Variant report

Variant	rs12555351
Chromosome Location	chr9:117384239-117384240
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117383585..117385316-chr9:117387246..117388987,2	K562	blood:
2	chr9:117348515..117353806-chr9:117380145..117387168,10	MCF-7	breast:
3	chr9:117312633..117314960-chr9:117382649..117384757,2	MCF-7	breast:
4	chr9:117266050..117268443-chr9:117383389..117385752,2	MCF-7	breast:
5	chr9:117380986..117384351-chr9:117385688..117388944,4	MCF-7	breast:
6	chr9:117365943..117368683-chr9:117383355..117385345,2	K562	blood:
7	chr9:117379630..117381202-chr9:117382713..117384791,2	K562	blood:
8	chr9:117382516..117384925-chr9:117414497..117416064,2	MCF-7	breast:
9	chr9:117164837..117167280-chr9:117381575..117384542,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000095397	Chromatin interaction
ENSG00000136888	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10982246	1.00[YRI][hapmap]
rs10982356	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10982363	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11787667	1.00[YRI][hapmap]
rs12553955	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12554436	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12682849	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12685234	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16930406	0.96[AMR][1000 genomes]
rs16930411	0.96[AMR][1000 genomes]
rs16930570	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16936510	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4472586	0.93[AMR][1000 genomes]
rs6478094	0.89[ASN][1000 genomes]
rs943845	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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

No data

Chromatin state (count:117 , 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	chr9:117375200-117385600	Weak transcription	Fetal Intestine Small	intestine
8	chr9:117375200-117388800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:117375200-117388800	Weak transcription	Aorta	Aorta
10	chr9:117375200-117388800	Weak transcription	Pancreas	Pancrea
11	chr9:117375200-117389800	Weak transcription	Fetal Brain Male	brain
12	chr9:117375200-117405400	Weak transcription	Small Intestine	intestine
13	chr9:117375400-117389800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr9:117375600-117388800	Weak transcription	Brain Substantia Nigra	brain
15	chr9:117375600-117389600	Weak transcription	Brain Germinal Matrix	brain
16	chr9:117375600-117405400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:117375800-117388800	Weak transcription	Fetal Intestine Large	intestine
18	chr9:117375800-117389800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:117375800-117409200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:117375800-117415600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:117376000-117389000	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:117376200-117388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr9:117376200-117390000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:117376200-117390000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:117376200-117415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:117376400-117391200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:117376400-117396800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:117376600-117396200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr9:117379400-117387200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr9:117379400-117390000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr9:117379400-117409600	Strong transcription	Dnd41	blood
32	chr9:117379600-117384600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:117379600-117388600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:117379600-117389000	Weak transcription	HepG2	liver
35	chr9:117379600-117390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr9:117380400-117386200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr9:117380600-117399000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr9:117380600-117409200	Strong transcription	Primary T cells from cord blood	blood
39	chr9:117381200-117389400	Weak transcription	K562	blood
40	chr9:117381800-117388800	Weak transcription	Brain Angular Gyrus	brain
41	chr9:117381800-117388800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:117381800-117389800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr9:117382000-117384600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr9:117382000-117384600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:117382000-117384800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:117382000-117385800	Weak transcription	Brain Anterior Caudate	brain
47	chr9:117382000-117387800	Weak transcription	Esophagus	oesophagus
48	chr9:117382000-117388800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr9:117382000-117389000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr9:117382000-117396000	Weak transcription	Colonic Mucosa	Colon

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