Variant report

Variant	rs57560345
Chromosome Location	chr1:161156906-161156907
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161152801..161154377-chr1:161155366..161157317,2	MCF-7	breast:
2	chr1:161151959..161155347-chr1:161155408..161158666,4	K562	blood:
3	chr1:161155867..161158709-chr1:161165222..161166749,2	K562	blood:
4	chr1:161139949..161143125-chr1:161156905..161159223,3	K562	blood:
5	chr1:161152355..161156919-chr1:161160220..161163172,6	K562	blood:
6	chr1:161155892..161157457-chr1:161168273..161170440,2	MCF-7	breast:
7	chr1:161154836..161159906-chr1:161168588..161174016,8	K562	blood:

Variant related genes	Relation type
ENSG00000158859	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000158864	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34887199	1.00[AMR][1000 genomes]
rs55675252	0.84[AFR][1000 genomes]
rs55880062	1.00[AMR][1000 genomes]
rs56758346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61642842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124643	0.83[AFR][1000 genomes]
rs74124646	0.83[AFR][1000 genomes]
rs74124647	0.84[AFR][1000 genomes]
rs74124650	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124652	1.00[AMR][1000 genomes]
rs74124653	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124672	1.00[AMR][1000 genomes]
rs74124691	1.00[AMR][1000 genomes]
rs74124697	1.00[AMR][1000 genomes]
rs74127620	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161147800-161160600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:161147800-161167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:161148200-161160400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:161148200-161160400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:161148200-161161000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:161148200-161162400	Weak transcription	Liver	Liver
7	chr1:161148200-161162600	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:161148200-161167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:161148400-161161200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:161148400-161165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:161150600-161158400	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:161150600-161159400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:161150600-161162000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:161151800-161157600	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:161152000-161158600	Enhancers	Fetal Thymus	thymus
16	chr1:161152600-161157800	Enhancers	Adipose Nuclei	Adipose
17	chr1:161153200-161160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:161153200-161166000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:161153200-161167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:161153800-161157000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:161153800-161157800	Enhancers	Brain Substantia Nigra	brain
22	chr1:161153800-161159400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:161154000-161157600	Enhancers	Brain Hippocampus Middle	brain
24	chr1:161154000-161160800	Weak transcription	Ovary	ovary
25	chr1:161154000-161161000	Weak transcription	Gastric	stomach
26	chr1:161154200-161157600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:161154200-161158800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:161154400-161157600	Enhancers	Brain Angular Gyrus	brain
29	chr1:161154400-161157600	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:161154400-161159600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:161154600-161159600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:161154800-161159800	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:161155200-161157800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:161155200-161158600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:161155200-161158800	Enhancers	Placenta	Placenta
36	chr1:161155200-161160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:161155400-161157600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr1:161155400-161157600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:161155400-161161000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:161155600-161157600	Enhancers	Right Atrium	heart
41	chr1:161155600-161158400	Enhancers	Spleen	Spleen
42	chr1:161155600-161159800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:161155600-161160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:161155800-161157600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:161155800-161157600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:161155800-161158600	Enhancers	Primary B cells from cord blood	blood
47	chr1:161155800-161159600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr1:161155800-161159600	Weak transcription	Fetal Stomach	stomach
49	chr1:161155800-161159800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:161155800-161160400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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