Variant report

Variant	rs73068985
Chromosome Location	chr1:185645210-185645211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185625665..185628117-chr1:185644913..185647516,2	MCF-7	breast:
2	chr1:185643975..185646713-chr1:185648443..185650293,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10489708	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489709	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489710	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489711	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16824347	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824352	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56690475	1.00[ASN][1000 genomes]
rs57745490	1.00[ASN][1000 genomes]
rs61160546	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061121	1.00[ASN][1000 genomes]
rs73061125	1.00[ASN][1000 genomes]
rs73061155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061167	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062771	0.94[ASN][1000 genomes]
rs73062777	0.94[ASN][1000 genomes]
rs73070908	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74133230	1.00[EUR][1000 genomes];1.00[ASN][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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 target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185632800-185646200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:185635400-185648200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:185637200-185649200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:185639600-185648600	Weak transcription	Left Ventricle	heart
5	chr1:185639600-185649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:185640000-185648600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:185642600-185648400	Weak transcription	Right Atrium	heart
8	chr1:185643200-185648600	Weak transcription	Fetal Thymus	thymus
9	chr1:185643200-185649400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:185643800-185646400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:185643800-185649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:185644000-185645400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:185644000-185646200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:185644000-185646200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:185644000-185649200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:185644000-185649200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:185644000-185649600	Weak transcription	Fetal Heart	heart
18	chr1:185644200-185646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:185644200-185646200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:185644200-185646400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:185644200-185646600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:185644200-185648200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:185644400-185646200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:185644400-185646200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:185644400-185646200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:185644400-185646400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:185644400-185649200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:185644600-185646200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:185644600-185648800	Weak transcription	Primary B cells from cord blood	blood
30	chr1:185644800-185648400	Weak transcription	HUVEC	blood vessel
31	chr1:185644800-185649400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:185645000-185646200	Weak transcription	Primary T cells from cord blood	blood
33	chr1:185645000-185648400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:185645000-185649200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:185645000-185649200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:185645200-185648600	Weak transcription	Rectal Mucosa Donor 31	rectum

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