Variant report

Variant	rs16869497
Chromosome Location	chr8:103541717-103541718
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103540947..103542816-chr8:103666262..103668771,2	K562	blood:
2	chr8:103422537..103426688-chr8:103540100..103542473,3	K562	blood:
3	chr8:103422537..103425322-chr8:103540234..103542841,3	K562	blood:
4	chr8:103541502..103544412-chr8:103664265..103666950,2	MCF-7	breast:
5	chr8:103423160..103425899-chr8:103539167..103542509,5	MCF-7	breast:
6	chr8:103422090..103425844-chr8:103540841..103544782,4	MCF-7	breast:
7	chr8:103537823..103539914-chr8:103541615..103544140,2	K562	blood:
8	chr8:103541696..103544133-chr8:103825198..103827958,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ODF1-1	chr8:103541539-103541931	XLOC_006892

No data

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10095950	0.81[ASN][1000 genomes]
rs10096593	0.99[ASN][1000 genomes]
rs10096810	0.81[ASN][1000 genomes]
rs10104124	0.81[ASN][1000 genomes]
rs13258245	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs13265183	0.81[ASN][1000 genomes]
rs1347318	0.81[ASN][1000 genomes]
rs16869498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869534	1.00[YRI][hapmap]
rs2033561	0.81[ASN][1000 genomes]
rs4734636	0.81[ASN][1000 genomes]
rs72683057	0.86[AFR][1000 genomes]
rs892503	0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16869497	TM7SF4	cis	cerebellum	SCAN
rs16869497	CTHRC1	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103540200-103541800	Active TSS	Brain Anterior Caudate	brain
2	chr8:103540200-103541800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr8:103540200-103541800	Active TSS	Colonic Mucosa	Colon
4	chr8:103540200-103541800	Active TSS	HSMMtube	muscle
5	chr8:103540200-103542400	Active TSS	GM12878-XiMat	blood
6	chr8:103540400-103541800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:103540400-103541800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:103540400-103541800	Active TSS	NHDF-Ad	bronchial
9	chr8:103540600-103541800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:103540600-103542800	Active TSS	Fetal Brain Female	brain
11	chr8:103540800-103541800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:103541000-103541800	Enhancers	Fetal Heart	heart
13	chr8:103541000-103541800	Active TSS	NHLF	lung
14	chr8:103541000-103542800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr8:103541000-103543400	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:103541000-103548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:103541200-103541800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:103541200-103541800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:103541200-103541800	Flanking Active TSS	Fetal Brain Male	brain
20	chr8:103541200-103541800	Enhancers	Fetal Lung	lung
21	chr8:103541200-103541800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:103541200-103542400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:103541200-103542400	Weak transcription	HMEC	breast
24	chr8:103541200-103542600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:103541200-103542800	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:103541200-103546200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:103541200-103546400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:103541200-103546600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:103541200-103547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:103541200-103549000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:103541400-103541800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:103541400-103541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:103541400-103541800	Flanking Active TSS	K562	blood
34	chr8:103541400-103542400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:103541400-103542800	Active TSS	Brain Germinal Matrix	brain
36	chr8:103541400-103543200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:103541400-103543200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:103541400-103543200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:103541400-103543400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:103541400-103543400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr8:103541400-103543600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr8:103541400-103545200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:103541400-103546200	Weak transcription	Right Ventricle	heart
44	chr8:103541400-103547800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:103541400-103547800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:103541400-103548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:103541400-103548000	Weak transcription	Aorta	Aorta
48	chr8:103541400-103548200	Weak transcription	Pancreas	Pancrea
49	chr8:103541600-103541800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:103541600-103541800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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