Variant report

Variant	rs62578858
Chromosome Location	chr9:117387257-117387258
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:117373091..117376676-chr9:117386380..117392988,6	MCF-7	breast:
2	chr9:117380986..117384351-chr9:117385688..117388944,4	MCF-7	breast:
3	chr9:117372335..117375171-chr9:117385613..117387571,2	K562	blood:
4	chr9:117386065..117390053-chr9:117395707..117398549,3	MCF-7	breast:
5	chr9:117386136..117388581-chr9:117390246..117391877,3	MCF-7	breast:
6	chr9:117385953..117388344-chr9:117389964..117392339,3	K562	blood:
7	chr9:117383585..117385316-chr9:117387246..117388987,2	K562	blood:
8	chr9:117369156..117370961-chr9:117385955..117388099,2	MCF-7	breast:
9	chr9:117376444..117379190-chr9:117386503..117389229,2	K562	blood:
10	chr9:117371877..117375132-chr9:117385092..117388539,5	K562	blood:
11	chr9:117372577..117376440-chr9:117385141..117391874,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201749	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000272241	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10448251	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817641	1.00[ASN][1000 genomes]
rs10982293	1.00[ASN][1000 genomes]
rs10982298	1.00[ASN][1000 genomes]
rs10982300	1.00[ASN][1000 genomes]
rs10982302	1.00[ASN][1000 genomes]
rs10982305	1.00[ASN][1000 genomes]
rs10982306	1.00[ASN][1000 genomes]
rs10982307	1.00[ASN][1000 genomes]
rs10982308	1.00[ASN][1000 genomes]
rs10982309	1.00[ASN][1000 genomes]
rs10982312	1.00[ASN][1000 genomes]
rs10982313	1.00[ASN][1000 genomes]
rs10982314	1.00[ASN][1000 genomes]
rs10982316	1.00[ASN][1000 genomes]
rs10982318	1.00[ASN][1000 genomes]
rs10982322	1.00[ASN][1000 genomes]
rs10982339	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982352	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12005529	1.00[ASN][1000 genomes]
rs12378786	1.00[ASN][1000 genomes]
rs12379017	1.00[ASN][1000 genomes]
rs41278669	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62578796	1.00[ASN][1000 genomes]
rs62578799	1.00[ASN][1000 genomes]
rs62578848	1.00[ASN][1000 genomes]
rs62578852	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578853	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578854	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578856	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62578857	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62579680	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62579681	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62579682	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7019057	1.00[ASN][1000 genomes]
rs7043244	1.00[ASN][1000 genomes]
rs73656153	1.00[ASN][1000 genomes]
rs999009	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
2	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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	157 gene(s)	inside rSNPs	diseases
6	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS 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 miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS 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	43 gene(s)	inside rSNPs	diseases
19	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
20	nsv1047704	chr9:116978041-117399362	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
21	nsv540205	chr9:116978041-117399362	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	nsv530950	chr9:117009156-117399361	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	nsv916139	chr9:117009169-117399454	Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
24	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
25	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
26	esv1008480	chr9:117373830-117388680	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv893766	chr9:117385992-117516418	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117374600-117387800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:117375000-117388800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:117375000-117388800	Weak transcription	Liver	Liver
4	chr9:117375000-117391200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:117375000-117405200	Weak transcription	Psoas Muscle	Psoas
6	chr9:117375000-117410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:117375200-117388800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:117375200-117388800	Weak transcription	Aorta	Aorta
9	chr9:117375200-117388800	Weak transcription	Pancreas	Pancrea
10	chr9:117375200-117389800	Weak transcription	Fetal Brain Male	brain
11	chr9:117375200-117405400	Weak transcription	Small Intestine	intestine
12	chr9:117375400-117389800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:117375600-117388800	Weak transcription	Brain Substantia Nigra	brain
14	chr9:117375600-117389600	Weak transcription	Brain Germinal Matrix	brain
15	chr9:117375600-117405400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:117375800-117388800	Weak transcription	Fetal Intestine Large	intestine
17	chr9:117375800-117389800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:117375800-117409200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:117375800-117415600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:117376000-117389000	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:117376200-117388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr9:117376200-117390000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:117376200-117390000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:117376200-117415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:117376400-117391200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:117376400-117396800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:117376600-117396200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:117379400-117390000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:117379400-117409600	Strong transcription	Dnd41	blood
30	chr9:117379600-117388600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:117379600-117389000	Weak transcription	HepG2	liver
32	chr9:117379600-117390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:117380600-117399000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr9:117380600-117409200	Strong transcription	Primary T cells from cord blood	blood
35	chr9:117381200-117389400	Weak transcription	K562	blood
36	chr9:117381800-117388800	Weak transcription	Brain Angular Gyrus	brain
37	chr9:117381800-117388800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:117381800-117389800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr9:117382000-117387800	Weak transcription	Esophagus	oesophagus
40	chr9:117382000-117388800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr9:117382000-117389000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:117382000-117396000	Weak transcription	Colonic Mucosa	Colon
43	chr9:117382000-117415000	Weak transcription	Fetal Kidney	kidney
44	chr9:117382200-117388600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:117382200-117390200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:117382200-117407600	Weak transcription	Stomach Mucosa	stomach
47	chr9:117383000-117387400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:117383000-117403800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:117383200-117387400	Strong transcription	Primary B cells from cord blood	blood
50	chr9:117384000-117387400	Strong transcription	Thymus	Thymus

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