Variant report

Variant	rs7578035
Chromosome Location	chr2:99382892-99382893
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99379234..99380844-chr2:99381861..99384498,2	MCF-7	breast:
2	chr2:99373556..99376525-chr2:99380957..99383343,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10189330	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs12615689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12999225	0.89[EUR][1000 genomes]
rs13000014	0.92[CEU][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7561818	0.89[CEU][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7573844	0.92[CEU][hapmap];0.80[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7581128	0.89[EUR][1000 genomes]
rs7581349	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7582382	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs9308815	0.84[EUR][1000 genomes]

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bipolar disorder	21926972	GWAS catalog

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99373800-99388000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:99374600-99383000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:99374600-99383200	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:99375200-99386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:99375200-99386400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:99376800-99384600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:99377000-99385000	Weak transcription	Spleen	Spleen
8	chr2:99377000-99386400	Weak transcription	Esophagus	oesophagus
9	chr2:99377800-99383800	Weak transcription	HUVEC	blood vessel
10	chr2:99378400-99383200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:99378400-99385000	Weak transcription	Lung	lung
12	chr2:99378400-99385000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:99378400-99389400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:99378800-99388200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:99379200-99388200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:99379400-99385000	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:99379400-99385200	Weak transcription	Fetal Brain Male	brain
18	chr2:99379400-99385200	Weak transcription	Right Atrium	heart
19	chr2:99379400-99386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:99379400-99388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:99379800-99383200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr2:99379800-99384800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:99380200-99383600	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:99380600-99387400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:99380600-99387400	Weak transcription	Adipose Nuclei	Adipose
26	chr2:99380800-99383800	Enhancers	Fetal Thymus	thymus
27	chr2:99381000-99386200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:99382000-99383000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:99382000-99385000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:99382000-99386200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:99382000-99386800	Enhancers	GM12878-XiMat	blood
32	chr2:99382200-99383600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:99382200-99385400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:99382200-99385400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:99382200-99385600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:99382200-99386400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:99382200-99386400	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:99382400-99383800	Genic enhancers	Dnd41	blood
39	chr2:99382400-99384200	Enhancers	Fetal Intestine Large	intestine
40	chr2:99382400-99384200	Enhancers	Fetal Intestine Small	intestine
41	chr2:99382400-99384800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:99382400-99385400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:99382400-99386200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:99382400-99386200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:99382600-99383400	Flanking Active TSS	HepG2	liver
46	chr2:99382600-99383800	Weak transcription	Small Intestine	intestine
47	chr2:99382600-99384000	Enhancers	Pancreas	Pancrea
48	chr2:99382600-99385200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:99382600-99385400	Enhancers	Primary T cells from cord blood	blood
50	chr2:99382600-99386200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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