99188800-99204200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:99188800-99205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr10:99189000-99203800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:99189400-99203400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:99189400-99204200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:99189400-99204200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:99189400-99204400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:99189400-99204400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:99190000-99203400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:99190200-99203400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:99190200-99203400	Strong transcription	Liver	Liver
22	chr10:99192000-99205200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:99192200-99204800	Weak transcription	Psoas Muscle	Psoas
24	chr10:99193000-99203800	Strong transcription	Fetal Intestine Small	intestine
25	chr10:99196000-99204400	Weak transcription	Fetal Heart	heart
26	chr10:99196200-99204800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:99197000-99204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:99197000-99204600	Weak transcription	HUVEC	blood vessel
29	chr10:99197000-99205000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:99197200-99204200	Weak transcription	Primary B cells from cord blood	blood
31	chr10:99197200-99204600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:99197200-99204600	Weak transcription	HSMM	muscle
33	chr10:99197400-99204000	Weak transcription	HepG2	liver
34	chr10:99197400-99204200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr10:99197400-99205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:99197400-99205000	Weak transcription	Esophagus	oesophagus
37	chr10:99197600-99203800	Weak transcription	GM12878-XiMat	blood
38	chr10:99197600-99204600	Weak transcription	HSMMtube	muscle
39	chr10:99197800-99204200	Weak transcription	NHDF-Ad	bronchial
40	chr10:99197800-99204600	Weak transcription	Fetal Brain Male	brain
41	chr10:99198200-99204600	Weak transcription	Right Ventricle	heart
42	chr10:99198400-99204600	Weak transcription	Small Intestine	intestine
43	chr10:99199000-99205000	Weak transcription	Pancreas	Pancrea
44	chr10:99199200-99204000	Weak transcription	Colon Smooth Muscle	Colon
45	chr10:99199200-99204200	Weak transcription	NHEK	skin
46	chr10:99199200-99204600	Weak transcription	Colonic Mucosa	Colon
47	chr10:99199200-99204600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:99199200-99205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:99199200-99205000	Weak transcription	Aorta	Aorta
50	chr10:99199600-99204600	Weak transcription	H9 Cell Line	embryonic stem cell

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