Variant report

Variant	rs57847527
Chromosome Location	chr9:71809494-71809495
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71735620..71737619-chr9:71808217..71809770,2	MCF-7	breast:
2	chr9:71800754..71805797-chr9:71805912..71810495,5	K562	blood:
3	chr9:71768851..71770406-chr9:71807672..71810117,2	MCF-7	breast:
4	chr9:71735477..71738018-chr9:71807663..71810150,2	MCF-7	breast:
5	chr9:71807885..71810232-chr9:71825677..71828863,3	K562	blood:

Variant related genes	Relation type
ENSG00000119139	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57260043	0.91[AFR][1000 genomes]
rs58812039	0.91[AFR][1000 genomes]
rs58952707	0.88[AFR][1000 genomes]
rs60225159	0.91[AFR][1000 genomes]
rs60585707	1.00[AMR][1000 genomes]
rs60717517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449163	0.81[AFR][1000 genomes]
rs73449168	0.88[AFR][1000 genomes]
rs73449202	0.81[AFR][1000 genomes]
rs73450813	0.81[AFR][1000 genomes]
rs73450836	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv817209	chr9:71675454-71829412	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
20	nsv893427	chr9:71762766-71858517	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71790400-71832200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:71790400-71835600	Weak transcription	Colonic Mucosa	Colon
3	chr9:71795600-71814400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:71797000-71814600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:71797200-71832000	Weak transcription	Esophagus	oesophagus
6	chr9:71801000-71811800	Enhancers	Liver	Liver
7	chr9:71801600-71809600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:71802600-71810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:71802800-71810600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:71803000-71810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:71804000-71813400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:71804000-71831800	Weak transcription	Aorta	Aorta
13	chr9:71805000-71817000	Enhancers	Brain Substantia Nigra	brain
14	chr9:71805200-71815400	Enhancers	Fetal Heart	heart
15	chr9:71805400-71817000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:71805600-71811400	Enhancers	Brain Angular Gyrus	brain
17	chr9:71806000-71809600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:71806000-71814400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:71806000-71814600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:71806200-71809600	Weak transcription	Fetal Intestine Small	intestine
21	chr9:71806200-71812600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:71806200-71812600	Weak transcription	Gastric	stomach
23	chr9:71806200-71814400	Weak transcription	NHEK	skin
24	chr9:71806200-71815000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:71806400-71810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:71806400-71811600	Enhancers	HepG2	liver
27	chr9:71806600-71816200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:71806600-71819000	Weak transcription	Fetal Kidney	kidney
29	chr9:71807200-71813600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:71807400-71809600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:71807400-71809600	Weak transcription	GM12878-XiMat	blood
32	chr9:71807400-71832200	Weak transcription	Primary T cells from cord blood	blood
33	chr9:71807600-71809800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr9:71807600-71814400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:71807800-71809600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:71807800-71810400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:71807800-71812600	Weak transcription	Ovary	ovary
38	chr9:71807800-71842800	Weak transcription	Small Intestine	intestine
39	chr9:71808000-71809600	Weak transcription	Brain Anterior Caudate	brain
40	chr9:71808000-71809800	Weak transcription	Right Atrium	heart
41	chr9:71808000-71810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:71808000-71810600	Weak transcription	Fetal Lung	lung
43	chr9:71808000-71812000	Weak transcription	Lung	lung
44	chr9:71808000-71812600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr9:71808000-71812600	Weak transcription	Right Ventricle	heart
46	chr9:71808000-71814200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:71808000-71814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:71808000-71814400	Weak transcription	Psoas Muscle	Psoas
49	chr9:71808000-71814600	Weak transcription	Fetal Intestine Large	intestine
50	chr9:71808000-71819200	Weak transcription	NHLF	lung

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