Variant report

Variant	rs3847311
Chromosome Location	chr9:97672725-97672726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
2	chr9:97621787..97623596-chr9:97671086..97673869,2	MCF-7	breast:
3	chr9:97666485..97669668-chr9:97669881..97673620,4	MCF-7	breast:
4	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
5	chr9:97672296..97674089-chr9:97674357..97675914,2	MCF-7	breast:
6	chr9:97591718..97593908-chr9:97672689..97674656,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction
ENSG00000230815	Chromatin interaction
ENSG00000252153	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10125566	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10217441	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10732407	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10739988	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10739990	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10739991	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761362	0.95[AMR][1000 genomes]
rs10761363	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10821407	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10821411	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993386	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1113967	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12551506	0.81[AMR][1000 genomes]
rs12552838	0.81[AMR][1000 genomes]
rs12554043	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12683896	0.81[AMR][1000 genomes]
rs1530331	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1542107	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1542108	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16911834	0.81[AMR][1000 genomes]
rs1904201	0.84[AMR][1000 genomes]
rs2026399	0.84[AMR][1000 genomes]
rs2095069	0.81[AMR][1000 genomes]
rs2119953	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2406897	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406898	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2897523	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3886568	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3910730	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4332191	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4743972	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4743973	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4744387	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4744389	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4744402	0.84[AMR][1000 genomes]
rs6479576	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6479578	0.85[EUR][1000 genomes]
rs6479579	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6479581	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6479582	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6479583	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66993340	0.84[AMR][1000 genomes]
rs67490803	0.81[AMR][1000 genomes]
rs7019602	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7022963	0.85[EUR][1000 genomes]
rs7025100	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7025934	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7026714	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7029570	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7030703	0.82[AMR][1000 genomes]
rs7031637	0.85[AMR][1000 genomes]
rs7035166	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7038519	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7044371	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7046900	0.81[AMR][1000 genomes]
rs72748601	0.81[AMR][1000 genomes]
rs7852844	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7864389	0.86[AMR][1000 genomes]
rs7867856	0.85[EUR][1000 genomes]
rs7869736	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7870679	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs894426	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs894427	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs894428	0.85[AMR][1000 genomes];0.87[EUR][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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97660800-97702400	Weak transcription	Primary B cells from cord blood	blood
2	chr9:97661600-97686200	Weak transcription	Primary T cells from cord blood	blood
3	chr9:97662400-97678600	Enhancers	Brain Substantia Nigra	brain
4	chr9:97662600-97680400	Enhancers	Brain Hippocampus Middle	brain
5	chr9:97664800-97673400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:97664800-97673400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:97664800-97674200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:97665200-97674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:97665400-97674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:97666000-97678600	Enhancers	Brain Cingulate Gyrus	brain
11	chr9:97666600-97674400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:97667400-97674600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:97667800-97675200	Enhancers	Brain Anterior Caudate	brain
14	chr9:97668000-97672800	Weak transcription	Brain Germinal Matrix	brain
15	chr9:97669000-97673000	Enhancers	Stomach Mucosa	stomach
16	chr9:97669000-97673600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:97669000-97675200	Enhancers	Fetal Lung	lung
18	chr9:97669000-97678200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:97669200-97678400	Enhancers	Fetal Heart	heart
20	chr9:97669600-97673000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr9:97669800-97678200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:97670000-97678600	Weak transcription	Fetal Thymus	thymus
23	chr9:97670200-97674800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:97670400-97674800	Weak transcription	HUVEC	blood vessel
25	chr9:97670600-97674600	Weak transcription	Left Ventricle	heart
26	chr9:97670600-97676400	Weak transcription	Right Ventricle	heart
27	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr9:97670800-97672800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:97670800-97672800	Weak transcription	NHLF	lung
30	chr9:97670800-97674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:97670800-97674200	Weak transcription	Placenta	Placenta
32	chr9:97670800-97674400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:97670800-97674600	Weak transcription	Psoas Muscle	Psoas
34	chr9:97670800-97675000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:97670800-97675800	Weak transcription	Fetal Intestine Large	intestine
36	chr9:97670800-97676000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr9:97670800-97676600	Weak transcription	Right Atrium	heart
38	chr9:97670800-97680600	Weak transcription	Ovary	ovary
39	chr9:97671000-97674400	Weak transcription	NHDF-Ad	bronchial
40	chr9:97671000-97674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:97671000-97676400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr9:97671000-97684200	Weak transcription	Small Intestine	intestine
43	chr9:97671200-97672800	Weak transcription	HepG2	liver
44	chr9:97671200-97673400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:97671200-97673800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr9:97671400-97673200	Weak transcription	HSMMtube	muscle
47	chr9:97671400-97674800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:97671400-97675600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr9:97671600-97674200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr9:97671600-97675400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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