Variant report

Variant	rs60977635
Chromosome Location	chr1:226006790-226006791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225964451..225968253-chr1:226004384..226007160,4	K562	blood:
2	chr1:225965233..225968253-chr1:226004557..226007160,3	K562	blood:
3	chr1:225965293..225968073-chr1:226004323..226008130,4	MCF-7	breast:
4	chr1:225991700..225994994-chr1:226006068..226008999,3	K562	blood:
5	chr1:225999526..226002981-chr1:226005681..226008708,3	MCF-7	breast:
6	chr1:226004285..226007407-chr1:226008778..226014958,9	K562	blood:
7	chr1:226005737..226007634-chr1:226011731..226014314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction
ENSG00000143819	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12093546	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12098136	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57777224	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3419876	chr1:226006558-226007066	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3409265	chr1:226006654-226007025	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv159413	chr1:226006766-226006944	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1580917	chr1:226006778-226006957	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225998400-226007800	Enhancers	Spleen	Spleen
2	chr1:225999400-226007800	Enhancers	Left Ventricle	heart
3	chr1:226000000-226019400	Weak transcription	Fetal Brain Female	brain
4	chr1:226000400-226007400	Enhancers	Brain Anterior Caudate	brain
5	chr1:226000400-226015800	Enhancers	Ovary	ovary
6	chr1:226001800-226006800	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:226001800-226010200	Enhancers	HepG2	liver
8	chr1:226001800-226019200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:226003200-226007600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr1:226003800-226008800	Enhancers	Fetal Stomach	stomach
11	chr1:226004000-226007600	Enhancers	Pancreas	Pancrea
12	chr1:226004600-226009400	Enhancers	Fetal Lung	lung
13	chr1:226004800-226007800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:226005200-226006800	Enhancers	Right Atrium	heart
15	chr1:226005200-226008600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:226005400-226007200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:226005400-226007800	Enhancers	Adipose Nuclei	Adipose
18	chr1:226005600-226012000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:226005600-226019400	Weak transcription	Brain Germinal Matrix	brain
20	chr1:226005800-226007200	Strong transcription	Fetal Intestine Small	intestine
21	chr1:226005800-226007800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:226005800-226008200	Enhancers	Liver	Liver
23	chr1:226005800-226008600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:226005800-226009400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:226005800-226010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:226005800-226011600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:226005800-226012000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:226005800-226012400	Weak transcription	Placenta	Placenta
29	chr1:226005800-226013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:226005800-226013400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:226005800-226019200	Weak transcription	NHLF	lung
32	chr1:226005800-226019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:226005800-226019400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:226006000-226007200	Weak transcription	Fetal Heart	heart
35	chr1:226006000-226008400	Weak transcription	HMEC	breast
36	chr1:226006000-226011200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:226006200-226007200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:226006200-226007200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:226006200-226007200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:226006200-226007600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:226006200-226008200	Weak transcription	K562	blood
42	chr1:226006200-226008400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:226006200-226009400	Enhancers	Stomach Mucosa	stomach
44	chr1:226006200-226010400	Genic enhancers	A549	lung
45	chr1:226006200-226011200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:226006200-226013200	Weak transcription	HSMMtube	muscle
47	chr1:226006200-226013600	Weak transcription	Small Intestine	intestine
48	chr1:226006200-226016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:226006200-226019400	Weak transcription	HSMM	muscle
50	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial

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