Variant report

Variant	rs6952529
Chromosome Location	chr7:124546643-124546644
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124546480..124548936-chr7:124561383..124564382,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10081226	0.82[AMR][1000 genomes]
rs10081265	0.82[AMR][1000 genomes]
rs10081266	0.82[AMR][1000 genomes]
rs10081290	0.82[AMR][1000 genomes]
rs10081375	0.82[AMR][1000 genomes]
rs10223980	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10224946	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10228682	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10229152	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10231355	0.82[AMR][1000 genomes]
rs10231491	0.81[AMR][1000 genomes]
rs10236403	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10243490	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10245872	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10252039	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10252072	0.82[AMR][1000 genomes]
rs10255209	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10255638	0.82[AMR][1000 genomes]
rs10272583	0.84[AMR][1000 genomes]
rs10272889	0.82[AMR][1000 genomes]
rs10279816	0.82[AMR][1000 genomes]
rs10280341	0.82[AMR][1000 genomes]
rs10954048	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10954049	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10954050	0.81[AMR][1000 genomes]
rs10954051	0.82[AMR][1000 genomes]
rs11769711	0.82[AMR][1000 genomes]
rs11981797	0.82[AMR][1000 genomes]
rs12111658	0.82[AMR][1000 genomes]
rs12111660	0.82[AMR][1000 genomes]
rs12530981	0.88[AMR][1000 genomes]
rs12533560	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12536017	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12536575	0.84[AMR][1000 genomes]
rs12537161	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12538083	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12538333	0.84[AMR][1000 genomes]
rs12540168	0.82[AMR][1000 genomes]
rs12706629	0.82[AMR][1000 genomes]
rs1383751	0.82[AMR][1000 genomes]
rs1481331	0.82[AMR][1000 genomes]
rs1481332	0.82[AMR][1000 genomes]
rs1481340	0.82[AMR][1000 genomes]
rs1481341	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1600743	0.82[AMR][1000 genomes]
rs1600745	0.82[AMR][1000 genomes]
rs1600746	0.82[AMR][1000 genomes]
rs1842615	0.82[AMR][1000 genomes]
rs1842616	0.82[AMR][1000 genomes]
rs1904975	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1994022	0.82[AMR][1000 genomes]
rs1994023	0.82[AMR][1000 genomes]
rs2054585	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2219954	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2402756	0.82[AMR][1000 genomes]
rs28409696	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35630355	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3919896	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4146110	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4279518	0.90[AMR][1000 genomes]
rs4283967	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4311608	0.88[AMR][1000 genomes]
rs4319000	0.86[AMR][1000 genomes]
rs4360235	0.90[AMR][1000 genomes]
rs4377885	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4379394	0.88[AMR][1000 genomes]
rs4383910	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4461840	0.82[AMR][1000 genomes]
rs4463363	0.84[AMR][1000 genomes]
rs4467880	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4501523	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4568548	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56321660	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6415362	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6466954	0.85[AMR][1000 genomes]
rs6466956	0.87[AMR][1000 genomes]
rs6466960	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6466961	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6466962	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6466963	0.82[AMR][1000 genomes]
rs6466964	0.82[AMR][1000 genomes]
rs6466965	0.82[AMR][1000 genomes]
rs6466966	0.82[AMR][1000 genomes]
rs6466967	0.83[AMR][1000 genomes]
rs6466968	0.82[AMR][1000 genomes]
rs6466969	0.82[AMR][1000 genomes]
rs6945104	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6948181	0.81[AMR][1000 genomes]
rs6948345	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6949341	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6956499	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6956638	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6959244	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6959491	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6959665	0.91[AMR][1000 genomes]
rs6960027	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6960139	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6960683	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6966415	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6967988	0.83[AMR][1000 genomes]
rs6968187	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6968573	0.81[AMR][1000 genomes]
rs6968693	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6973134	0.85[AMR][1000 genomes]
rs6973447	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6973812	0.84[AMR][1000 genomes]
rs6980448	0.83[AMR][1000 genomes]
rs7357296	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7456392	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7778544	0.90[AMR][1000 genomes]
rs7778956	0.84[AMR][1000 genomes]
rs7780392	0.82[AMR][1000 genomes]
rs7782354	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7782410	0.82[AMR][1000 genomes]
rs7782525	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7786384	0.82[AMR][1000 genomes]
rs7789859	0.88[AMR][1000 genomes]
rs7790975	0.81[AMR][1000 genomes]
rs7791399	0.81[AMR][1000 genomes]
rs7793441	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7794631	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7794710	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7795199	0.81[AMR][1000 genomes]
rs7795218	0.81[AMR][1000 genomes]
rs7795233	0.81[AMR][1000 genomes]
rs7795492	0.87[AMR][1000 genomes]
rs7795605	0.81[AMR][1000 genomes]
rs7795611	0.81[AMR][1000 genomes]
rs7796015	0.84[AMR][1000 genomes]
rs7796150	0.84[AMR][1000 genomes]
rs7799518	0.82[AMR][1000 genomes]
rs7799938	0.88[AMR][1000 genomes]
rs9332427	0.81[AMR][1000 genomes]
rs962863	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9886177	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1829082	chr7:124503189-124556473	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv2756137	chr7:124521049-124558049	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv525729	chr7:124538036-124549573	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6952529	RP11-3B12.1	cis	Artery Tibial	GTEx
rs6952529	RP11-3B12.1	cis	Artery Aorta	GTEx
rs6952529	RP11-3B12.4	cis	Artery Tibial	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
5	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
6	chr7:124522800-124568400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:124527600-124562200	Weak transcription	A549	lung
8	chr7:124527600-124569000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:124527600-124569000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:124528000-124567400	Weak transcription	HepG2	liver
11	chr7:124529800-124553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:124529800-124564400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:124530000-124569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:124531400-124559800	Weak transcription	Ovary	ovary
15	chr7:124532000-124569000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:124532600-124552400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:124532600-124562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:124532600-124568400	Weak transcription	NHDF-Ad	bronchial
19	chr7:124532600-124568800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:124532600-124569000	Weak transcription	HSMM	muscle
21	chr7:124532800-124557000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:124532800-124559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:124532800-124568400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:124532800-124569000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:124533200-124562800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:124534000-124550000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:124534600-124558400	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:124535000-124556800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:124535400-124551800	Weak transcription	K562	blood
30	chr7:124535600-124551800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:124535800-124552400	Weak transcription	Primary B cells from cord blood	blood
32	chr7:124535800-124563000	Weak transcription	Primary T cells from cord blood	blood
33	chr7:124537400-124553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:124537800-124566000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr7:124538000-124552800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:124538000-124552800	Weak transcription	Liver	Liver
37	chr7:124538000-124553200	Weak transcription	Fetal Lung	lung
38	chr7:124538000-124554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:124538000-124555000	Weak transcription	Dnd41	blood
40	chr7:124538000-124569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:124539400-124556800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:124541000-124553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:124541000-124568600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:124541000-124569000	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:124541200-124552800	Weak transcription	Left Ventricle	heart
46	chr7:124541400-124552400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:124541400-124552600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:124541400-124552600	Weak transcription	Adipose Nuclei	Adipose
49	chr7:124541400-124552800	Weak transcription	Fetal Thymus	thymus
50	chr7:124541400-124553200	Weak transcription	Primary monocytes fromperipheralblood	blood

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