Variant report

Variant	rs561651281
Chromosome Location	chr1:9515451-9515452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9514768..9516687-chr1:9535496..9537861,2	K562	blood:
2	chr1:9240772..9242777-chr1:9514461..9516821,2	MCF-7	breast:
3	chr1:9348944..9349770-chr1:9515392..9516454,4	MCF-7	breast:
4	chr1:9351639..9354409-chr1:9515006..9516561,2	MCF-7	breast:
5	chr1:9514038..9515872-chr17:57919878..57922238,2	MCF-7	breast:
6	chr1:9352550..9354659-chr1:9512718..9515451,2	MCF-7	breast:
7	chr1:9327007..9327925-chr1:9515435..9516474,10	K562	blood:
8	chr1:9327410..9330706-chr1:9514370..9517487,3	K562	blood:

Variant related genes	Relation type
ENSG00000171621	Chromatin interaction
ENSG00000234546	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic 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	13 gene(s)	inside rSNPs	diseases
5	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1014975	chr1:9462254-9517118	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv534851	chr1:9462254-9517118	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	esv3359741	chr1:9511465-9515763	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv517755	chr1:9514846-9539693	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9510400-9516000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:9510600-9515600	Weak transcription	Fetal Thymus	thymus
3	chr1:9511800-9515800	Enhancers	HepG2	liver
4	chr1:9512200-9516400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:9512400-9516400	Enhancers	Pancreas	Pancrea
6	chr1:9512600-9516200	Enhancers	Ovary	ovary
7	chr1:9513000-9515600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:9513200-9515800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:9513800-9515600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:9513800-9515800	Weak transcription	Fetal Heart	heart
11	chr1:9513800-9516200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:9513800-9519800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:9513800-9533000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:9514000-9515800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:9514000-9516200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:9514000-9516400	Enhancers	Adipose Nuclei	Adipose
17	chr1:9514200-9515600	Weak transcription	Brain Angular Gyrus	brain
18	chr1:9514200-9519400	Weak transcription	Esophagus	oesophagus
19	chr1:9514600-9515800	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:9514600-9515800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:9514600-9516000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:9514600-9516400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr1:9514800-9515800	Weak transcription	Brain Substantia Nigra	brain
24	chr1:9514800-9516600	Enhancers	Liver	Liver
25	chr1:9515200-9516000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:9515200-9516200	Enhancers	Fetal Stomach	stomach
27	chr1:9515400-9515600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:9515400-9515600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:9515400-9515600	Enhancers	Osteobl	bone
30	chr1:9515400-9515800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:9515400-9516200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:9515400-9516400	Enhancers	Dnd41	blood

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