Variant report

Variant	rs912815
Chromosome Location	chr6:87871344-87871345
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:87870650..87873395-chr6:87879332..87881977,2	MCF-7	breast:
2	chr6:87865317..87867373-chr6:87870265..87871940,3	K562	blood:
3	chr6:87863454..87865294-chr6:87869676..87871919,2	K562	blood:
4	chr6:87870688..87872534-chr6:87888705..87890644,2	K562	blood:
5	chr6:87862537..87867445-chr6:87868092..87873606,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272008	Chromatin interaction
ENSG00000188994	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1145713	0.80[EUR][1000 genomes]
rs1145714	0.80[EUR][1000 genomes]
rs1145715	0.80[EUR][1000 genomes]
rs11759727	0.83[EUR][1000 genomes]
rs1203162	0.80[EUR][1000 genomes]
rs13201289	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13210074	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16878497	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1925686	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2025490	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs368267	0.80[EUR][1000 genomes]
rs382956	0.81[EUR][1000 genomes]
rs384318	0.80[EUR][1000 genomes]
rs3857486	0.86[EUR][1000 genomes]
rs3999791	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs411606	0.80[EUR][1000 genomes]
rs413687	0.80[EUR][1000 genomes]
rs414453	0.80[EUR][1000 genomes]
rs4235830	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4707344	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4707345	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4707355	0.87[EUR][1000 genomes]
rs6908834	0.85[EUR][1000 genomes]
rs6913159	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6926686	0.83[EUR][1000 genomes]
rs6932641	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6938885	0.83[EUR][1000 genomes]
rs6939075	0.83[EUR][1000 genomes]
rs6940325	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7752414	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7757330	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7758360	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7767245	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9294375	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9294376	0.83[EUR][1000 genomes]
rs9444476	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9444481	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9444486	0.86[EUR][1000 genomes]
rs9444488	0.87[EUR][1000 genomes]
rs9444490	0.86[EUR][1000 genomes]
rs9444491	0.84[EUR][1000 genomes]
rs9450619	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9450623	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450630	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450636	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9450637	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9450638	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9450639	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9450640	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9450646	0.86[EUR][1000 genomes]
rs9450651	0.84[EUR][1000 genomes]
rs9450653	0.83[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs912815	C6orf162	cis	multi-tissue	Pritchard
rs912815	C6orf163	Cis_1M	lymphoblastoid	RTeQTL
rs912815	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs912815	C6orf162	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87866600-87873800	Weak transcription	Psoas Muscle	Psoas
2	chr6:87866600-87877000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:87866600-87878200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:87866600-87879000	Weak transcription	Esophagus	oesophagus
5	chr6:87866600-87880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:87866600-87883600	Weak transcription	Right Ventricle	heart
7	chr6:87866600-87883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:87866600-87885400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr6:87866600-87886000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:87866600-87886600	Weak transcription	Aorta	Aorta
11	chr6:87866600-87889800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:87866600-87890000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:87866600-87890200	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:87866800-87873200	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:87866800-87873200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:87866800-87873400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:87866800-87873600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:87866800-87873600	Weak transcription	Stomach Mucosa	stomach
19	chr6:87866800-87875800	Weak transcription	A549	lung
20	chr6:87866800-87876200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:87867000-87873400	Weak transcription	NHDF-Ad	bronchial
22	chr6:87867000-87873600	Weak transcription	Fetal Lung	lung
23	chr6:87867000-87873800	Weak transcription	Right Atrium	heart
24	chr6:87867000-87874000	Weak transcription	Fetal Kidney	kidney
25	chr6:87867000-87875800	Weak transcription	Osteobl	bone
26	chr6:87867000-87876000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:87867000-87876200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:87867000-87876800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:87867000-87883400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:87867000-87886000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:87867000-87895600	Weak transcription	HSMM	muscle
32	chr6:87867000-87915600	Weak transcription	NH-A	brain
33	chr6:87867200-87876200	Weak transcription	NHEK	skin
34	chr6:87867200-87883200	Weak transcription	HMEC	breast
35	chr6:87867200-87893400	Weak transcription	Adipose Nuclei	Adipose
36	chr6:87867400-87873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:87867400-87874800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:87867400-87876200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:87867400-87880800	Weak transcription	Liver	Liver
40	chr6:87867400-87881400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:87867600-87871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:87867600-87873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:87867600-87873800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:87867800-87873600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:87867800-87873800	Weak transcription	K562	blood
46	chr6:87867800-87876000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:87867800-87877400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:87867800-87879400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:87867800-87881000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:87867800-87883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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