Variant report

Variant	rs385210
Chromosome Location	chr6:88044645-88044646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88044455..88046283-chr6:88047721..88049403,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1145713	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1145714	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1145715	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1145716	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11759727	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1188806	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1188816	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1188817	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1188818	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1188819	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203162	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1203163	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1203164	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12194354	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12211627	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13201289	0.81[EUR][1000 genomes]
rs1630494	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1739886	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1746444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1753152	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1753159	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs181491	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236048	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257153	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242264	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242265	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242266	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242268	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242269	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242277	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242282	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2983136	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs368267	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs374792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377288	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs379455	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381741	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs381798	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs382956	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs383692	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs384318	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3857486	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs392807	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs397516	0.92[ASN][1000 genomes]
rs398140	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3999791	0.81[EUR][1000 genomes]
rs406981	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs411606	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs413687	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs414453	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs452315	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4707355	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs490447	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540975	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs541170	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6908834	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6921673	0.87[ASN][1000 genomes]
rs6926686	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6932641	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6938885	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6939075	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs827433	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs910564	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs910565	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9294376	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9444486	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9444488	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9444490	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9444491	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9450636	0.81[EUR][1000 genomes]
rs9450637	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9450638	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9450639	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9450640	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9450646	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9450651	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9450653	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5386	chr6:88038551-88044921	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs385210	C6orf163	Cis_1M	lymphoblastoid	RTeQTL
rs385210	C6orf162	Cis_1M	lymphoblastoid	RTeQTL
rs385210	C6orf162	cis	multi-tissue	Pritchard
rs385210	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88033000-88049000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:88033000-88055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:88033200-88045200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:88033200-88045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:88033200-88048000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:88033200-88056400	Weak transcription	Liver	Liver
7	chr6:88033200-88062200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:88039000-88051400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:88039000-88068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:88039000-88078400	Weak transcription	Fetal Stomach	stomach
11	chr6:88039200-88046000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:88039400-88047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:88039400-88061200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:88039600-88046000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:88039800-88051000	Weak transcription	GM12878-XiMat	blood
16	chr6:88040200-88075800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:88040600-88116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:88040800-88052600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:88042400-88045000	Enhancers	K562	blood
20	chr6:88042400-88046400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:88042600-88044800	Enhancers	Left Ventricle	heart
22	chr6:88042800-88045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:88042800-88045000	Enhancers	Right Ventricle	heart
24	chr6:88042800-88045800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:88043000-88044800	Enhancers	Right Atrium	heart
26	chr6:88043000-88045200	Enhancers	NHLF	lung
27	chr6:88043200-88045000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr6:88043400-88044800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:88043400-88045400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:88043400-88045800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:88043600-88046000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:88043600-88058400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:88043800-88044800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:88043800-88045800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:88043800-88056400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:88043800-88056800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:88043800-88061400	Weak transcription	Gastric	stomach
38	chr6:88043800-88068400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:88044000-88045400	Strong transcription	Primary T cells from cord blood	blood
40	chr6:88044000-88052400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:88044000-88052600	Weak transcription	Thymus	Thymus
42	chr6:88044000-88053600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:88044000-88054000	Weak transcription	Dnd41	blood
44	chr6:88044000-88054200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:88044000-88056000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:88044000-88071400	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:88044200-88045000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:88044200-88051400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr6:88044400-88045000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:88044400-88045000	Enhancers	Skeletal Muscle Female	skeletal muscle

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