Variant report

Variant	rs2814977
Chromosome Location	chr6:34576433-34576434
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34521962..34524801-chr6:34573596..34577292,4	MCF-7	breast:
2	chr6:34570143..34573485-chr6:34575901..34578410,4	K562	blood:
3	chr6:34389543..34392332-chr6:34575346..34578264,2	K562	blood:
4	chr6:34391994..34393881-chr6:34573561..34576511,2	MCF-7	breast:
5	chr6:34382616..34385085-chr6:34576008..34577878,2	K562	blood:
6	chr6:34496704..34498115-chr6:34576145..34578099,12	MCF-7	breast:
7	chr6:34528717..34530463-chr6:34574776..34577421,2	K562	blood:
8	chr6:34389543..34394732-chr6:34574811..34579307,4	K562	blood:
9	chr6:34360143..34362541-chr6:34575968..34579068,3	K562	blood:
10	chr6:34512842..34514603-chr6:34573896..34576620,2	MCF-7	breast:
11	chr6:34208449..34211320-chr6:34575823..34577812,2	K562	blood:
12	chr6:34559418..34564619-chr6:34574111..34579705,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270800	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000124664	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11752260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092344	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2492859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2492863	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744938	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2744939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744942	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744947	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744954	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744955	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744956	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744965	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744972	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744977	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814943	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814944	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2814948	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2814973	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814986	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814994	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814996	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815005	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800457	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800461	1.00[ASN][1000 genomes]
rs56930444	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907508	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938239	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv823667	chr6:34533015-34592524	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv818410	chr6:34538544-34579431	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2814977	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2814977	C6orf106	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34554600-34577200	Weak transcription	HUVEC	blood vessel
2	chr6:34556200-34612200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:34557400-34612400	Weak transcription	Fetal Kidney	kidney
4	chr6:34558400-34577200	Weak transcription	Hela-S3	cervix
5	chr6:34560400-34578600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:34562600-34585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:34563800-34579000	Weak transcription	HMEC	breast
8	chr6:34564000-34578000	Weak transcription	NHDF-Ad	bronchial
9	chr6:34567000-34612200	Weak transcription	Fetal Lung	lung
10	chr6:34567800-34612400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:34569400-34583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:34570400-34612600	Weak transcription	Brain Anterior Caudate	brain
13	chr6:34570600-34583600	Weak transcription	HSMMtube	muscle
14	chr6:34570600-34610000	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:34570800-34576600	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:34570800-34578000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:34570800-34578600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:34570800-34579000	Weak transcription	HSMM	muscle
19	chr6:34570800-34579200	Weak transcription	NH-A	brain
20	chr6:34570800-34581800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:34570800-34582000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:34570800-34584600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:34570800-34587000	Weak transcription	Brain Substantia Nigra	brain
24	chr6:34570800-34618800	Weak transcription	Brain Angular Gyrus	brain
25	chr6:34571000-34576600	Weak transcription	Fetal Heart	heart
26	chr6:34571000-34578600	Weak transcription	Psoas Muscle	Psoas
27	chr6:34571000-34578600	Weak transcription	Right Atrium	heart
28	chr6:34571000-34585200	Weak transcription	Right Ventricle	heart
29	chr6:34571000-34621400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:34571000-34624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:34571400-34578600	Weak transcription	Pancreas	Pancrea
32	chr6:34572000-34578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:34572400-34577200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:34572400-34578000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:34572400-34612600	Weak transcription	Aorta	Aorta
36	chr6:34573200-34576600	Strong transcription	NHEK	skin
37	chr6:34573400-34576800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:34573800-34607200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:34574400-34577000	Weak transcription	Colonic Mucosa	Colon
40	chr6:34574400-34584200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:34574400-34612400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:34574400-34623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr6:34574600-34577200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:34574600-34577200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:34574600-34577800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:34574600-34578400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:34574600-34579800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:34574600-34579800	Weak transcription	Left Ventricle	heart
49	chr6:34574600-34581600	Weak transcription	Fetal Intestine Large	intestine
50	chr6:34574600-34583400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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