Variant report

Variant	rs12328448
Chromosome Location	chr2:74215701-74215702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74214172..74215724-chr2:74245969..74248555,2	MCF-7	breast:
2	chr2:74075685..74077271-chr2:74214130..74216344,2	K562	blood:
3	chr2:74215681..74218530-chr2:74336371..74337878,2	MCF-7	breast:
4	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
5	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
6	chr2:74214395..74216353-chr2:74293422..74296329,2	MCF-7	breast:
7	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10166873	0.93[AMR][1000 genomes]
rs10197238	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201998	0.83[EUR][1000 genomes]
rs10207365	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207954	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903339	0.83[EUR][1000 genomes]
rs2272165	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421442	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4852999	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546883	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714060	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74212800-74215800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr2:74212800-74216000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr2:74213000-74215800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:74213000-74216000	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr2:74213000-74216000	Flanking Active TSS	Hela-S3	cervix
6	chr2:74213000-74216400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:74213000-74216400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:74213200-74215800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:74213200-74215800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
10	chr2:74213200-74215800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr2:74213200-74215800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr2:74213200-74215800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:74213200-74215800	Enhancers	Brain Angular Gyrus	brain
14	chr2:74213200-74215800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
15	chr2:74213200-74216000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:74213200-74216400	Transcr. at gene 5' and 3'	NHEK	skin
17	chr2:74213200-74216600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:74213200-74216600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:74213200-74217200	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr2:74213200-74218000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr2:74213400-74216000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
22	chr2:74213400-74216000	Transcr. at gene 5' and 3'	K562	blood
23	chr2:74213400-74216400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:74213400-74216800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:74213400-74216800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:74213400-74216800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:74213400-74220400	Weak transcription	HSMMtube	muscle
28	chr2:74213600-74215800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:74213600-74216000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:74214000-74215800	Flanking Active TSS	Fetal Brain Male	brain
31	chr2:74214200-74215800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr2:74214200-74215800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:74214200-74215800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:74214200-74215800	Flanking Active TSS	HMEC	breast
35	chr2:74214400-74215800	Enhancers	Colon Smooth Muscle	Colon
36	chr2:74214400-74215800	Flanking Active TSS	Gastric	stomach
37	chr2:74214400-74216000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:74214400-74216800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:74214800-74215800	Enhancers	Ovary	ovary
40	chr2:74214800-74216000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:74214800-74216000	Enhancers	NH-A	brain
42	chr2:74214800-74217000	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr2:74215000-74215800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:74215000-74215800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
45	chr2:74215000-74215800	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr2:74215000-74215800	Enhancers	Right Atrium	heart
47	chr2:74215000-74215800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:74215000-74216000	Enhancers	Liver	Liver
49	chr2:74215000-74216000	Flanking Active TSS	Fetal Brain Female	brain
50	chr2:74215000-74216000	Enhancers	Small Intestine	intestine

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