Variant report

Variant	rs728034
Chromosome Location	chr12:22213119-22213120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22201346..22203294-chr12:22211554..22213223,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10841930	0.86[ASW][hapmap];0.82[LWK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12231360	0.90[ASN][1000 genomes]
rs4762870	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4762871	0.84[AMR][1000 genomes]
rs6416226	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6487267	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67295108	0.90[ASN][1000 genomes]
rs7138727	0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7138799	0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22200000-22214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:22200000-22218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:22200000-22220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:22200000-22220200	Weak transcription	Lung	lung
5	chr12:22200200-22215200	Weak transcription	HSMMtube	muscle
6	chr12:22200200-22215800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:22200200-22219600	Weak transcription	Aorta	Aorta
8	chr12:22200400-22216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:22200400-22220400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:22200800-22220800	Weak transcription	Fetal Heart	heart
11	chr12:22201400-22220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:22201800-22219000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:22202000-22218000	Weak transcription	Psoas Muscle	Psoas
14	chr12:22202000-22219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:22202000-22220200	Weak transcription	Fetal Brain Male	brain
16	chr12:22202200-22217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:22202200-22218000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:22202200-22223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:22203800-22220200	Weak transcription	Esophagus	oesophagus
20	chr12:22203800-22220200	Weak transcription	Small Intestine	intestine
21	chr12:22203800-22235200	Weak transcription	Gastric	stomach
22	chr12:22204000-22215400	Weak transcription	Brain Angular Gyrus	brain
23	chr12:22204400-22215400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:22204600-22219400	Weak transcription	Stomach Mucosa	stomach
25	chr12:22204600-22223400	Weak transcription	Pancreas	Pancrea
26	chr12:22205200-22222200	Weak transcription	Fetal Intestine Small	intestine
27	chr12:22207000-22218400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:22207000-22220200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:22207600-22218800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:22207600-22219400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:22207800-22219000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:22208000-22219600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:22208000-22219800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:22208000-22219800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:22208200-22216800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr12:22208200-22217000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:22208400-22214400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:22208400-22216200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:22208400-22216200	Strong transcription	Fetal Thymus	thymus
40	chr12:22208400-22219600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr12:22208400-22219800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:22208400-22220800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:22208600-22213600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr12:22208600-22216200	Strong transcription	K562	blood
45	chr12:22208600-22219800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:22208800-22213200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:22208800-22213400	Strong transcription	Primary T cells from cord blood	blood
48	chr12:22208800-22220400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:22209000-22217000	Strong transcription	HUVEC	blood vessel
50	chr12:22209800-22215200	Weak transcription	GM12878-XiMat	blood

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