Variant report

Variant	rs1417356
Chromosome Location	chr6:106957120-106957121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:106956826-106957360	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr6:106956709-106957159	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:106956711-106957154	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr6:106956819-106957123	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:106957081-106957131	HCPEpiC	choroid plexus:	n/a
2	chr6:106957081-106957131	SAEC	small airway:	n/a
3	chr6:106957081-106957131	Jurkat	blood:	n/a
4	chr6:106957081-106957131	MCF-7	breast:	n/a
5	chr6:106957081-106957131	HAEpiC	amniotic membrane:	n/a
6	chr6:106957081-106957131	HUVEC	blood vessel:	n/a
7	chr6:106957081-106957131	GM12891	blood:	n/a
8	chr6:106957081-106957131	SK-N-SH	brain:	n/a
9	chr6:106957081-106957131	HCM	heart:	n/a
10	chr6:106957081-106957131	HPAEpiC	pulmonary alveolar:	n/a
11	chr6:106957081-106957131	GM12892	blood:	n/a
12	chr6:106957081-106957131	NHBE	bronchial:	n/a
13	chr6:106957081-106957131	HEEpiC	esophagus:	n/a
14	chr6:106957081-106957131	AG10803	skin:	n/a
15	chr6:106957081-106957131	HRPEpiC	eye:	n/a
16	chr6:106957081-106957131	HEK293	kidney:	embryo
17	chr6:106957081-106957131	BE2_C	brain:	n/a
18	chr6:106957081-106957131	PFSK-1	brain:	n/a
19	chr6:106957081-106957131	HCF	heart:	n/a
20	chr6:106957081-106957131	NHDF-neo	bronchial:	n/a
21	chr6:106957081-106957131	IMR90	lung:	fetal
22	chr6:106957081-106957131	LNCaP	prostate:	n/a
23	chr6:106957081-106957131	PANC-1	pancreas:	n/a
24	chr6:106957081-106957131	AG09319	gingival:	n/a
25	chr6:106957081-106957131	T-47D	breast:	n/a
26	chr6:106957081-106957131	A549	lung:	n/a
27	chr6:106957081-106957131	Hela-S3	cervix:	n/a
28	chr6:106957081-106957131	GM06990	blood:	n/a
29	chr6:106957081-106957131	AoSMC	blood vessel:	n/a
30	chr6:106957081-106957131	NT2-D1	testis:	n/a
31	chr6:106957081-106957131	AG04449	skin:	fetal
32	chr6:106957081-106957131	PrEC	prostate:	n/a
33	chr6:106957081-106957131	U87	brain:	n/a
34	chr6:106957081-106957131	AG09309	skin:	n/a
35	chr6:106957081-106957131	MCF10A-Er-Src	breast:	n/a
36	chr6:106957081-106957131	HCT-116	colon:	n/a
37	chr6:106957081-106957131	CMK	blood:	n/a
38	chr6:106957081-106957131	Hepatocyte	liver:	n/a
39	chr6:106957081-106957131	HRE	kidney:	n/a
40	chr6:106957081-106957131	HRCEpiC	kidney:	n/a
41	chr6:106957081-106957131	SK-N-MC	brain:	n/a
42	chr6:106957081-106957131	NH-A	brain:	n/a
43	chr6:106957081-106957131	H1-hESC	embryonic stem cell:	embryo
44	chr6:106957081-106957131	Caco-2	colon:	n/a
45	chr6:106957081-106957131	ECC-1	luminal epithelium:	n/a
46	chr6:106957081-106957131	RPTEC	kidney:	n/a
47	chr6:106957081-106957131	HL-60	blood:	n/a
48	chr6:106957081-106957131	NB4	blood:	n/a
49	chr6:106957081-106957131	SK-N-SH_RA	brain:	n/a
50	chr6:106957081-106957131	K562	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106955204..106959628-chr6:106966256..106969365,4	K562	blood:
2	chr6:106956358..106959318-chr6:106991274..106994095,2	MCF-7	breast:

No data

Variant related genes	Relation type
AIM1	TF binding region
AIM1	CpG island
ENSG00000112297	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1417357	0.83[ASW][hapmap];0.96[CEU][hapmap];0.91[GIH][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9400021	0.86[CHB][hapmap];0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1417356	AIM1	cis	lymphoblastoid	seeQTL
rs1417356	AIM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106945600-106957600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:106950000-106957800	Weak transcription	Pancreas	Pancrea
3	chr6:106951200-106957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:106951400-106957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:106952600-106957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:106955400-106957400	Weak transcription	Esophagus	oesophagus
7	chr6:106955600-106957400	Weak transcription	HMEC	breast
8	chr6:106956400-106957600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:106956400-106957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:106956600-106957200	Enhancers	Hela-S3	cervix
11	chr6:106956600-106957400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:106956600-106957400	Enhancers	Adipose Nuclei	Adipose
13	chr6:106956600-106957600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr6:106956600-106958000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:106956800-106957200	Enhancers	Primary B cells from cord blood	blood
16	chr6:106956800-106957200	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:106956800-106957800	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr6:106956800-106957800	Bivalent Enhancer	NHLF	lung
19	chr6:106956800-106959600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:106957000-106957200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
21	chr6:106957000-106957200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr6:106957000-106957200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr6:106957000-106957200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr6:106957000-106957200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr6:106957000-106957200	Enhancers	Primary T cells from cord blood	blood
26	chr6:106957000-106957200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:106957000-106957200	Enhancers	NHEK	skin
28	chr6:106957000-106957400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr6:106957000-106957400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr6:106957000-106957400	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:106957000-106957400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:106957000-106957400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:106957000-106957400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:106957000-106957600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:106957000-106957600	Flanking Active TSS	Dnd41	blood
36	chr6:106957000-106957600	Bivalent Enhancer	NH-A	brain
37	chr6:106957000-106957800	Bivalent Enhancer	Fetal Lung	lung
38	chr6:106957000-106958000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:106957000-106959200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:106957000-106962800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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