Variant report

Variant	rs12038548
Chromosome Location	chr1:10643197-10643198
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	chr1:10629269..10631572-chr1:10641133..10643624,2	K562	blood:
2	chr1:10638213..10640630-chr1:10641912..10644179,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12741973	0.82[CHB][hapmap]
rs2506902	0.82[CHB][hapmap]
rs2781230	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1015079	chr1:10611403-10645176	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1009596	chr1:10626249-10652605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv517464	chr1:10638604-10643197	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818777	chr1:10638604-10643197	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:10623600-10645600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:10624800-10646000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:10628000-10650200	Weak transcription	Fetal Lung	lung
7	chr1:10628400-10661600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:10628800-10651200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:10629800-10643600	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:10629800-10659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:10631800-10659200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:10635800-10650800	Weak transcription	HSMMtube	muscle
14	chr1:10636000-10650600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:10636200-10655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:10636200-10656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:10636400-10656200	Weak transcription	NHEK	skin
18	chr1:10636600-10658000	Weak transcription	Spleen	Spleen
19	chr1:10637400-10652200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:10637400-10659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:10638400-10645000	Weak transcription	Liver	Liver
22	chr1:10638400-10657400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:10638400-10661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:10638600-10651600	Weak transcription	Left Ventricle	heart
25	chr1:10638600-10661600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:10638800-10644600	Weak transcription	HepG2	liver
27	chr1:10639000-10643800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:10639000-10651200	Weak transcription	HSMM	muscle
29	chr1:10639000-10652800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:10639200-10643200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:10639200-10650600	Weak transcription	A549	lung
32	chr1:10639800-10659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:10640400-10656600	Weak transcription	Placenta	Placenta
34	chr1:10641400-10643600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:10641400-10643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:10641400-10644000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:10642400-10643200	Strong transcription	Primary T cells from cord blood	blood

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