Variant report

Variant	rs72861457
Chromosome Location	chr1:10178346-10178347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10175653..10178432-chr1:10186324..10189198,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17034493	0.89[ASN][1000 genomes]
rs17034569	1.00[EUR][1000 genomes]
rs41310363	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4388708	0.81[ASN][1000 genomes]
rs61760196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72861408	0.82[ASN][1000 genomes]
rs72861422	0.89[ASN][1000 genomes]
rs72861493	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72864116	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72864129	1.00[EUR][1000 genomes]
rs72864132	1.00[EUR][1000 genomes]
rs72864158	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr1:10145400-10189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:10145800-10197000	Weak transcription	Stomach Mucosa	stomach
3	chr1:10154800-10183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:10166200-10179200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:10166600-10181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:10167000-10181800	Weak transcription	A549	lung
9	chr1:10167200-10179200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:10167400-10181600	Weak transcription	Fetal Brain Male	brain
11	chr1:10167400-10188400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:10167400-10192600	Weak transcription	Small Intestine	intestine
13	chr1:10167600-10179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:10167600-10181600	Weak transcription	Right Ventricle	heart
15	chr1:10167600-10190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:10167600-10207400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:10167800-10184000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:10169000-10179200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:10169000-10179200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:10169000-10182400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:10169200-10181600	Weak transcription	HMEC	breast
22	chr1:10169400-10179400	Weak transcription	HSMM	muscle
23	chr1:10169400-10180400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:10169400-10195000	Weak transcription	Aorta	Aorta
25	chr1:10169600-10179200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:10169600-10181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:10169600-10181800	Weak transcription	Hela-S3	cervix
28	chr1:10169800-10181800	Weak transcription	Fetal Heart	heart
29	chr1:10170200-10187000	Weak transcription	HUVEC	blood vessel
30	chr1:10170400-10179400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:10170600-10180200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:10171000-10180200	Strong transcription	Adipose Nuclei	Adipose
33	chr1:10171400-10179400	Weak transcription	Colonic Mucosa	Colon
34	chr1:10171600-10179200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:10171600-10179200	Weak transcription	Fetal Kidney	kidney
36	chr1:10171600-10179400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:10171800-10179200	Weak transcription	Esophagus	oesophagus
38	chr1:10172000-10188200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:10172800-10180000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:10172800-10180200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:10172800-10180400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:10172800-10182400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:10172800-10182600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:10172800-10183400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:10173000-10180000	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:10173000-10182600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:10173000-10185200	Strong transcription	Fetal Intestine Large	intestine
48	chr1:10173000-10199400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:10173200-10180000	Strong transcription	Fetal Thymus	thymus
50	chr1:10173200-10183200	Strong transcription	Placenta	Placenta

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