Variant report

Variant	rs12378675
Chromosome Location	chr9:21838179-21838180
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:21836786..21838286-chr9:22208693..22210311,2	MCF-7	breast:
2	chr9:21830900..21838533-chr9:22079723..22086252,27	MCF-7	breast:
3	chr9:21831674..21838507-chr9:22079741..22086703,33	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10115601	0.92[ASN][1000 genomes]
rs10217131	0.82[CEU][hapmap]
rs10217379	0.89[CEU][hapmap]
rs10811624	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10965139	0.92[ASN][1000 genomes]
rs10965146	1.00[ASN][1000 genomes]
rs10965147	1.00[ASN][1000 genomes]
rs10965150	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337510	0.80[CEU][hapmap]
rs13300161	0.92[ASN][1000 genomes]
rs1544195	1.00[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185683	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375086	0.89[CEU][hapmap]
rs4543632	0.89[CEU][hapmap]
rs6475581	0.89[CEU][hapmap]
rs6475583	0.82[CEU][hapmap]
rs6475584	0.80[CEU][hapmap]
rs6475590	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851125	0.80[CEU][hapmap]
rs7860126	0.80[CEU][hapmap]
rs7867176	0.80[CEU][hapmap]
rs7871477	0.80[CEU][hapmap]
rs885518	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21804000-21838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:21806600-21841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:21814400-21845200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:21817800-21840600	Weak transcription	Colonic Mucosa	Colon
5	chr9:21818600-21840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:21818800-21840400	Weak transcription	Right Ventricle	heart
7	chr9:21819400-21840400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr9:21819400-21841600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:21823800-21840400	Strong transcription	Fetal Muscle Leg	muscle
10	chr9:21824200-21840400	Strong transcription	Fetal Lung	lung
11	chr9:21825000-21840000	Strong transcription	Fetal Intestine Large	intestine
12	chr9:21825000-21840600	Strong transcription	Dnd41	blood
13	chr9:21825000-21841800	Strong transcription	Primary T cells from cord blood	blood
14	chr9:21825000-21841800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr9:21825200-21840200	Weak transcription	Pancreas	Pancrea
16	chr9:21825200-21840800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr9:21825200-21841400	Strong transcription	Fetal Thymus	thymus
18	chr9:21825200-21842200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:21825400-21840400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:21825400-21840600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr9:21825800-21838600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr9:21825800-21840200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:21825800-21840600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:21825800-21840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:21826000-21838400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:21826000-21840800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:21828200-21838200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:21828200-21838800	Strong transcription	Fetal Intestine Small	intestine
29	chr9:21829400-21840000	Weak transcription	Spleen	Spleen
30	chr9:21831000-21840600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:21831800-21842000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:21832000-21840200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:21832200-21840400	Strong transcription	Ovary	ovary
34	chr9:21832200-21842000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr9:21832200-21852400	Weak transcription	Stomach Mucosa	stomach
36	chr9:21832400-21838600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:21832400-21840600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:21832400-21841800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr9:21832600-21841200	Weak transcription	Fetal Heart	heart
40	chr9:21833000-21840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:21833000-21841800	Strong transcription	Brain Hippocampus Middle	brain
42	chr9:21833000-21842000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr9:21833400-21842000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr9:21833600-21841800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:21833600-21841800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:21833800-21840400	Weak transcription	Gastric	stomach
47	chr9:21833800-21842000	Strong transcription	Liver	Liver
48	chr9:21833800-21843200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:21834000-21839600	Strong transcription	HepG2	liver
50	chr9:21834600-21840000	Weak transcription	Lung	lung

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