Variant report

Variant	rs73085420
Chromosome Location	chr1:215749393-215749394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215748231..215751011-chr1:215755811..215758179,2	MCF-7	breast:
2	chr1:215749324..215751744-chr1:215787011..215788555,2	K562	blood:
3	chr1:215748835..215751621-chr1:215772541..215775026,2	K562	blood:
4	chr1:215749230..215750934-chr1:215753151..215755026,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs59214288	1.00[AFR][1000 genomes]
rs59654382	1.00[AFR][1000 genomes]
rs60427287	0.86[AFR][1000 genomes]
rs6695032	0.87[AFR][1000 genomes]
rs73083424	1.00[AFR][1000 genomes]
rs73083434	1.00[AFR][1000 genomes]
rs73083440	0.87[AFR][1000 genomes]
rs73083442	0.87[AFR][1000 genomes]
rs73083444	0.87[AFR][1000 genomes]
rs73083463	0.87[AFR][1000 genomes]
rs73083482	0.87[AFR][1000 genomes]
rs73083485	0.87[AFR][1000 genomes]
rs73083488	0.87[AFR][1000 genomes]
rs73085431	0.86[AFR][1000 genomes]
rs73085432	0.86[AFR][1000 genomes]
rs73085444	1.00[AFR][1000 genomes]
rs73085451	1.00[AFR][1000 genomes]
rs73085460	1.00[AFR][1000 genomes]
rs73085461	0.86[AFR][1000 genomes]
rs73087422	1.00[AFR][1000 genomes]
rs73087434	0.86[AFR][1000 genomes]
rs73087436	0.86[AFR][1000 genomes]
rs73087456	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741600-215749400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:215741800-215749400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:215741800-215749400	Weak transcription	Lung	lung
4	chr1:215741800-215786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
6	chr1:215742000-215749400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:215742000-215756000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:215742000-215786400	Weak transcription	Thymus	Thymus
9	chr1:215742200-215749600	Weak transcription	Fetal Thymus	thymus
10	chr1:215742200-215767600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:215742200-215786400	Weak transcription	Primary T cells from cord blood	blood
12	chr1:215742400-215749400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:215742400-215752600	Weak transcription	HSMMtube	muscle
14	chr1:215742400-215757800	Weak transcription	Dnd41	blood
15	chr1:215742600-215749600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:215742800-215749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:215742800-215749400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:215742800-215749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:215742800-215749400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:215742800-215749400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:215742800-215749400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:215742800-215749400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:215742800-215751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:215742800-215754600	Weak transcription	Spleen	Spleen
25	chr1:215742800-215756600	Weak transcription	Primary B cells from cord blood	blood
26	chr1:215743000-215749400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:215743000-215749400	Weak transcription	Placenta	Placenta
28	chr1:215743000-215772400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:215743200-215749400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:215743200-215785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:215743600-215749400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:215743600-215755400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:215743800-215756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:215744000-215749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:215744000-215749400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:215744200-215749400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:215744200-215749400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:215744200-215750400	Weak transcription	Fetal Kidney	kidney
39	chr1:215744200-215767400	Weak transcription	Fetal Brain Male	brain
40	chr1:215744400-215749600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:215744400-215750000	Weak transcription	NH-A	brain
42	chr1:215744400-215754800	Weak transcription	Fetal Brain Female	brain
43	chr1:215744400-215767600	Weak transcription	NHLF	lung
44	chr1:215744600-215749600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:215744600-215750400	Weak transcription	HMEC	breast
46	chr1:215744800-215749400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:215744800-215749400	Weak transcription	Osteobl	bone
48	chr1:215744800-215750800	Weak transcription	HSMM	muscle
49	chr1:215744800-215751200	Weak transcription	HUVEC	blood vessel
50	chr1:215745000-215750400	Weak transcription	Fetal Lung	lung

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