Variant report

Variant	rs2994365
Chromosome Location	chr9:96374374-96374375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
2	chr9:96338137..96340211-chr9:96373633..96375791,2	K562	blood:

Variant related genes	Relation type
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10821170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10821171	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10821172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10821177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10992796	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs13290276	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13296529	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17533702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2254712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2265300	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2265574	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2265575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2265576	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2989752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2989753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2989755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2989756	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2994369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2994370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4073155	0.92[CHB][hapmap];0.95[JPT][hapmap]
rs4743929	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4744255	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4744258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4744259	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56351334	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs62573991	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62574558	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs928368	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9409477	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824984	chr9:96310933-96375022	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1040891	chr9:96361529-96397338	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1044461	chr9:96362048-96397338	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv893585	chr9:96363859-96403367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1055035	chr9:96372269-96402747	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2994365	FAM120AOS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96361400-96380400	Weak transcription	Fetal Brain Male	brain
3	chr9:96361600-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:96363200-96374600	Weak transcription	Gastric	stomach
5	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:96363800-96374400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:96364200-96380600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:96366000-96374600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:96366200-96375000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:96366400-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
13	chr9:96372600-96374600	Weak transcription	Dnd41	blood
14	chr9:96372800-96374400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:96372800-96376000	Weak transcription	Right Ventricle	heart
16	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:96373000-96377200	Enhancers	Psoas Muscle	Psoas
18	chr9:96373000-96379400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr9:96373200-96376000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr9:96373400-96374400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr9:96373400-96375000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:96373400-96375000	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:96373400-96375000	Weak transcription	Fetal Thymus	thymus
24	chr9:96373400-96375200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:96373400-96375200	Weak transcription	Fetal Intestine Small	intestine
26	chr9:96373400-96377000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr9:96373400-96379400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:96373400-96379400	Weak transcription	Brain Anterior Caudate	brain
29	chr9:96373400-96379400	Weak transcription	Fetal Intestine Large	intestine
30	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
32	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
33	chr9:96373600-96379400	Weak transcription	Brain Germinal Matrix	brain
34	chr9:96373800-96379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:96374000-96375400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr9:96374200-96374400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr9:96374200-96374400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:96374200-96374800	Enhancers	Fetal Stomach	stomach
39	chr9:96374200-96375000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:96374200-96375000	Enhancers	Liver	Liver
41	chr9:96374200-96375600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr9:96374200-96376400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:96374200-96376600	Enhancers	Skeletal Muscle Female	skeletal muscle

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