Variant report

Variant	rs72756369
Chromosome Location	chr1:212770271-212770272
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212770069..212771738-chr1:212771928..212773855,2	K562	blood:
2	chr1:212730956..212733747-chr1:212768474..212770624,3	K562	blood:
3	chr1:212758746..212766071-chr1:212766312..212770844,12	K562	blood:
4	chr1:212729441..212732578-chr1:212767318..212772048,4	K562	blood:
5	chr1:212656733..212659516-chr1:212769214..212770797,2	MCF-7	breast:
6	chr1:212759858..212760453-chr1:212769908..212770590,2	K562	blood:

Variant related genes	Relation type
ENSG00000260805	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17019411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72756366	1.00[EUR][1000 genomes]

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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212766800-212771200	Enhancers	Placenta	Placenta
2	chr1:212767200-212770600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:212767400-212770400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:212767800-212770400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:212768000-212770400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:212768600-212770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:212768600-212771200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:212768600-212771200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:212768600-212771400	Enhancers	Fetal Intestine Small	intestine
10	chr1:212768800-212770400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:212768800-212770400	Enhancers	Fetal Thymus	thymus
12	chr1:212768800-212770400	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:212768800-212771200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:212768800-212771400	Enhancers	Fetal Intestine Large	intestine
15	chr1:212769000-212770400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:212769200-212770400	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:212769200-212770400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:212769200-212770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:212769600-212770400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:212769600-212770400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:212769600-212771000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:212769800-212770400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:212769800-212770400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:212769800-212770400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:212769800-212770400	Flanking Active TSS	HUVEC	blood vessel
26	chr1:212769800-212770400	Flanking Active TSS	NHEK	skin
27	chr1:212769800-212770400	Flanking Active TSS	Osteobl	bone
28	chr1:212769800-212771000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:212769800-212771200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:212770000-212770400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:212770000-212770400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:212770000-212770400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr1:212770000-212770400	Enhancers	Thymus	Thymus
34	chr1:212770000-212770400	Enhancers	Dnd41	blood
35	chr1:212770000-212770400	Enhancers	K562	blood
36	chr1:212770000-212770400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:212770000-212770400	Flanking Active TSS	NH-A	brain
38	chr1:212770000-212770400	Flanking Active TSS	NHLF	lung
39	chr1:212770200-212770400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:212770200-212770400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:212770200-212770400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:212770200-212770400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:212770200-212770400	Flanking Active TSS	HSMMtube	muscle
44	chr1:212770200-212770600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr1:212770200-212770600	Enhancers	HSMM	muscle
46	chr1:212770200-212771000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:212770200-212771000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:212770200-212771000	Enhancers	A549	lung
49	chr1:212770200-212771000	Enhancers	HMEC	breast
50	chr1:212770200-212771000	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links