Variant report

Variant	rs10993435
Chromosome Location	chr9:97744349-97744350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97741635..97744525-chr9:97765545..97768244,3	K562	blood:
2	chr9:97740253..97742678-chr9:97742723..97744837,2	MCF-7	breast:
3	chr9:97744231..97746948-chr9:97752217..97755192,2	MCF-7	breast:
4	chr9:97734614..97737497-chr9:97742689..97744554,2	MCF-7	breast:
5	chr9:97739328..97741298-chr9:97743641..97746180,2	K562	blood:
6	chr9:97742880..97744753-chr9:97762967..97764495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10761364	0.81[CHB][hapmap]
rs10993427	0.83[CHB][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs10993439	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12551506	1.00[CEU][hapmap]
rs12554043	1.00[CEU][hapmap]
rs1564234	0.83[CHB][hapmap]
rs16911886	0.91[JPT][hapmap]
rs1904201	1.00[CEU][hapmap]
rs2026399	1.00[CEU][hapmap]
rs2095069	1.00[CEU][hapmap]
rs2404295	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs2404296	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2404302	0.83[CHB][hapmap]
rs2896816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3802454	0.83[CHB][hapmap]
rs3802456	0.83[CHB][hapmap]
rs4744423	0.83[CHB][hapmap]
rs4744431	0.81[CHB][hapmap]
rs7023719	0.93[CHB][hapmap]
rs7029570	1.00[CEU][hapmap]
rs7042271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7848018	0.90[JPT][hapmap]
rs7851173	0.81[CHB][hapmap]
rs7866661	0.90[JPT][hapmap]

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	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97713800-97757400	Weak transcription	Fetal Brain Female	brain
3	chr9:97715000-97758200	Weak transcription	Spleen	Spleen
4	chr9:97715200-97748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:97715400-97749600	Weak transcription	Thymus	Thymus
6	chr9:97719000-97745800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:97719400-97746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:97719400-97747000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:97719600-97747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:97728000-97754200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:97733400-97757600	Weak transcription	Esophagus	oesophagus
12	chr9:97734600-97757600	Weak transcription	Gastric	stomach
13	chr9:97734800-97747200	Weak transcription	Right Atrium	heart
14	chr9:97736200-97748000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:97736600-97747000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:97736600-97757200	Weak transcription	NH-A	brain
17	chr9:97736600-97757400	Weak transcription	NHLF	lung
18	chr9:97736600-97757600	Weak transcription	Adipose Nuclei	Adipose
19	chr9:97736600-97757600	Weak transcription	Osteobl	bone
20	chr9:97736600-97766200	Weak transcription	Right Ventricle	heart
21	chr9:97737000-97757200	Weak transcription	Fetal Heart	heart
22	chr9:97737000-97758200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:97738000-97747200	Weak transcription	Pancreas	Pancrea
24	chr9:97738000-97757600	Weak transcription	Lung	lung
25	chr9:97738200-97757600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:97738600-97745200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:97738600-97745600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:97738600-97749200	Weak transcription	Ovary	ovary
29	chr9:97738600-97753600	Weak transcription	Fetal Lung	lung
30	chr9:97738600-97757200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:97738600-97757400	Weak transcription	Left Ventricle	heart
32	chr9:97738600-97757600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr9:97738800-97754800	Weak transcription	NHDF-Ad	bronchial
34	chr9:97739600-97744400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr9:97740000-97745800	Weak transcription	A549	lung
36	chr9:97740200-97758200	Weak transcription	Placenta	Placenta
37	chr9:97741200-97758200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:97742000-97744400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:97742000-97746600	Weak transcription	HSMM	muscle
40	chr9:97742200-97744600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:97742200-97744800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:97742400-97744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr9:97742400-97744800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:97742400-97744800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:97742400-97753000	Weak transcription	Fetal Intestine Large	intestine
46	chr9:97742600-97744400	Enhancers	Fetal Kidney	kidney
47	chr9:97742600-97744800	Weak transcription	Liver	Liver
48	chr9:97742600-97757400	Weak transcription	Psoas Muscle	Psoas
49	chr9:97742600-97763200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:97742800-97744400	Enhancers	Brain Cingulate Gyrus	brain

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