Variant report

Variant	rs376633
Chromosome Location	chr6:88042785-88042786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:88042679-88042978	H1-hESC	embryonic stem cell:	n/a	chr6:88042879-88042889
2	MAX	chr6:88042700-88043049	K562	blood:	n/a	chr6:88042879-88042889
3	USF1	chr6:88042705-88043076	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr6:88042667-88043081	H1-hESC	embryonic stem cell:	n/a	chr6:88042879-88042889
5	BHLHE40	chr6:88042733-88043021	K562	blood:	n/a	n/a
6	E2F6	chr6:88042623-88043051	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88040776..88043456-chr6:88056096..88058777,2	MCF-7	breast:
2	chr6:88041023..88043490-chr6:88050888..88053357,2	K562	blood:

Variant related genes	Relation type
GJB7	TF binding region
ENSG00000203872	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs107689	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs107690	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1080595	0.84[EUR][1000 genomes]
rs1080596	0.84[EUR][1000 genomes]
rs1201409	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12176253	0.87[ASN][1000 genomes]
rs12190280	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12207825	0.85[EUR][1000 genomes]
rs12664578	0.84[EUR][1000 genomes]
rs173333	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1753154	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1813847	0.84[EUR][1000 genomes]
rs1813848	0.84[EUR][1000 genomes]
rs183599	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1886751	0.84[EUR][1000 genomes]
rs1886752	0.84[EUR][1000 genomes]
rs1925688	0.84[EUR][1000 genomes]
rs1925695	0.84[EUR][1000 genomes]
rs1980790	0.84[EUR][1000 genomes]
rs1980792	0.84[EUR][1000 genomes]
rs1998765	0.83[EUR][1000 genomes]
rs2025630	0.84[EUR][1000 genomes]
rs2031518	0.83[EUR][1000 genomes]
rs2147919	0.83[EUR][1000 genomes]
rs2147920	0.84[EUR][1000 genomes]
rs2147921	0.84[EUR][1000 genomes]
rs2182181	0.83[EUR][1000 genomes]
rs2240459	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240460	0.85[ASN][1000 genomes]
rs242267	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242270	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242278	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242279	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242280	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242281	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242283	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs242285	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242286	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242287	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2474349	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2985039	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs367353	0.80[EUR][1000 genomes]
rs369674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734187	0.85[ASN][1000 genomes]
rs373646	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812130	0.87[ASN][1000 genomes]
rs3812132	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs381782	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3846773	0.84[ASN][1000 genomes]
rs3846774	0.84[ASN][1000 genomes]
rs3846775	0.84[ASN][1000 genomes]
rs3846776	0.84[ASN][1000 genomes]
rs3857485	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3857488	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs390272	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3903920	0.85[EUR][1000 genomes]
rs3904088	0.85[EUR][1000 genomes]
rs395358	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4110984	0.85[EUR][1000 genomes]
rs4110985	0.85[EUR][1000 genomes]
rs4269346	0.83[EUR][1000 genomes]
rs445434	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs446851	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs447077	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs448580	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4489129	0.83[EUR][1000 genomes]
rs451089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451465	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4540237	0.82[EUR][1000 genomes]
rs4591818	0.84[ASN][1000 genomes]
rs4605853	0.84[EUR][1000 genomes]
rs4706289	0.84[EUR][1000 genomes]
rs4707346	0.84[EUR][1000 genomes]
rs4707347	0.85[EUR][1000 genomes]
rs4707351	0.84[EUR][1000 genomes]
rs4707352	0.84[EUR][1000 genomes]
rs4707356	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4707357	0.87[ASN][1000 genomes]
rs4707358	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs499373	0.85[EUR][1000 genomes]
rs586771	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6454584	0.83[EUR][1000 genomes]
rs6454587	0.83[EUR][1000 genomes]
rs6454588	0.83[EUR][1000 genomes]
rs6454591	0.84[EUR][1000 genomes]
rs6454592	0.84[EUR][1000 genomes]
rs6454594	0.84[EUR][1000 genomes]
rs6454595	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6454596	0.87[ASN][1000 genomes]
rs6454597	0.86[ASN][1000 genomes]
rs6454598	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6454599	0.86[ASN][1000 genomes]
rs6454600	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6899394	0.87[ASN][1000 genomes]
rs6903219	0.85[EUR][1000 genomes]
rs6904310	0.84[EUR][1000 genomes]
rs6909021	0.84[EUR][1000 genomes]
rs6909200	0.84[EUR][1000 genomes]
rs6910991	0.84[ASN][1000 genomes]
rs6913721	0.84[EUR][1000 genomes]
rs6914193	0.85[EUR][1000 genomes]
rs6916994	0.87[ASN][1000 genomes]
rs6917432	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6921007	0.87[ASN][1000 genomes]
rs6921504	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6921619	0.84[EUR][1000 genomes]
rs6925648	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6926831	0.87[EUR][1000 genomes]
rs6932678	0.84[ASN][1000 genomes]
rs6934603	0.87[ASN][1000 genomes]
rs6937874	0.87[ASN][1000 genomes]
rs6940544	0.87[ASN][1000 genomes]
rs7453986	0.87[ASN][1000 genomes]
rs7739034	0.84[EUR][1000 genomes]
rs7739726	0.84[EUR][1000 genomes]
rs7742478	0.84[EUR][1000 genomes]
rs7746545	0.85[EUR][1000 genomes]
rs7747129	0.84[EUR][1000 genomes]
rs7748191	0.83[EUR][1000 genomes]
rs7748879	0.80[EUR][1000 genomes]
rs7751029	0.83[EUR][1000 genomes]
rs7752485	0.85[EUR][1000 genomes]
rs7752882	0.85[EUR][1000 genomes]
rs7753030	0.87[ASN][1000 genomes]
rs7755244	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7757199	0.84[EUR][1000 genomes]
rs7757827	0.82[EUR][1000 genomes]
rs7758618	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7763365	0.84[EUR][1000 genomes]
rs7766324	0.84[EUR][1000 genomes]
rs7767449	0.84[EUR][1000 genomes]
rs7768575	0.84[EUR][1000 genomes]
rs7776407	0.84[EUR][1000 genomes]
rs910563	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9294367	0.84[EUR][1000 genomes]
rs9294370	0.83[EUR][1000 genomes]
rs9294371	0.81[EUR][1000 genomes]
rs9294372	0.84[EUR][1000 genomes]
rs9344690	0.84[EUR][1000 genomes]
rs9344693	0.87[EUR][1000 genomes]
rs9344695	0.84[ASN][1000 genomes]
rs9344696	0.87[ASN][1000 genomes]
rs9344697	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9351117	0.84[EUR][1000 genomes]
rs9351124	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9353462	0.84[EUR][1000 genomes]
rs9353463	0.84[EUR][1000 genomes]
rs9353464	0.85[EUR][1000 genomes]
rs9353465	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9353468	0.86[ASN][1000 genomes]
rs9353473	0.87[ASN][1000 genomes]
rs9353483	0.85[EUR][1000 genomes]
rs9359743	0.87[ASN][1000 genomes]
rs9359748	0.85[EUR][1000 genomes]
rs9362398	0.83[EUR][1000 genomes]
rs9362401	0.81[EUR][1000 genomes]
rs9362408	0.84[EUR][1000 genomes]
rs9362415	0.86[ASN][1000 genomes]
rs9362417	0.86[ASN][1000 genomes]
rs9362427	0.84[EUR][1000 genomes]
rs9444479	0.84[EUR][1000 genomes]
rs9450634	0.83[EUR][1000 genomes]
rs9450647	0.87[ASN][1000 genomes]
rs9450650	0.87[ASN][1000 genomes]
rs9450652	0.87[ASN][1000 genomes]
rs994170	0.84[EUR][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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs376633	SLC35A1	cis	multi-tissue	Pritchard
rs376633	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs376633	C6orf164	cis	Whole Blood	GTEx
rs376633	C6orf164	cis	Skin Sun Exposed Lower leg	GTEx
rs376633	C6orf164	cis	Artery Tibial	GTEx
rs376633	C6orf162	Cis_1M	lymphoblastoid	RTeQTL
rs376633	C6orf164	cis	Thyroid	GTEx
rs376633	C6orf163	Cis_1M	lymphoblastoid	RTeQTL
rs376633	C6orf164	cis	Esophagus Muscularis	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88033000-88043600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:88033000-88043600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:88033000-88043600	Weak transcription	Spleen	Spleen
4	chr6:88033000-88049000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:88033000-88055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:88033200-88042800	Weak transcription	Fetal Thymus	thymus
7	chr6:88033200-88043000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:88033200-88043400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:88033200-88043600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:88033200-88043600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:88033200-88043600	Weak transcription	Pancreas	Pancrea
12	chr6:88033200-88045200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:88033200-88045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:88033200-88048000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:88033200-88056400	Weak transcription	Liver	Liver
16	chr6:88033200-88062200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:88035800-88043400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:88039000-88042800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:88039000-88042800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:88039000-88044200	Weak transcription	Hela-S3	cervix
21	chr6:88039000-88051400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:88039000-88068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:88039000-88078400	Weak transcription	Fetal Stomach	stomach
24	chr6:88039200-88042800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:88039200-88046000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:88039400-88042800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:88039400-88047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:88039400-88061200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:88039600-88046000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:88039800-88044400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:88039800-88051000	Weak transcription	GM12878-XiMat	blood
32	chr6:88040200-88075800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:88040600-88116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:88040800-88043200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:88040800-88052600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:88041000-88043400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:88041000-88044400	Weak transcription	Primary B cells from cord blood	blood
38	chr6:88041400-88043000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:88042400-88042800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:88042400-88043400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:88042400-88043400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:88042400-88043600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr6:88042400-88045000	Enhancers	K562	blood
44	chr6:88042400-88046400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:88042600-88043000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:88042600-88043200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:88042600-88043400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:88042600-88043400	Enhancers	Fetal Heart	heart
49	chr6:88042600-88044800	Enhancers	Left Ventricle	heart

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