Variant report

Variant	rs7555241
Chromosome Location	chr1:227955266-227955267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227948805..227951027-chr1:227953567..227955861,2	MCF-7	breast:
2	chr1:227951099..227952899-chr1:227953091..227955822,2	K562	blood:
3	chr1:227954027..227955528-chr1:228133802..228136651,2	MCF-7	breast:
4	chr1:227948352..227950485-chr1:227952945..227955700,2	MCF-7	breast:
5	chr1:227953908..227955707-chr1:227958879..227960406,2	K562	blood:

Variant related genes	Relation type
ENSG00000143816	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12064596	0.95[CHB][hapmap]
rs13376549	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs16848112	0.95[CHB][hapmap]
rs2031132	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs2093611	0.81[CHB][hapmap]
rs2236358	0.90[CHB][hapmap]
rs6674275	0.95[CHB][hapmap]
rs6679352	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap]
rs6704268	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs9651013	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3359559	chr1:227953029-227957427	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3331526	chr1:227953729-227956727	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3388809	chr1:227953729-227956927	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227946000-227960400	Strong transcription	Fetal Brain Female	brain
2	chr1:227947800-227955400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:227948400-227955400	Weak transcription	Psoas Muscle	Psoas
4	chr1:227948400-227956000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:227948600-227955600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:227949200-227956000	Genic enhancers	Fetal Thymus	thymus
7	chr1:227949600-227955400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:227949600-227955600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:227950800-227963000	Strong transcription	Brain Germinal Matrix	brain
10	chr1:227950800-227974200	Weak transcription	Small Intestine	intestine
11	chr1:227951000-227958600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:227951000-227963200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:227951200-227956600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:227951200-227974400	Weak transcription	Right Atrium	heart
15	chr1:227951400-227963200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:227951600-227961800	Strong transcription	Fetal Stomach	stomach
17	chr1:227951600-227963600	Weak transcription	HUVEC	blood vessel
18	chr1:227951800-227958600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:227951800-227970600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:227952000-227959000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:227952000-227962000	Weak transcription	NHDF-Ad	bronchial
22	chr1:227952200-227955400	Weak transcription	Hela-S3	cervix
23	chr1:227952200-227960200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:227952200-227962400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:227952600-227958400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:227952800-227956800	Strong transcription	GM12878-XiMat	blood
27	chr1:227952800-227957000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:227952800-227957000	Strong transcription	Aorta	Aorta
29	chr1:227952800-227957800	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr1:227953000-227955600	Genic enhancers	Gastric	stomach
31	chr1:227953000-227955600	Genic enhancers	Spleen	Spleen
32	chr1:227953200-227957000	Genic enhancers	Fetal Intestine Large	intestine
33	chr1:227953200-227959800	Strong transcription	NHLF	lung
34	chr1:227953200-227960400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:227953400-227957000	Genic enhancers	Fetal Intestine Small	intestine
36	chr1:227953600-227955600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:227953600-227958800	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr1:227953600-227958800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:227953800-227955600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:227953800-227955600	Genic enhancers	Duodenum Mucosa	Duodenum
41	chr1:227953800-227956000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:227953800-227956000	Genic enhancers	Lung	lung
43	chr1:227954000-227955600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:227954000-227956600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:227954000-227957600	Weak transcription	Stomach Mucosa	stomach
46	chr1:227954000-227958000	Genic enhancers	Fetal Muscle Leg	muscle
47	chr1:227954000-227958200	Strong transcription	Rectal Smooth Muscle	rectum
48	chr1:227954000-227958800	Strong transcription	HSMMtube	muscle
49	chr1:227954000-227959800	Strong transcription	Dnd41	blood
50	chr1:227954000-227962600	Strong transcription	Adipose Nuclei	Adipose

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