Variant report

Variant	rs7189424
Chromosome Location	chr16:69782746-69782747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69360082..69362485-chr16:69781054..69783999,2	K562	blood:
2	chr16:69741256..69744048-chr16:69782349..69784566,2	MCF-7	breast:
3	chr16:69756628..69762611-chr16:69781362..69792848,24	MCF-7	breast:
4	chr16:69757842..69766785-chr16:69777221..69785696,15	K562	blood:

Variant related genes	Relation type
ENSG00000262136	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000238683	Chromatin interaction
ENSG00000261602	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10048108	0.87[EUR][1000 genomes]
rs10163235	0.87[EUR][1000 genomes]
rs10454066	0.85[EUR][1000 genomes]
rs10500551	0.82[EUR][1000 genomes]
rs11075733	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075734	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1139178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639947	0.81[EUR][1000 genomes]
rs11641233	0.82[EUR][1000 genomes]
rs11641521	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11643926	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11644838	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11644914	0.91[EUR][1000 genomes]
rs11646884	0.82[EUR][1000 genomes]
rs12232410	0.85[EUR][1000 genomes]
rs12446201	0.88[EUR][1000 genomes]
rs12447883	0.85[EUR][1000 genomes]
rs12595869	0.85[EUR][1000 genomes]
rs12596679	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12925371	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1437135	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1437136	0.81[EUR][1000 genomes]
rs16959025	0.81[EUR][1000 genomes]
rs16959035	0.86[EUR][1000 genomes]
rs1800566	0.87[EUR][1000 genomes]
rs1865965	0.85[EUR][1000 genomes]
rs2118220	0.82[EUR][1000 genomes]
rs2196574	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2217950	0.82[EUR][1000 genomes]
rs2361838	0.82[EUR][1000 genomes]
rs2361839	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3169315	0.82[EUR][1000 genomes]
rs3743673	0.87[EUR][1000 genomes]
rs3811349	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4078387	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4464069	0.91[EUR][1000 genomes]
rs4497676	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4580150	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4985518	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985523	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55701476	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55863174	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55992518	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56282083	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56316408	0.82[EUR][1000 genomes]
rs57488237	0.86[EUR][1000 genomes]
rs57518557	0.91[EUR][1000 genomes]
rs57565297	0.85[EUR][1000 genomes]
rs59295369	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60010276	0.80[EUR][1000 genomes]
rs60231938	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60472033	0.82[EUR][1000 genomes]
rs61426398	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499253	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6499255	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs689455	0.88[EUR][1000 genomes]
rs7186002	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7198242	0.82[EUR][1000 genomes]
rs73579458	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73579497	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74029403	0.85[EUR][1000 genomes]
rs8045142	0.82[EUR][1000 genomes]
rs8045682	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8046314	0.85[EUR][1000 genomes]
rs8047885	0.82[EUR][1000 genomes]
rs8052086	0.82[EUR][1000 genomes]
rs8053080	0.82[EUR][1000 genomes]
rs8054096	0.85[EUR][1000 genomes]
rs8059345	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8060588	0.82[EUR][1000 genomes]
rs9788837	0.82[EUR][1000 genomes]
rs9921045	0.87[EUR][1000 genomes]
rs9933526	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats 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	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7189424	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69761800-69787400	Weak transcription	Right Atrium	heart
2	chr16:69770400-69788000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:69771800-69786400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:69772600-69786400	Strong transcription	Fetal Stomach	stomach
5	chr16:69772800-69786400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:69773000-69783000	Strong transcription	HepG2	liver
7	chr16:69773000-69783400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:69773000-69783400	Strong transcription	Primary T cells from cord blood	blood
9	chr16:69773000-69785600	Strong transcription	Stomach Smooth Muscle	stomach
10	chr16:69773000-69786000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:69773000-69786000	Strong transcription	Thymus	Thymus
12	chr16:69773000-69786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:69773000-69786200	Strong transcription	Fetal Brain Female	brain
14	chr16:69773000-69786200	Strong transcription	Dnd41	blood
15	chr16:69773000-69786400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:69773000-69786600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:69773000-69786600	Strong transcription	Fetal Thymus	thymus
18	chr16:69773000-69786800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:69773000-69787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:69773000-69787000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:69773000-69787000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:69773000-69787000	Strong transcription	Fetal Muscle Leg	muscle
23	chr16:69773000-69787200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:69773200-69785200	Strong transcription	Spleen	Spleen
25	chr16:69773200-69785600	Strong transcription	Brain Germinal Matrix	brain
26	chr16:69773200-69785800	Strong transcription	Pancreas	Pancrea
27	chr16:69773200-69786000	Strong transcription	GM12878-XiMat	blood
28	chr16:69773200-69786800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:69773400-69785800	Strong transcription	Fetal Lung	lung
30	chr16:69773400-69786200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:69773600-69786400	Strong transcription	K562	blood
32	chr16:69773800-69785800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr16:69773800-69786000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:69773800-69786200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr16:69773800-69786200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:69773800-69786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:69773800-69786400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr16:69773800-69786600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:69773800-69786600	Strong transcription	HSMM	muscle
40	chr16:69773800-69786800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:69774000-69783400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr16:69774000-69785800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr16:69774000-69786200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr16:69774000-69786200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:69774000-69786200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr16:69774000-69786200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:69774000-69786600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr16:69774200-69783600	Strong transcription	NHLF	lung
49	chr16:69774200-69783800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:69774200-69785200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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