Variant report

Variant	rs10975611
Chromosome Location	chr9:6502279-6502280
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:6501754-6502290	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
UHRF2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2026972	0.83[CHB][hapmap]
rs3765555	0.91[CHB][hapmap]
rs3765556	0.91[CHB][hapmap]
rs7860627	0.84[CHB][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1029000	chr9:6188652-6687205	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv1031459	chr9:6216913-6657192	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv948562	chr9:6222553-6684955	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv1032350	chr9:6328167-6630686	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv892160	chr9:6364449-6506038	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv892161	chr9:6364449-6523056	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv831497	chr9:6377501-6612402	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1029766	chr9:6437020-6523605	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv892162	chr9:6480005-6788085	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
13	nsv831498	chr9:6496021-6689728	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6463600-6518400	Weak transcription	Fetal Brain Male	brain
2	chr9:6471600-6504600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:6472200-6508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:6473800-6506200	Weak transcription	Small Intestine	intestine
5	chr9:6474800-6502800	Strong transcription	Dnd41	blood
6	chr9:6475200-6503000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr9:6475400-6508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:6475400-6508400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:6475400-6508800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr9:6475400-6508800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr9:6475800-6509000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:6475800-6510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:6476000-6509400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:6477600-6507800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:6477800-6511000	Weak transcription	Fetal Heart	heart
16	chr9:6478400-6503400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr9:6480200-6508400	Weak transcription	Stomach Mucosa	stomach
18	chr9:6481600-6502800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr9:6487600-6510600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:6489200-6503000	Strong transcription	Primary B cells from cord blood	blood
21	chr9:6492800-6508800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:6493000-6502400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr9:6493000-6509000	Strong transcription	Adipose Nuclei	Adipose
24	chr9:6493400-6508400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr9:6493600-6503800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:6493600-6507400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:6493800-6502800	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr9:6493800-6506000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:6493800-6508200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr9:6494000-6508800	Strong transcription	GM12878-XiMat	blood
31	chr9:6494800-6502800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:6494800-6503600	Strong transcription	Primary T cells from cord blood	blood
33	chr9:6495000-6506400	Strong transcription	HepG2	liver
34	chr9:6495000-6508400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr9:6495200-6502600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr9:6495200-6503400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr9:6495200-6510800	Strong transcription	Fetal Thymus	thymus
38	chr9:6495400-6502400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:6495400-6503000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr9:6495400-6510200	Strong transcription	HUVEC	blood vessel
41	chr9:6495400-6510600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:6495400-6511400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:6496400-6503200	Strong transcription	Fetal Intestine Large	intestine
44	chr9:6496400-6508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:6496800-6502400	Strong transcription	Fetal Muscle Leg	muscle
46	chr9:6496800-6502800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:6496800-6502800	Strong transcription	Placenta	Placenta
48	chr9:6496800-6503200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:6496800-6508400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:6497000-6503200	Strong transcription	Fetal Muscle Trunk	muscle

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