Variant report

Variant	rs1135265
Chromosome Location	chr16:31464078-31464079
allele	C/T
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:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31199383..31201639-chr16:31463370..31465464,2	K562	blood:
2	chr16:31117349..31119792-chr16:31461701..31464533,2	MCF-7	breast:
3	chr16:31461791..31465171-chr16:31706376..31712369,7	MCF-7	breast:
4	chr16:31461549..31464190-chr16:31877877..31881538,3	MCF-7	breast:
5	chr16:31207553..31209957-chr16:31462352..31464539,2	MCF-7	breast:
6	chr16:31463366..31472153-chr16:31517209..31524290,14	MCF-7	breast:
7	chr16:31190467..31192318-chr16:31463752..31465478,2	MCF-7	breast:
8	chr16:31463491..31466396-chr16:31481913..31484379,2	K562	blood:
9	chr16:31453452..31455798-chr16:31461507..31464470,2	K562	blood:
10	chr16:31462018..31465168-chr16:31706757..31713127,6	MCF-7	breast:
11	chr16:31463123..31465642-chr16:31723670..31725926,2	MCF-7	breast:
12	chr16:31153495..31155416-chr16:31461666..31464512,2	MCF-7	breast:
13	chr16:31453146..31459042-chr16:31460540..31465724,10	K562	blood:
14	chr16:31452353..31455604-chr16:31463840..31468906,4	MCF-7	breast:
15	chr16:31375595..31378224-chr16:31462241..31464094,2	K562	blood:
16	chr16:31462405..31464268-chr16:31520250..31522210,2	K562	blood:
17	chr16:31463991..31465903-chr16:31493683..31496529,2	K562	blood:
18	chr16:30962472..30964372-chr16:31462988..31464590,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF843-2	chr16:31460668-31470316	NONHSAT141904

No data

Variant related genes	Relation type
ENSG00000140675	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000260568	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000260472	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10596	0.87[CEU][hapmap];0.86[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11150624	0.82[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11643752	1.00[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11646054	0.80[AFR][1000 genomes]
rs11646911	0.82[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12923122	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12930621	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3116150	0.82[ASW][hapmap]
rs4243237	0.86[JPT][hapmap]
rs4313820	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4889661	0.82[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4889664	0.86[JPT][hapmap]
rs8048218	0.86[JPT][hapmap];0.86[MEX][hapmap]
rs8050563	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
9	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
10	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1135265	FBXL19	cis	cerebellum	SCAN
rs1135265	FUS	cis	cerebellum	SCAN
rs1135265	ZNF646	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31454600-31464600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:31454600-31466400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:31454800-31466400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr16:31454800-31466400	Weak transcription	Primary T cells from cord blood	blood
5	chr16:31454800-31466400	Weak transcription	Dnd41	blood
6	chr16:31454800-31466600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:31455600-31464800	Weak transcription	Fetal Intestine Small	intestine
8	chr16:31457600-31466800	Weak transcription	Brain Germinal Matrix	brain
9	chr16:31462200-31465400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr16:31462200-31465400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:31462200-31466400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:31462200-31466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:31462600-31465000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:31462600-31465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:31462600-31465200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr16:31462600-31469000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:31462800-31464400	Enhancers	Rectal Smooth Muscle	rectum
18	chr16:31462800-31464400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr16:31462800-31464600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:31462800-31464600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:31462800-31464600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr16:31462800-31464600	Enhancers	HepG2	liver
23	chr16:31462800-31464600	Enhancers	NHDF-Ad	bronchial
24	chr16:31462800-31464600	Enhancers	NHEK	skin
25	chr16:31462800-31464800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr16:31462800-31465200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:31462800-31465200	Enhancers	Brain Angular Gyrus	brain
28	chr16:31462800-31465200	Enhancers	Brain Cingulate Gyrus	brain
29	chr16:31462800-31465200	Enhancers	Brain Hippocampus Middle	brain
30	chr16:31462800-31465200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:31462800-31465200	Enhancers	Brain Substantia Nigra	brain
32	chr16:31462800-31465200	Enhancers	Fetal Heart	heart
33	chr16:31462800-31465200	Enhancers	Fetal Kidney	kidney
34	chr16:31462800-31465400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:31462800-31465400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr16:31462800-31465400	Enhancers	Brain Anterior Caudate	brain
37	chr16:31462800-31465400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr16:31462800-31465400	Enhancers	Colon Smooth Muscle	Colon
39	chr16:31462800-31465400	Enhancers	HMEC	breast
40	chr16:31462800-31465800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr16:31462800-31465800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:31462800-31466400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:31462800-31466600	Enhancers	Fetal Muscle Leg	muscle
44	chr16:31462800-31469000	Enhancers	NH-A	brain
45	chr16:31463000-31464600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr16:31463000-31464600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:31463000-31464600	Enhancers	Adipose Nuclei	Adipose
48	chr16:31463000-31464600	Enhancers	Stomach Smooth Muscle	stomach
49	chr16:31463000-31464800	Enhancers	HSMM	muscle
50	chr16:31463000-31465000	Weak transcription	Fetal Brain Male	brain

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