Variant report

Variant	rs11571541
Chromosome Location	chr1:212788476-212788477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212785851..212789357-chr1:212837777..212840991,5	K562	blood:
2	chr1:212780951..212783971-chr1:212784548..212788701,9	MCF-7	breast:
3	chr1:212729491..212744666-chr1:212778733..212791648,68	K562	blood:
4	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000260805	Chromatin interaction
ENSG00000237980	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17019573	1.00[MEX][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	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212783400-212790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:212783400-212791600	Weak transcription	Ovary	ovary
3	chr1:212783600-212792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:212784000-212792000	Weak transcription	Esophagus	oesophagus
5	chr1:212784000-212794200	Weak transcription	HUVEC	blood vessel
6	chr1:212784200-212788600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:212784200-212788600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:212784200-212789200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:212784200-212790400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:212784200-212796800	Weak transcription	Stomach Mucosa	stomach
11	chr1:212784400-212790200	Weak transcription	Dnd41	blood
12	chr1:212784400-212790400	Weak transcription	Colonic Mucosa	Colon
13	chr1:212784600-212788800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:212784800-212790400	Weak transcription	Brain Angular Gyrus	brain
15	chr1:212784800-212794800	Weak transcription	NH-A	brain
16	chr1:212785000-212788600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:212785000-212790200	Weak transcription	Psoas Muscle	Psoas
18	chr1:212785000-212797000	Weak transcription	Right Atrium	heart
19	chr1:212785000-212801000	Weak transcription	Fetal Heart	heart
20	chr1:212785400-212790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:212785400-212795600	Weak transcription	A549	lung
22	chr1:212785800-212792400	Weak transcription	Small Intestine	intestine
23	chr1:212786400-212794000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:212786600-212788800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:212786600-212790200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:212786600-212795200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:212786800-212791600	Weak transcription	Fetal Lung	lung
28	chr1:212787000-212794000	Strong transcription	Fetal Intestine Small	intestine
29	chr1:212787000-212794400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:212787200-212788600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:212787200-212788600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:212787200-212788600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:212787200-212788600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:212787200-212791600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:212787600-212788600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:212787600-212790000	Weak transcription	Spleen	Spleen
37	chr1:212787600-212792400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:212787600-212793800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:212787600-212793800	Strong transcription	Right Ventricle	heart
40	chr1:212787600-212793800	Strong transcription	K562	blood
41	chr1:212787600-212794400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:212787600-212794400	Strong transcription	NHLF	lung
43	chr1:212787600-212795000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:212787800-212788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:212787800-212788600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:212787800-212789000	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:212787800-212791600	Weak transcription	NHDF-Ad	bronchial
48	chr1:212788000-212794200	Strong transcription	Fetal Stomach	stomach
49	chr1:212788200-212788800	Genic enhancers	GM12878-XiMat	blood
50	chr1:212788200-212789000	Strong transcription	Osteobl	bone

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