Variant report

Variant	rs65685
Chromosome Location	chr6:119136759-119136760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12527198	1.00[ASN][1000 genomes]
rs12527201	1.00[ASN][1000 genomes]
rs1296440	0.91[ASN][1000 genomes]
rs1407204	1.00[CHB][hapmap]
rs2145568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs284921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429185	0.91[ASN][1000 genomes]
rs445573	1.00[ASN][1000 genomes]
rs6915914	1.00[CHB][hapmap]
rs706972	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7743694	1.00[CHB][hapmap]
rs7746114	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7766260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs794602	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs794609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs794610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs794613	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs794615	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9374745	1.00[JPT][hapmap]
rs9374750	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs9374758	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9385056	1.00[JPT][hapmap]
rs9385064	1.00[CHB][hapmap]
rs9401108	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs65685	FAM184A	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119122000-119147000	Weak transcription	Stomach Mucosa	stomach
2	chr6:119122200-119147000	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:119122400-119136800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:119122400-119146800	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:119122600-119144000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:119125600-119136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:119125600-119143600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:119126200-119138800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:119128600-119151600	Weak transcription	Colonic Mucosa	Colon
10	chr6:119130600-119146400	Weak transcription	Psoas Muscle	Psoas
11	chr6:119130800-119143000	Weak transcription	Fetal Lung	lung
12	chr6:119131000-119137000	Weak transcription	K562	blood
13	chr6:119132000-119137000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:119132200-119143000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:119132200-119143600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:119132200-119145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:119132200-119146400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:119132200-119150600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:119132400-119146800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:119132400-119150800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:119132600-119141600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:119133000-119137400	Strong transcription	Dnd41	blood
23	chr6:119133400-119148000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:119133400-119151800	Weak transcription	Fetal Kidney	kidney
25	chr6:119134000-119138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:119134000-119150600	Weak transcription	Hela-S3	cervix
27	chr6:119134200-119137000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:119134200-119143600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:119134200-119143600	Weak transcription	HUVEC	blood vessel
30	chr6:119134200-119144000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:119134400-119143600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:119134400-119146600	Weak transcription	Brain Anterior Caudate	brain
33	chr6:119134400-119146800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr6:119134400-119147000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:119134400-119147000	Weak transcription	Small Intestine	intestine
36	chr6:119135000-119138000	Strong transcription	Adipose Nuclei	Adipose
37	chr6:119135000-119138000	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:119135000-119146600	Weak transcription	GM12878-XiMat	blood
39	chr6:119135200-119137600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:119135200-119137600	Strong transcription	Primary B cells from cord blood	blood
41	chr6:119135200-119150600	Weak transcription	NHLF	lung
42	chr6:119135400-119137000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:119135400-119137000	Weak transcription	NHDF-Ad	bronchial
44	chr6:119135400-119146600	Weak transcription	HMEC	breast
45	chr6:119135400-119146600	Weak transcription	NHEK	skin
46	chr6:119135400-119146600	Weak transcription	Osteobl	bone
47	chr6:119135400-119149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:119135400-119150200	Weak transcription	Brain Substantia Nigra	brain
49	chr6:119135400-119151000	Weak transcription	NH-A	brain
50	chr6:119135400-119151400	Weak transcription	Muscle Satellite Cultured Cells	--

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