Variant report

Variant	rs952765
Chromosome Location	chr9:100367306-100367307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:100367013-100368083	K562	blood:	n/a	n/a
2	POLR2A	chr9:100367045-100367468	K562	blood:	n/a	n/a
3	POLR2A	chr9:100366648-100367450	K562	blood:	n/a	n/a
4	POLR2A	chr9:100367131-100367367	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:100366997-100367394	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:100367102-100367435	GM12891	blood:	n/a	n/a
7	POLR2A	chr9:100360719-100370063	K562	blood:	n/a	n/a
8	POLR2A	chr9:100367219-100367399	K562	blood:	n/a	n/a
9	POLR2A	chr9:100367100-100367477	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:100367127-100367793	GM12878	blood:	n/a	n/a
11	POLR2A	chr9:100367234-100367508	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:100365847..100368538-chr9:100369837..100371571,2	K562	blood:
2	chr12:132194912..132195812-chr9:100366402..100367362,2	NB4	blood:
3	chr9:100358063..100359850-chr9:100366510..100368844,2	MCF-7	breast:
4	chr9:100361363..100362991-chr9:100365453..100368100,2	MCF-7	breast:

No data

Variant related genes	Relation type
TSTD2	TF binding region
ENSG00000061936	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10116536	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10119687	0.96[CEU][hapmap]
rs10120102	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10123969	1.00[ASN][1000 genomes]
rs10983405	1.00[ASN][1000 genomes]
rs12344605	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12346336	1.00[ASN][1000 genomes]
rs12349178	1.00[ASN][1000 genomes]
rs16923269	0.96[CEU][hapmap]
rs16923677	0.92[CEU][hapmap]
rs16923719	1.00[ASN][1000 genomes]
rs17335265	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176639	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs3176748	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4284139	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4480232	0.96[CEU][hapmap]
rs4617277	1.00[ASN][1000 genomes]
rs7031623	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751548	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7849509	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100348800-100384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:100361000-100381200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:100361200-100368400	Strong transcription	Brain Anterior Caudate	brain
4	chr9:100361400-100368600	Strong transcription	Hela-S3	cervix
5	chr9:100361400-100370000	Strong transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:100361600-100368400	Strong transcription	Stomach Smooth Muscle	stomach
7	chr9:100361600-100369000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:100361600-100369200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
9	chr9:100361600-100369400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:100361600-100369800	Strong transcription	Dnd41	blood
11	chr9:100361600-100370200	Strong transcription	Brain Hippocampus Middle	brain
12	chr9:100361600-100371000	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr9:100361600-100371200	Strong transcription	Liver	Liver
14	chr9:100361600-100371400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:100361600-100371600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:100361600-100375800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr9:100361800-100368400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:100361800-100368400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr9:100361800-100369000	Strong transcription	Ovary	ovary
20	chr9:100361800-100369200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:100361800-100369400	Strong transcription	Brain Cingulate Gyrus	brain
22	chr9:100361800-100369800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:100361800-100370800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:100361800-100371200	Strong transcription	Placenta	Placenta
25	chr9:100361800-100371200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr9:100361800-100371400	Strong transcription	Primary B cells from cord blood	blood
27	chr9:100361800-100371400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:100361800-100371400	Strong transcription	Fetal Stomach	stomach
29	chr9:100361800-100371400	Strong transcription	Lung	lung
30	chr9:100361800-100374000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:100361800-100374400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr9:100361800-100375800	Strong transcription	Primary T cells from cord blood	blood
33	chr9:100361800-100376000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:100361800-100376000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr9:100361800-100376000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:100361800-100376000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr9:100361800-100383400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:100361800-100389000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:100361800-100394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr9:100362000-100369000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:100362000-100369800	Strong transcription	Fetal Lung	lung
42	chr9:100362000-100370000	Strong transcription	Fetal Intestine Large	intestine
43	chr9:100362200-100369200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr9:100362200-100373800	Weak transcription	Fetal Brain Male	brain
45	chr9:100362200-100379000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:100362400-100368200	Strong transcription	Osteobl	bone
47	chr9:100362400-100368800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:100362400-100369800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:100362400-100369800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:100362400-100371600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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