Variant report

Variant	rs4745543
Chromosome Location	chr9:71654681-71654682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71650420..71652084-chr9:71654261..71655791,2	MCF-7	breast:
2	chr9:71649378..71651041-chr9:71654267..71655823,2	MCF-7	breast:
3	chr9:71649121..71652086-chr9:71654303..71656330,3	K562	blood:

Variant related genes	Relation type
ENSG00000165060	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10126006	0.84[CEU][hapmap]
rs10781379	0.82[JPT][hapmap]
rs12000125	0.87[CHB][hapmap]
rs12001326	0.87[CHB][hapmap]
rs2309393	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs2481599	0.84[AMR][1000 genomes]
rs3763608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3763609	0.87[CHB][hapmap]
rs3793456	0.82[CEU][hapmap]
rs3793461	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs3793465	0.81[CEU][hapmap]
rs3793466	0.83[JPT][hapmap]
rs3793467	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs4744787	0.87[CHB][hapmap]
rs7046232	0.87[CHB][hapmap]
rs7849347	0.83[JPT][hapmap]
rs7865353	0.81[EUR][1000 genomes]
rs7868040	0.83[AMR][1000 genomes]
rs7875659	0.83[JPT][hapmap]
rs7875693	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	26 gene(s)	inside rSNPs	diseases
14	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
23	nsv1040539	chr9:71600042-71844108	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv540149	chr9:71600042-71844108	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv949664	chr9:71607398-71842391	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	nsv466398	chr9:71612891-71671116	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv614551	chr9:71612891-71671116	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv948708	chr9:71632265-71842391	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv1037787	chr9:71635338-71807648	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
30	nsv540151	chr9:71635338-71807648	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71651400-71663800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:71651600-71661800	Weak transcription	Fetal Brain Female	brain
3	chr9:71651800-71655800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:71651800-71656200	Weak transcription	Psoas Muscle	Psoas
5	chr9:71651800-71658800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:71651800-71659400	Weak transcription	Gastric	stomach
7	chr9:71651800-71661400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:71651800-71661600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:71651800-71680600	Weak transcription	HSMMtube	muscle
10	chr9:71652000-71654800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:71652000-71654800	Weak transcription	Primary T cells from cord blood	blood
12	chr9:71652000-71655000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:71652000-71655800	Weak transcription	Liver	Liver
14	chr9:71652000-71656000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr9:71652000-71656000	Weak transcription	Left Ventricle	heart
16	chr9:71652000-71656000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:71652000-71656200	Weak transcription	Ovary	ovary
18	chr9:71652000-71656400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:71652000-71656400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:71652000-71656400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr9:71652000-71656600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:71652000-71656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:71652000-71657000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:71652000-71657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr9:71652000-71658200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:71652000-71658800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr9:71652000-71659000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:71652000-71659000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:71652000-71659000	Weak transcription	Fetal Heart	heart
30	chr9:71652000-71659000	Weak transcription	Fetal Lung	lung
31	chr9:71652000-71659200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr9:71652000-71659200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:71652000-71659200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:71652000-71659200	Weak transcription	Colonic Mucosa	Colon
35	chr9:71652000-71659200	Weak transcription	Pancreas	Pancrea
36	chr9:71652000-71659200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr9:71652000-71659400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:71652000-71659400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:71652000-71659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:71652000-71659400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr9:71652000-71659400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:71652000-71659400	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:71652000-71659400	Weak transcription	Lung	lung
44	chr9:71652000-71659400	Weak transcription	Right Ventricle	heart
45	chr9:71652000-71659400	Weak transcription	Hela-S3	cervix
46	chr9:71652000-71659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:71652000-71659600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr9:71652000-71659600	Weak transcription	GM12878-XiMat	blood
49	chr9:71652000-71659600	Weak transcription	NH-A	brain
50	chr9:71652000-71660600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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