Variant report

Variant	rs12551204
Chromosome Location	chr9:100932318-100932319
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100931625..100934917-chr9:101017111..101019893,4	K562	blood:
2	chr9:100930925..100932866-chr9:100942560..100944463,2	K562	blood:
3	chr9:100930069..100933063-chr9:100933663..100936506,3	MCF-7	breast:
4	chr9:100926427..100928565-chr9:100932052..100933723,2	MCF-7	breast:
5	chr9:100921877..100926007-chr9:100929067..100934621,5	K562	blood:
6	chr9:100889516..100891582-chr9:100931908..100934186,2	K562	blood:
7	chr9:100930731..100932939-chr9:100939830..100941779,2	K562	blood:
8	chr9:100881024..100882919-chr9:100930055..100932510,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000095383	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000106785	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10491724	0.93[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs16913411	0.86[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs16913573	0.80[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16913575	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs2231652	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2231656	0.86[CHB][hapmap];0.90[ASN][1000 genomes]
rs2275710	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs3758263	0.90[ASN][1000 genomes]
rs56735263	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57830760	0.81[ASN][1000 genomes]
rs7040921	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv893613	chr9:100885779-100943397	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100909400-100933600	Weak transcription	Colonic Mucosa	Colon
2	chr9:100917600-100933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:100920400-100942200	Weak transcription	Primary T cells from cord blood	blood
4	chr9:100921800-100935200	Weak transcription	Lung	lung
5	chr9:100922400-100933600	Weak transcription	Gastric	stomach
6	chr9:100924600-100939000	Enhancers	Duodenum Mucosa	Duodenum
7	chr9:100924800-100935000	Enhancers	Fetal Intestine Large	intestine
8	chr9:100926200-100935000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:100926800-100934800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:100927000-100936800	Weak transcription	Thymus	Thymus
11	chr9:100928200-100933000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr9:100929000-100932600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr9:100929800-100932400	Enhancers	Stomach Mucosa	stomach
14	chr9:100929800-100935800	Enhancers	K562	blood
15	chr9:100930200-100932800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:100930400-100932400	Enhancers	HMEC	breast
17	chr9:100930400-100933800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:100930600-100932400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:100930600-100932400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:100930600-100932600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:100930600-100932600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr9:100930600-100932600	Enhancers	GM12878-XiMat	blood
23	chr9:100930600-100932800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr9:100930600-100932800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:100930600-100933200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:100930600-100933800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr9:100930800-100932400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr9:100930800-100932600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:100930800-100932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:100930800-100932600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:100930800-100932600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:100930800-100932600	Enhancers	NHEK	skin
33	chr9:100930800-100932800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:100930800-100933000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr9:100930800-100933800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr9:100930800-100936000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:100930800-100938000	Genic enhancers	Fetal Intestine Small	intestine
38	chr9:100931000-100932400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:100931000-100932400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr9:100931000-100932600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr9:100931000-100932600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr9:100931200-100932400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:100931200-100932400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:100931200-100932400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:100931200-100932400	Enhancers	Fetal Thymus	thymus
46	chr9:100931400-100932400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr9:100931400-100937400	Weak transcription	Spleen	Spleen
48	chr9:100931800-100933800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
50	chr9:100932000-100932600	Enhancers	Esophagus	oesophagus

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