Variant report

Variant	rs12347744
Chromosome Location	chr9:97575273-97575274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97571068..97573094-chr9:97573696..97575694,2	K562	blood:
2	chr9:97573279..97576289-chr9:97736282..97739747,3	MCF-7	breast:
3	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
4	chr9:97572097..97590438-chr9:97672990..97690806,63	MCF-7	breast:
5	chr9:97574512..97576255-chr9:97846242..97848951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207864	Chromatin interaction
ENSG00000252153	Chromatin interaction
ENSG00000207617	Chromatin interaction
ENSG00000207563	Chromatin interaction
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10122127	1.00[JPT][hapmap]
rs1028843	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10512234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10512236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10732405	1.00[JPT][hapmap]
rs10993325	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10993329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10993337	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10993340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10993341	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10993349	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993351	1.00[JPT][hapmap]
rs10993360	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993362	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993363	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993364	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12336061	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12336308	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12336437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12337706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12337992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12338982	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12341764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12341814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12343530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12344157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12344256	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12345098	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12345321	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12345763	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12345783	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12346548	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12348060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12348206	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12351111	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12352600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12352856	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16911670	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16911713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2025793	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2304884	1.00[JPT][hapmap]
rs242259	1.00[JPT][hapmap]
rs34335636	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs356135	1.00[JPT][hapmap]
rs376902	1.00[JPT][hapmap]
rs3808890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3858088	1.00[JPT][hapmap]
rs41281168	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4744380	1.00[JPT][hapmap]
rs60048957	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60514919	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61446634	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7031172	1.00[JPT][hapmap]
rs7045387	1.00[JPT][hapmap]
rs7866487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7869666	1.00[JPT][hapmap]
rs925813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9987493	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9987549	0.85[AMR][1000 genomes]
rs9987803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97556800-97575800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:97563400-97584200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:97563600-97594400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr9:97563800-97579600	Weak transcription	Gastric	stomach
5	chr9:97563800-97584200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:97564000-97580000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:97564000-97589200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:97564200-97580400	Weak transcription	K562	blood
9	chr9:97565200-97587000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:97565400-97584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:97567400-97593400	Weak transcription	Thymus	Thymus
12	chr9:97567600-97579400	Weak transcription	Pancreas	Pancrea
13	chr9:97568200-97575800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:97568600-97581400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:97568600-97589000	Weak transcription	Liver	Liver
16	chr9:97568800-97581400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:97568800-97581400	Weak transcription	Fetal Brain Male	brain
18	chr9:97568800-97586800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:97569000-97575400	Weak transcription	Fetal Brain Female	brain
20	chr9:97569000-97580200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:97569000-97583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:97569000-97584200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:97569000-97584200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:97569200-97581200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:97569200-97586400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr9:97569200-97589000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:97569400-97579400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:97569400-97579400	Weak transcription	Ovary	ovary
29	chr9:97569400-97581200	Weak transcription	Stomach Mucosa	stomach
30	chr9:97569400-97581400	Weak transcription	Small Intestine	intestine
31	chr9:97569400-97587600	Weak transcription	Brain Germinal Matrix	brain
32	chr9:97569400-97589600	Weak transcription	Fetal Thymus	thymus
33	chr9:97569600-97579400	Weak transcription	Brain Substantia Nigra	brain
34	chr9:97569600-97581200	Weak transcription	Brain Anterior Caudate	brain
35	chr9:97569600-97581400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:97569600-97586200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr9:97569800-97579000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:97569800-97581400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:97570000-97579600	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:97570000-97594400	Weak transcription	Dnd41	blood
41	chr9:97570000-97601400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:97570200-97577400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:97570400-97590400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr9:97570600-97575800	Weak transcription	Lung	lung
45	chr9:97571200-97575600	Weak transcription	Right Atrium	heart
46	chr9:97571200-97579800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:97571400-97575600	Weak transcription	Aorta	Aorta
48	chr9:97571400-97575600	Weak transcription	Left Ventricle	heart
49	chr9:97571400-97579600	Weak transcription	Brain Angular Gyrus	brain
50	chr9:97571400-97580000	Weak transcription	Fetal Lung	lung

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