Variant report

Variant	rs2210683
Chromosome Location	chr6:150167871-150167872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150166972..150170448-chr6:150175876..150178840,3	K562	blood:
2	chr6:150166079..150172408-chr6:150181587..150186360,13	MCF-7	breast:
3	chr6:150164239..150168667-chr6:150168889..150173398,4	K562	blood:
4	chr6:150166110..150169897-chr6:150177295..150181208,4	MCF-7	breast:
5	chr6:150167839..150171816-chr6:150186693..150189063,3	K562	blood:
6	chr6:150160714..150164051-chr6:150166023..150170073,4	MCF-7	breast:
7	chr6:150166050..150170337-chr6:150173456..150176763,5	MCF-7	breast:
8	chr6:150164423..150166949-chr6:150167300..150169014,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268592	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000273132	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10214845	0.83[EUR][1000 genomes]
rs10452626	0.83[EUR][1000 genomes]
rs10457850	0.83[EUR][1000 genomes]
rs10457851	0.83[EUR][1000 genomes]
rs10872651	0.81[EUR][1000 genomes]
rs10872652	0.83[EUR][1000 genomes]
rs10872653	0.82[EUR][1000 genomes]
rs10872656	0.87[EUR][1000 genomes]
rs1108889	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1112729	0.83[EUR][1000 genomes]
rs1112730	0.83[EUR][1000 genomes]
rs11155683	0.83[EUR][1000 genomes]
rs11155685	0.84[EUR][1000 genomes]
rs11155689	0.88[EUR][1000 genomes]
rs11968921	0.85[EUR][1000 genomes]
rs12175575	0.82[EUR][1000 genomes]
rs12176034	0.81[EUR][1000 genomes]
rs12179031	0.83[EUR][1000 genomes]
rs12182220	0.86[EUR][1000 genomes]
rs12210605	0.86[EUR][1000 genomes]
rs12213779	0.83[EUR][1000 genomes]
rs12525871	0.83[EUR][1000 genomes]
rs13215691	0.86[EUR][1000 genomes]
rs1413654	0.83[EUR][1000 genomes]
rs1413655	0.89[EUR][1000 genomes]
rs17672976	0.83[EUR][1000 genomes]
rs17673294	0.88[EUR][1000 genomes]
rs1889473	0.89[EUR][1000 genomes]
rs1984111	0.89[EUR][1000 genomes]
rs2095375	0.88[EUR][1000 genomes]
rs2151912	0.89[EUR][1000 genomes]
rs2151913	0.88[EUR][1000 genomes]
rs2184369	0.84[EUR][1000 genomes]
rs2184370	0.86[EUR][1000 genomes]
rs2275045	0.86[EUR][1000 genomes]
rs2275046	0.89[EUR][1000 genomes]
rs2342764	0.86[EUR][1000 genomes]
rs2342765	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2342857	0.88[EUR][1000 genomes]
rs2342858	0.88[EUR][1000 genomes]
rs2342860	0.84[EUR][1000 genomes]
rs2342861	0.84[EUR][1000 genomes]
rs2880435	0.83[EUR][1000 genomes]
rs2880436	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763162	0.88[EUR][1000 genomes]
rs3763163	0.88[EUR][1000 genomes]
rs3805748	0.82[EUR][1000 genomes]
rs3805750	0.86[EUR][1000 genomes]
rs3805751	0.86[EUR][1000 genomes]
rs3805752	0.84[EUR][1000 genomes]
rs3805753	0.86[EUR][1000 genomes]
rs3828700	0.86[EUR][1000 genomes]
rs4242279	0.86[EUR][1000 genomes]
rs4552	0.88[EUR][1000 genomes]
rs4642491	0.82[EUR][1000 genomes]
rs4816	0.86[EUR][1000 genomes]
rs4869730	0.88[EUR][1000 genomes]
rs4869731	0.88[EUR][1000 genomes]
rs4869750	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869966	0.83[EUR][1000 genomes]
rs4870015	0.87[EUR][1000 genomes]
rs4870019	0.88[EUR][1000 genomes]
rs4870020	0.87[EUR][1000 genomes]
rs4870048	0.89[EUR][1000 genomes]
rs4870049	0.86[EUR][1000 genomes]
rs4870050	0.85[EUR][1000 genomes]
rs4870052	0.86[EUR][1000 genomes]
rs4870054	0.89[EUR][1000 genomes]
rs4870055	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763431	0.84[EUR][1000 genomes]
rs56103941	0.86[EUR][1000 genomes]
rs56374774	0.84[EUR][1000 genomes]
rs62441303	0.83[EUR][1000 genomes]
rs62441335	0.86[EUR][1000 genomes]
rs6420132	0.89[EUR][1000 genomes]
rs6899661	0.88[EUR][1000 genomes]
rs6903998	0.89[EUR][1000 genomes]
rs6914319	0.88[EUR][1000 genomes]
rs6936395	0.88[EUR][1000 genomes]
rs7738696	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7740784	0.86[EUR][1000 genomes]
rs7743823	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7744015	0.84[EUR][1000 genomes]
rs7744105	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7745915	0.89[EUR][1000 genomes]
rs7752089	0.86[EUR][1000 genomes]
rs7764846	0.89[EUR][1000 genomes]
rs7769115	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7818	0.88[EUR][1000 genomes]
rs868375	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs880245	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs880246	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9285525	0.87[EUR][1000 genomes]
rs9322218	0.83[EUR][1000 genomes]
rs9322219	0.84[EUR][1000 genomes]
rs9322220	0.83[EUR][1000 genomes]
rs9322221	0.82[EUR][1000 genomes]
rs9322223	0.87[EUR][1000 genomes]
rs9322224	0.89[EUR][1000 genomes]
rs933055	0.88[EUR][1000 genomes]
rs9371199	0.86[EUR][1000 genomes]
rs9371201	0.81[EUR][1000 genomes]
rs9371207	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9371486	0.82[EUR][1000 genomes]
rs9372044	0.84[EUR][1000 genomes]
rs9383546	0.89[EUR][1000 genomes]
rs9383843	0.82[EUR][1000 genomes]
rs9383864	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9383865	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9383874	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9397022	0.88[EUR][1000 genomes]
rs9397036	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9397357	0.88[EUR][1000 genomes]
rs9478848	0.89[EUR][1000 genomes]
rs9505972	0.81[EUR][1000 genomes]
rs9505974	0.83[EUR][1000 genomes]
rs9505975	0.80[EUR][1000 genomes]
rs952165	0.87[EUR][1000 genomes]
rs952166	0.87[EUR][1000 genomes]
rs958953	0.80[EUR][1000 genomes]
rs9688412	0.87[EUR][1000 genomes]
rs9688803	0.85[EUR][1000 genomes]
rs9688809	0.86[EUR][1000 genomes]
rs9688867	0.82[EUR][1000 genomes]
rs9688897	0.85[EUR][1000 genomes]
rs9688902	0.85[EUR][1000 genomes]
rs9688938	0.86[EUR][1000 genomes]
rs9688940	0.86[EUR][1000 genomes]
rs9689025	0.85[EUR][1000 genomes]
rs9689036	0.83[EUR][1000 genomes]
rs9689242	0.86[EUR][1000 genomes]
rs9689269	0.86[EUR][1000 genomes]
rs9689447	0.87[EUR][1000 genomes]
rs9689694	0.81[EUR][1000 genomes]
rs9765929	0.83[EUR][1000 genomes]
rs9765965	0.82[EUR][1000 genomes]
rs9766214	0.82[EUR][1000 genomes]
rs9766444	0.82[EUR][1000 genomes]
rs9766525	0.83[EUR][1000 genomes]
rs9766562	0.85[EUR][1000 genomes]
rs9767077	0.85[EUR][1000 genomes]
rs9767122	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv886763	chr6:150091219-150174507	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv1793743	chr6:150167398-150170444	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs2210683	RP11-350J20.5	cis	Esophagus Mucosa	GTEx
rs2210683	GINM1	cis	Nerve Tibial	GTEx
rs2210683	RP11-350J20.5	cis	lung	GTEx
rs2210683	RP11-350J20.5	cis	Thyroid	GTEx
rs2210683	RP11-350J20.5	cis	Adipose Subcutaneous	GTEx
rs2210683	RP11-350J20.5	cis	Skin Sun Exposed Lower leg	GTEx
rs2210683	RP11-350J20.5	cis	Esophagus Muscularis	GTEx
rs2210683	LRP11	cis	Skin Sun Exposed Lower leg	GTEx
rs2210683	C6orf72	Cis_1M	lymphoblastoid	RTeQTL
rs2210683	NUP43	cis	Whole Blood	GTEx
rs2210683	GINM1	cis	Whole Blood	GTEx
rs2210683	RP11-350J20.5	cis	Artery Tibial	GTEx
rs2210683	NUP43	Cis_1M	lymphoblastoid	RTeQTL
rs2210683	RP11-350J20.5	cis	Nerve Tibial	GTEx
rs2210683	RP11-350J20.9	cis	Esophagus Mucosa	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150073800-150182400	Weak transcription	Fetal Brain Male	brain
2	chr6:150105800-150176400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:150152800-150172600	Weak transcription	Aorta	Aorta
4	chr6:150155800-150182600	Weak transcription	Dnd41	blood
5	chr6:150156400-150168400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:150158800-150176400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:150159200-150172800	Weak transcription	Spleen	Spleen
8	chr6:150161400-150168200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:150162200-150168400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:150162200-150175800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:150162600-150168200	Weak transcription	Brain Substantia Nigra	brain
12	chr6:150162600-150168200	Weak transcription	Fetal Intestine Large	intestine
13	chr6:150162600-150172000	Weak transcription	Liver	Liver
14	chr6:150162600-150177200	Weak transcription	Fetal Lung	lung
15	chr6:150163400-150169200	Enhancers	Placenta	Placenta
16	chr6:150163600-150175800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:150164200-150168200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:150164200-150171800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:150164400-150168400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:150164400-150169000	Weak transcription	Ovary	ovary
21	chr6:150164400-150181800	Weak transcription	Brain Germinal Matrix	brain
22	chr6:150164600-150169600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:150164800-150168200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:150164800-150168200	Enhancers	NH-A	brain
25	chr6:150164800-150169400	Enhancers	HMEC	breast
26	chr6:150165000-150181800	Weak transcription	Fetal Brain Female	brain
27	chr6:150165400-150168600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:150165400-150168800	Enhancers	Stomach Smooth Muscle	stomach
29	chr6:150166000-150169200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:150166000-150169400	Enhancers	Brain Angular Gyrus	brain
31	chr6:150166200-150169200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:150166200-150169400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:150166400-150168800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:150166400-150169600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:150166600-150168800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:150167000-150168200	Enhancers	HSMM	muscle
37	chr6:150167000-150168600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:150167000-150168600	Enhancers	Esophagus	oesophagus
39	chr6:150167000-150168600	Enhancers	Fetal Muscle Trunk	muscle
40	chr6:150167000-150168600	Enhancers	Left Ventricle	heart
41	chr6:150167000-150169000	Enhancers	Fetal Muscle Leg	muscle
42	chr6:150167000-150169200	Enhancers	Brain Anterior Caudate	brain
43	chr6:150167000-150169200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:150167000-150169200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:150167000-150169200	Enhancers	Fetal Heart	heart
46	chr6:150167000-150169400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:150167000-150169400	Enhancers	HSMMtube	muscle
48	chr6:150167000-150169400	Enhancers	NHDF-Ad	bronchial
49	chr6:150167000-150170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:150167200-150168600	Enhancers	Pancreas	Pancrea

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