Variant report

Variant	rs11870381
Chromosome Location	chr17:19957952-19957953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19957951-19958001	H1-hESC	embryonic stem cell:	embryo
2	chr17:19957951-19958001	HRPEpiC	eye:	n/a
3	chr17:19957951-19958001	ovcar-3	ovarian:	n/a
4	chr17:19957951-19958001	GM19239	blood:	n/a
5	chr17:19957951-19958001	HCF	heart:	n/a
6	chr17:19957951-19958001	SK-N-SH	brain:	n/a
7	chr17:19957951-19958001	CMK	blood:	n/a
8	chr17:19957951-19958001	Hela-S3	cervix:	n/a
9	chr17:19957951-19958001	K562	blood:	n/a
10	chr17:19957951-19958001	GM06990	blood:	n/a
11	chr17:19957951-19958001	HRE	kidney:	n/a
12	chr17:19957951-19958001	HCT-116	colon:	n/a
13	chr17:19957951-19958001	AG09319	gingival:	n/a
14	chr17:19957951-19958001	Caco-2	colon:	n/a
15	chr17:19957951-19958001	HL-60	blood:	n/a
16	chr17:19957951-19958001	AG10803	skin:	n/a
17	chr17:19957951-19958001	NHBE	bronchial:	n/a
18	chr17:19957951-19958001	A549	lung:	n/a
19	chr17:19957951-19958001	HNPCEpiC	eye:	n/a
20	chr17:19957951-19958001	NT2-D1	testis:	n/a
21	chr17:19957951-19958001	HPAEpiC	pulmonary alveolar:	n/a
22	chr17:19957951-19958001	ProgFib	skin:	n/a
23	chr17:19957951-19958001	PANC-1	pancreas:	n/a
24	chr17:19957951-19958001	NH-A	brain:	n/a
25	chr17:19957951-19958001	AG09309	skin:	n/a
26	chr17:19957951-19958001	AG04450	lung:	fetal
27	chr17:19957951-19958001	HEK293	kidney:	embryo
28	chr17:19957951-19958001	GM12878	blood:	n/a
29	chr17:19957951-19958001	U87	brain:	n/a
30	chr17:19957951-19958001	HRCEpiC	kidney:	n/a
31	chr17:19957951-19958001	Hepatocyte	liver:	n/a
32	chr17:19957951-19958001	BE2_C	brain:	n/a
33	chr17:19957951-19958001	NB4	blood:	n/a
34	chr17:19957951-19958001	NHDF-neo	bronchial:	n/a
35	chr17:19957951-19958001	PFSK-1	brain:	n/a
36	chr17:19957951-19958001	AoSMC	blood vessel:	n/a
37	chr17:19957951-19958001	HCPEpiC	choroid plexus:	n/a
38	chr17:19957951-19958001	T-47D	breast:	n/a
39	chr17:19957951-19958001	SAEC	small airway:	n/a
40	chr17:19957951-19958001	HMEC	breast:	n/a
41	chr17:19957951-19958001	RPTEC	kidney:	n/a
42	chr17:19957951-19958001	HEEpiC	esophagus:	n/a
43	chr17:19957951-19958001	GM12892	blood:	n/a
44	chr17:19957951-19958001	ECC-1	luminal epithelium:	n/a
45	chr17:19957951-19958001	HCM	heart:	n/a
46	chr17:19957951-19958001	HUVEC	blood vessel:	n/a
47	chr17:19957951-19958001	PrEC	prostate:	n/a
48	chr17:19957951-19958001	BJ	skin:	n/a
49	chr17:19957951-19958001	SKMC	muscle:	n/a
50	chr17:19957951-19958001	Jurkat	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:19950835..19953752-chr17:19957285..19959162,2	K562	blood:
2	chr17:19957236..19958763-chr17:19963646..19966262,2	K562	blood:
3	chr17:19911303..19913240-chr17:19956508..19959161,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225681	CpG island
ENSG00000128487	Chromatin interaction
ENSG00000261033	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11204422	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11867585	0.90[JPT][hapmap]
rs11867646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11867652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868146	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11869931	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11870578	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11870673	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12451216	0.86[ASN][1000 genomes]
rs12451841	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12453332	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12942179	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12947713	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12949710	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1468953	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1638526	0.90[JPT][hapmap]
rs17685923	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17686798	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17759959	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2072337	0.90[JPT][hapmap]
rs28424266	0.90[JPT][hapmap]
rs34370440	0.86[ASN][1000 genomes]
rs34756775	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35041742	0.80[ASN][1000 genomes]
rs35124809	0.88[ASN][1000 genomes]
rs35156798	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs35191778	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35244101	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35493088	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35770292	0.85[ASN][1000 genomes]
rs36051592	0.82[ASN][1000 genomes]
rs3940274	0.83[ASN][1000 genomes]
rs4141185	0.90[JPT][hapmap]
rs4341795	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4346259	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4350625	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4471741	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4570919	0.90[JPT][hapmap]
rs4924808	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4925075	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4925076	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4925078	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4925082	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4925088	0.82[JPT][hapmap]
rs57146223	0.91[ASN][1000 genomes]
rs60496867	0.92[EUR][1000 genomes]
rs62067488	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6587207	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7207459	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7209653	0.90[JPT][hapmap]
rs7215803	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7219688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7223984	1.00[EUR][1000 genomes]
rs7224875	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7225249	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs73981864	0.94[EUR][1000 genomes]
rs7503407	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8066705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068484	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8074791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075343	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8080190	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8081817	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs888424	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs972966	0.83[ASN][1000 genomes]
rs9897653	0.90[JPT][hapmap]
rs9899251	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9901125	0.86[ASN][1000 genomes]
rs9901294	0.90[JPT][hapmap]
rs9915039	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9944451	0.90[JPT][hapmap]

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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056224	chr17:19946604-19993026	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv543258	chr17:19946604-19993026	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1066594	chr17:19947874-19986671	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv543259	chr17:19947874-19986671	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11870381	AKAP10	cis	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19943800-19965800	Weak transcription	Aorta	Aorta
2	chr17:19948200-19966400	Weak transcription	Brain Angular Gyrus	brain
3	chr17:19950800-19966400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:19957000-19962600	Weak transcription	K562	blood
5	chr17:19957000-19965800	Weak transcription	Ovary	ovary
6	chr17:19957000-19967000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:19957200-19962600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr17:19957200-19962800	Weak transcription	Brain Hippocampus Middle	brain
9	chr17:19957400-19961000	Weak transcription	A549	lung
10	chr17:19957400-19962600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr17:19957400-19963000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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