Variant report

Variant	rs9294374
Chromosome Location	chr6:87874575-87874576
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:87863690..87865289-chr6:87872093..87875043,3	K562	blood:
2	chr6:87861994..87868573-chr6:87872093..87877360,8	K562	blood:

Variant related genes	Relation type
ENSG00000188994	Chromatin interaction
ENSG00000272008	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs1080595	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1080596	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12176253	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12664578	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1813847	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1813848	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1886751	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1886752	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1925688	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1925689	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1925695	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1980790	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1980791	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1980792	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1998765	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2025630	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2031518	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2031519	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2147917	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2147918	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2147919	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2147920	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2147921	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182181	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240460	0.82[EUR][1000 genomes]
rs35788380	0.86[EUR][1000 genomes]
rs3734187	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3812130	0.86[EUR][1000 genomes]
rs3846773	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3846774	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3846775	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3846776	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3857483	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3857484	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3903920	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3904088	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4099964	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4110984	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4110985	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4269346	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4489129	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4533962	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4540237	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4574603	0.87[EUR][1000 genomes]
rs4591818	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4605853	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4706289	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4707346	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4707347	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4707348	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4707351	0.84[ASN][1000 genomes]
rs4707352	0.84[ASN][1000 genomes]
rs4707357	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62439492	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62439493	0.82[ASN][1000 genomes]
rs6454583	0.82[ASN][1000 genomes]
rs6454584	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6454587	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6454588	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6454589	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6454590	0.86[ASN][1000 genomes]
rs6454591	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6454592	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6454593	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6454594	0.84[ASN][1000 genomes]
rs6454596	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6454597	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6454599	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6899394	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6904310	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6907805	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6909021	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6909200	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6910991	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6913721	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6913932	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6914193	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6916994	0.86[EUR][1000 genomes]
rs6921007	0.86[EUR][1000 genomes]
rs6921619	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6926563	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6926831	0.82[ASN][1000 genomes]
rs6926838	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6927748	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6929920	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6932678	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6933046	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6934603	0.86[EUR][1000 genomes]
rs6934717	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6937874	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6940544	0.85[EUR][1000 genomes]
rs7453986	0.86[EUR][1000 genomes]
rs7739034	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7739726	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7742478	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7742710	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7748191	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7748879	0.86[ASN][1000 genomes]
rs7751029	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7752485	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7752882	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7753030	0.86[EUR][1000 genomes]
rs7755883	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7757199	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7757827	0.87[ASN][1000 genomes]
rs7763365	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7766324	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7767449	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7768575	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7774080	0.87[EUR][1000 genomes]
rs7774603	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7776407	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9294367	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9294370	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9294371	0.87[ASN][1000 genomes]
rs9294372	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9294373	0.81[ASN][1000 genomes]
rs9344677	0.87[ASN][1000 genomes]
rs9344690	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9344691	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9344693	0.82[ASN][1000 genomes]
rs9344695	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9344696	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9351114	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9351117	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9353455	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9353456	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9353462	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9353463	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9353464	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9353466	0.84[EUR][1000 genomes]
rs9353468	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9353473	0.86[EUR][1000 genomes]
rs9359734	0.86[EUR][1000 genomes]
rs9359736	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9359743	0.86[EUR][1000 genomes]
rs9362398	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9362400	0.82[ASN][1000 genomes]
rs9362401	0.89[ASN][1000 genomes]
rs9362408	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9362411	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9362413	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9362415	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9362417	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9444479	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9450634	0.84[ASN][1000 genomes]
rs9450647	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9450650	0.86[EUR][1000 genomes]
rs9450652	0.85[EUR][1000 genomes]
rs959038	0.82[ASN][1000 genomes]
rs994170	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024751	chr6:87433199-87908721	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv604114	chr6:87816905-87906053	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758067	chr6:87817883-87992957	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759453	chr6:87817883-87992957	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9294374	C6orf162	Cis_1M	lymphoblastoid	RTeQTL
rs9294374	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs9294374	C6orf163	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87866600-87877000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:87866600-87878200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:87866600-87879000	Weak transcription	Esophagus	oesophagus
4	chr6:87866600-87880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:87866600-87883600	Weak transcription	Right Ventricle	heart
6	chr6:87866600-87883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:87866600-87885400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr6:87866600-87886000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:87866600-87886600	Weak transcription	Aorta	Aorta
10	chr6:87866600-87889800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:87866600-87890000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:87866600-87890200	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:87866800-87875800	Weak transcription	A549	lung
14	chr6:87866800-87876200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:87867000-87875800	Weak transcription	Osteobl	bone
16	chr6:87867000-87876000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:87867000-87876200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:87867000-87876800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:87867000-87883400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:87867000-87886000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:87867000-87895600	Weak transcription	HSMM	muscle
22	chr6:87867000-87915600	Weak transcription	NH-A	brain
23	chr6:87867200-87876200	Weak transcription	NHEK	skin
24	chr6:87867200-87883200	Weak transcription	HMEC	breast
25	chr6:87867200-87893400	Weak transcription	Adipose Nuclei	Adipose
26	chr6:87867400-87874800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:87867400-87876200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:87867400-87880800	Weak transcription	Liver	Liver
29	chr6:87867400-87881400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:87867800-87876000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:87867800-87877400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:87867800-87879400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:87867800-87881000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:87867800-87883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:87867800-87883400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:87867800-87885800	Weak transcription	Fetal Thymus	thymus
37	chr6:87867800-87886400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:87868000-87933000	Weak transcription	Hela-S3	cervix
39	chr6:87868200-87877600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr6:87868200-87886000	Weak transcription	Thymus	Thymus
41	chr6:87868200-87889600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:87868400-87878800	Weak transcription	Lung	lung
43	chr6:87868400-87879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:87868400-87879400	Weak transcription	Fetal Stomach	stomach
45	chr6:87868400-87880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:87868400-87883600	Weak transcription	Small Intestine	intestine
47	chr6:87868600-87889800	Weak transcription	Fetal Intestine Large	intestine
48	chr6:87868800-87878000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr6:87868800-87881400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:87869000-87882800	Weak transcription	Primary B cells from cord blood	blood

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