Variant report

Variant	rs312781
Chromosome Location	chr11:68113724-68113725
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: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	chr11:68107354..68109500-chr11:68111618..68115254,3	K562	blood:
2	chr11:68107593..68111498-chr11:68113363..68117300,5	MCF-7	breast:
3	chr11:68113645..68115715-chr11:68116724..68119590,2	MCF-7	breast:
4	chr11:68077886..68089318-chr11:68104706..68113920,31	MCF-7	breast:
5	chr11:68110633..68112751-chr11:68113454..68115188,4	K562	blood:
6	chr11:68113675..68115970-chr11:68117419..68119405,2	K562	blood:
7	chr11:68113529..68115408-chr11:68153992..68155661,2	MCF-7	breast:
8	chr11:68108931..68115142-chr11:68135401..68140500,11	MCF-7	breast:
9	chr11:68038947..68041171-chr11:68112228..68114844,2	MCF-7	breast:
10	chr11:68093834..68096704-chr11:68112935..68114640,2	K562	blood:
11	chr11:68108161..68113775-chr11:68145002..68152027,11	MCF-7	breast:
12	chr11:68078044..68085563-chr11:68107392..68113786,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171067	Chromatin interaction
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11826287	0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs160607	0.89[ASW][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap]
rs170193	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs312777	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs312778	0.89[CHD][hapmap]
rs312783	0.90[CHB][hapmap];0.89[CHD][hapmap]
rs312786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312788	0.90[CHB][hapmap];0.89[CHD][hapmap]
rs312792	0.90[CHB][hapmap];0.89[CHD][hapmap]
rs312793	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs314760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314775	0.90[CHB][hapmap]
rs74743	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs312781	LTBP3	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:68098400-68115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:68104600-68119600	Enhancers	Liver	Liver
4	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
5	chr11:68107800-68115000	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:68108000-68115000	Weak transcription	Dnd41	blood
7	chr11:68108600-68115000	Enhancers	Placenta	Placenta
8	chr11:68108600-68121800	Weak transcription	HUVEC	blood vessel
9	chr11:68109000-68113800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:68109000-68115600	Weak transcription	Primary T cells from cord blood	blood
11	chr11:68109000-68117000	Weak transcription	Thymus	Thymus
12	chr11:68109200-68119800	Weak transcription	Hela-S3	cervix
13	chr11:68110200-68118200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
15	chr11:68110800-68113800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:68110800-68113800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:68110800-68113800	Weak transcription	Aorta	Aorta
18	chr11:68110800-68114200	Weak transcription	HSMMtube	muscle
19	chr11:68110800-68119200	Weak transcription	NH-A	brain
20	chr11:68110800-68125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:68111000-68114800	Weak transcription	Brain Substantia Nigra	brain
22	chr11:68111000-68117000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:68111000-68122200	Weak transcription	Small Intestine	intestine
24	chr11:68111200-68113800	Weak transcription	Fetal Thymus	thymus
25	chr11:68111200-68114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:68111200-68115000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:68111200-68117200	Weak transcription	Fetal Lung	lung
28	chr11:68111200-68118200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:68111200-68120400	Weak transcription	HSMM	muscle
30	chr11:68111200-68121600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:68111400-68116600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:68111400-68121200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:68111400-68126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:68111600-68113800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:68111600-68114400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:68111600-68114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:68111600-68116800	Weak transcription	Colonic Mucosa	Colon
39	chr11:68111600-68117000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:68111600-68118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:68111600-68121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:68111800-68113800	Weak transcription	Gastric	stomach
43	chr11:68111800-68113800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:68111800-68115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:68111800-68120600	Weak transcription	NHEK	skin
46	chr11:68111800-68120800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:68112000-68120200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:68112200-68113800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:68112200-68115400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:68112200-68121200	Weak transcription	Rectal Mucosa Donor 31	rectum

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