Variant report

Variant	rs2789815
Chromosome Location	chr1:220200021-220200022
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	chr1:220191199..220193834-chr1:220197562..220200114,2	K562	blood:
2	chr1:220198252..220200189-chr1:220204982..220206725,3	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10442684	0.87[EUR][1000 genomes]
rs10746395	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10746396	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10779395	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10779396	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10863524	0.84[AFR][1000 genomes]
rs12073836	0.82[AFR][1000 genomes]
rs12141971	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12142009	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1566252	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1611961	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1612144	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1614384	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1614585	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1614719	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1622508	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1658226	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1658227	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1694576	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1694599	0.83[EUR][1000 genomes]
rs1694600	0.83[EUR][1000 genomes]
rs1768665	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1768667	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1768669	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1768670	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1768671	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1768674	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1768676	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1768677	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1874810	0.82[EUR][1000 genomes]
rs2230301	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245457	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2248466	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2248479	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2248717	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2248719	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577138	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577139	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2577140	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577141	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577142	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577144	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577145	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577146	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577147	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2577148	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577149	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577150	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577151	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2577156	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2577158	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2577159	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2577160	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2577163	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2577165	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2647420	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647421	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2647422	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647423	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647424	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647426	0.89[EUR][1000 genomes]
rs2647427	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2647428	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647429	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647430	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647431	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2647432	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2647433	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2647434	0.95[EUR][1000 genomes]
rs2647438	0.83[EUR][1000 genomes]
rs2647441	0.80[EUR][1000 genomes]
rs2647445	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647446	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647447	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647448	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647449	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647451	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2647452	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2647454	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2647455	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2647456	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2647457	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2647462	0.83[EUR][1000 genomes]
rs2647467	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2647469	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647470	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647478	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2647479	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789793	0.84[EUR][1000 genomes]
rs2789794	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789797	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789800	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2789802	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2789803	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2789806	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2789807	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2789808	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2789809	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2789810	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2789811	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2789812	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2789813	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2789816	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789817	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2789819	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2795310	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2795314	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2795315	0.82[EUR][1000 genomes]
rs41274790	0.83[ASN][1000 genomes]
rs6541120	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6681055	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6681471	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6681474	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6703042	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7537058	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7545314	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7548397	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7550249	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3362405	chr1:220199279-220202577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
13	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:220176000-220208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:220176400-220208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:220176600-220200200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:220177600-220205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
22	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
23	chr1:220185800-220200200	Strong transcription	Fetal Thymus	thymus
24	chr1:220186200-220200200	Strong transcription	HSMM	muscle
25	chr1:220186600-220207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:220186800-220200200	Strong transcription	Placenta	Placenta
27	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
28	chr1:220187400-220200400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:220189200-220208000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:220189600-220208400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:220190800-220200600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:220190800-220208400	Strong transcription	Liver	Liver
34	chr1:220190800-220210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:220192400-220200200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:220192600-220200200	Strong transcription	HepG2	liver
37	chr1:220192600-220206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:220193600-220202400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:220194200-220203600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:220194400-220200200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:220194800-220206800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
45	chr1:220194800-220212200	Weak transcription	Aorta	Aorta
46	chr1:220195000-220203800	Weak transcription	Fetal Brain Female	brain
47	chr1:220195600-220202400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:220195600-220204000	Weak transcription	Fetal Stomach	stomach
49	chr1:220195600-220205600	Weak transcription	Lung	lung
50	chr1:220195800-220204400	Weak transcription	HSMMtube	muscle

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