Variant report

Variant	rs34727114
Chromosome Location	chr3:161138929-161138930
allele	A/C
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160821746..160823709-chr3:161138366..161141285,2	MCF-7	breast:
2	chr3:161137315..161139728-chr3:161159914..161161772,2	MCF-7	breast:
3	chr3:160818575..160820574-chr3:161136841..161139242,3	MCF-7	breast:
4	chr3:160954897..160957855-chr3:161138681..161140607,2	MCF-7	breast:
5	chr3:161134333..161136577-chr3:161138174..161140104,2	K562	blood:
6	chr3:160819430..160825093-chr3:161138517..161141726,6	MCF-7	breast:
7	chr3:160784766..160787646-chr3:161137298..161141604,4	MCF-7	breast:
8	chr1:197492034..197493668-chr3:161137315..161140099,2	MCF-7	breast:
9	chr3:160815084..160818315-chr3:161137399..161140050,3	MCF-7	breast:
10	chr3:161137896..161142184-chr3:161162436..161166379,4	MCF-7	breast:
11	chr16:2019121..2021782-chr3:161137022..161139861,2	MCF-7	breast:
12	chr3:161137228..161139292-chr3:161143191..161144767,2	MCF-7	breast:
13	chr3:161009145..161011846-chr3:161137237..161140694,4	MCF-7	breast:
14	chr3:160934874..160951087-chr3:161118055..161142485,77	MCF-7	breast:
15	chr3:161137133..161139067-chr6:13709956..13712143,2	MCF-7	breast:
16	chr3:161007555..161015806-chr3:161127103..161142651,19	MCF-7	breast:
17	chr3:160938218..160944428-chr3:161134456..161142008,22	MCF-7	breast:
18	chr3:161136644..161139076-chr3:161160623..161163367,2	MCF-7	breast:
19	chr16:28832102..28834960-chr3:161138093..161140992,2	MCF-7	breast:
20	chr3:161137822..161140079-chr3:161140327..161142102,2	MCF-7	breast:
21	chr3:160280239..160283281-chr3:161137258..161140224,3	MCF-7	breast:
22	chr3:160813203..160815910-chr3:161138848..161140414,2	MCF-7	breast:
23	chr3:161129223..161130700-chr3:161138298..161139267,5	MCF-7	breast:
24	chr3:161040220..161042157-chr3:161138208..161140268,2	MCF-7	breast:
25	chr3:161056968..161057820-chr3:161138358..161138956,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260796	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000240567	Chromatin interaction
ENSG00000271052	Chromatin interaction
ENSG00000169255	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000169251	Chromatin interaction
ENSG00000168488	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11710086	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11710916	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11713185	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1349352	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16832246	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16832279	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1811483	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1839491	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2061804	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs404725	0.94[ASN][1000 genomes]
rs456882	0.81[ASN][1000 genomes]
rs458175	0.80[ASN][1000 genomes]
rs460950	0.81[ASN][1000 genomes]
rs463630	0.81[ASN][1000 genomes]
rs463890	0.80[ASN][1000 genomes]
rs467458	0.81[ASN][1000 genomes]
rs67077657	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73021449	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
3	nsv829772	chr3:161047817-161202554	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv877710	chr3:161087857-161245414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34727114	SPTSSB	cis	Thyroid	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161131600-161140000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:161134400-161139800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:161134400-161141200	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:161134400-161145200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:161134400-161148200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:161134600-161140000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:161137200-161141400	Enhancers	HepG2	liver
8	chr3:161137400-161139400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:161137800-161140000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:161138000-161139000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:161138000-161139000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:161138000-161139400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:161138000-161139400	Enhancers	Stomach Mucosa	stomach
14	chr3:161138000-161139600	Enhancers	Liver	Liver
15	chr3:161138000-161140000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:161138000-161141400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:161138200-161139000	Enhancers	Fetal Brain Male	brain
18	chr3:161138200-161139200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr3:161138200-161139400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr3:161138200-161139400	Enhancers	HMEC	breast
21	chr3:161138200-161140000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:161138400-161139000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr3:161138400-161139000	Enhancers	Fetal Lung	lung
24	chr3:161138400-161139200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr3:161138400-161139200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr3:161138400-161139400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr3:161138400-161139400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:161138400-161140400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:161138600-161139000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:161138600-161139000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:161138600-161139000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:161138600-161139000	Enhancers	Fetal Brain Female	brain
33	chr3:161138600-161139000	Enhancers	Fetal Intestine Large	intestine
34	chr3:161138600-161139000	Enhancers	Fetal Kidney	kidney
35	chr3:161138600-161139200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:161138600-161139200	Enhancers	Brain Germinal Matrix	brain
37	chr3:161138600-161139200	Enhancers	Fetal Thymus	thymus
38	chr3:161138600-161139200	Enhancers	HUVEC	blood vessel
39	chr3:161138600-161139200	Enhancers	NHLF	lung
40	chr3:161138600-161139400	Enhancers	NH-A	brain
41	chr3:161138600-161139600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:161138600-161140600	Enhancers	Fetal Muscle Leg	muscle
43	chr3:161138800-161139000	Enhancers	Psoas Muscle	Psoas
44	chr3:161138800-161139000	Flanking Active TSS	A549	lung
45	chr3:161138800-161139000	Flanking Active TSS	NHEK	skin
46	chr3:161138800-161139200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr3:161138800-161139200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:161138800-161139200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:161138800-161139200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr3:161138800-161139200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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