Variant report

Variant	rs12338811
Chromosome Location	chr9:136743224-136743225
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: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	chr9:136742442..136743998-chr9:136752245..136754338,2	K562	blood:
2	chr9:136743218..136745863-chr9:136750249..136752756,2	K562	blood:
3	chr9:136733619..136743972-chr9:136852076..136861381,50	MCF-7	breast:
4	chr9:136741297..136743504-chr9:136863564..136865596,2	MCF-7	breast:
5	chr9:136737561..136740251-chr9:136741491..136743722,2	K562	blood:
6	chr9:136737400..136743457-chr9:136819359..136829756,12	MCF-7	breast:
7	chr9:136736139..136748779-chr9:136853521..136861128,82	MCF-7	breast:
8	chr9:136743217..136745167-chr9:136838200..136840998,2	MCF-7	breast:
9	chr9:136734507..136736594-chr9:136741200..136744507,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10116143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs10116617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10217159	0.81[AFR][1000 genomes]
rs10993825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10993831	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10993837	1.00[JPT][hapmap]
rs11507039	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12001190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12115818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12336628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338485	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12341506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347121	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12353234	0.81[AFR][1000 genomes]
rs2510250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs3763660	1.00[CEU][hapmap]
rs3780740	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780783	1.00[CEU][hapmap]
rs7032358	0.89[EUR][1000 genomes]
rs7036496	1.00[MEX][hapmap]
rs73559892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73559899	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7869522	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr9:136729800-136762600	Weak transcription	Right Ventricle	heart
3	chr9:136735600-136744200	Weak transcription	Fetal Brain Male	brain
4	chr9:136735600-136747400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:136736000-136760000	Weak transcription	Primary B cells from cord blood	blood
6	chr9:136736400-136745200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:136736800-136756200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:136737200-136749000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr9:136738400-136743800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:136738400-136744800	Genic enhancers	Fetal Intestine Small	intestine
11	chr9:136738800-136744400	Weak transcription	Fetal Brain Female	brain
12	chr9:136738800-136746000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:136738800-136746400	Weak transcription	Right Atrium	heart
14	chr9:136739400-136744400	Enhancers	Pancreas	Pancrea
15	chr9:136739400-136746400	Weak transcription	Fetal Lung	lung
16	chr9:136739800-136747600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:136739800-136748000	Enhancers	Liver	Liver
18	chr9:136739800-136748200	Weak transcription	Fetal Thymus	thymus
19	chr9:136740000-136747200	Weak transcription	NHLF	lung
20	chr9:136740000-136754800	Weak transcription	Osteobl	bone
21	chr9:136740200-136747000	Weak transcription	Lung	lung
22	chr9:136740200-136757400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr9:136740400-136746400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:136740400-136746400	Weak transcription	Spleen	Spleen
25	chr9:136740600-136744000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:136740600-136745200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:136741000-136745200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:136741400-136745400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:136741400-136746000	Weak transcription	HSMMtube	muscle
30	chr9:136741400-136746600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:136741400-136747200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr9:136741600-136745600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:136741800-136744200	Weak transcription	HepG2	liver
34	chr9:136741800-136744600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:136741800-136746200	Weak transcription	NH-A	brain
36	chr9:136741800-136746400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr9:136741800-136747000	Weak transcription	Gastric	stomach
38	chr9:136741800-136753000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr9:136741800-136753200	Weak transcription	A549	lung
40	chr9:136742000-136745400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:136742000-136745400	Weak transcription	Hela-S3	cervix
42	chr9:136742000-136745400	Weak transcription	HSMM	muscle
43	chr9:136742000-136745600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:136742000-136747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:136742000-136747400	Weak transcription	Brain Substantia Nigra	brain
46	chr9:136742200-136743600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:136742400-136743400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:136742400-136743400	Enhancers	Fetal Intestine Large	intestine
49	chr9:136742400-136744600	Strong transcription	GM12878-XiMat	blood
50	chr9:136742400-136745600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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