Variant report

Variant	rs1323521
Chromosome Location	chr9:100867875-100867876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59915399..59917132-chr9:100865983..100868318,2	MCF-7	breast:
2	chr9:100866980..100869660-chr9:100895040..100897583,2	MCF-7	breast:
3	chr9:100865961..100868897-chr9:100875426..100877165,2	MCF-7	breast:
4	chr9:100865376..100868283-chr9:100880177..100883059,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106785	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10984930	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10984961	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10985045	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10985049	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10985050	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12554318	0.82[EUR][1000 genomes]
rs12554940	0.85[EUR][1000 genomes]
rs17806613	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2181583	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2417728	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs734769	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1040483	chr9:100835325-100868437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv614935	chr9:100861387-100876284	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100847400-100869400	Weak transcription	A549	lung
2	chr9:100850400-100868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:100850400-100880400	Weak transcription	HSMM	muscle
4	chr9:100850600-100875400	Weak transcription	NHLF	lung
5	chr9:100850600-100880600	Weak transcription	Fetal Lung	lung
6	chr9:100854600-100870800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:100854800-100870800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:100855000-100868200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:100857800-100869400	Weak transcription	Left Ventricle	heart
10	chr9:100858200-100868000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:100858200-100869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:100858400-100872000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:100858600-100880400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:100858600-100880400	Weak transcription	Brain Anterior Caudate	brain
15	chr9:100859200-100880600	Weak transcription	Gastric	stomach
16	chr9:100860000-100869000	Strong transcription	Fetal Intestine Small	intestine
17	chr9:100860200-100880800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:100860600-100868000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:100861400-100868000	Enhancers	Primary hematopoietic stem cells	blood
20	chr9:100861400-100871800	Enhancers	Primary B cells from peripheral blood	blood
21	chr9:100861400-100880600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:100862200-100872200	Enhancers	Primary B cells from cord blood	blood
23	chr9:100862200-100872400	Weak transcription	Esophagus	oesophagus
24	chr9:100862400-100869000	Weak transcription	K562	blood
25	chr9:100862400-100869600	Weak transcription	Adipose Nuclei	Adipose
26	chr9:100862400-100871800	Weak transcription	HMEC	breast
27	chr9:100862400-100880000	Weak transcription	Small Intestine	intestine
28	chr9:100862400-100880600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:100862600-100869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:100864600-100871000	Weak transcription	NHEK	skin
31	chr9:100864600-100880400	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:100864600-100880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:100864800-100868000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:100864800-100869000	Weak transcription	Brain Germinal Matrix	brain
35	chr9:100864800-100869200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:100864800-100869600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:100864800-100871600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:100865000-100870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:100865000-100870800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:100865000-100871800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:100865000-100872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr9:100865200-100868200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr9:100866200-100868600	Strong transcription	Liver	Liver
44	chr9:100866200-100869600	Genic enhancers	Thymus	Thymus
45	chr9:100866200-100870400	Strong transcription	HepG2	liver
46	chr9:100866200-100872800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:100866200-100872800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:100866200-100873000	Genic enhancers	Fetal Thymus	thymus
49	chr9:100866200-100874000	Strong transcription	Fetal Intestine Large	intestine
50	chr9:100866400-100868000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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