Variant report

Variant	rs2647469
Chromosome Location	chr1:220169163-220169164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220165101..220168556-chr1:220168858..220170933,3	K562	blood:
2	chr1:220168435..220171336-chr1:220322060..220324695,2	K562	blood:
3	chr1:220164810..220167759-chr1:220168424..220170636,2	K562	blood:
4	chr1:220009813..220011470-chr1:220168662..220170226,2	K562	blood:
5	chr1:220166855..220169233-chr1:220184126..220185704,2	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	0.89[EUR][1000 genomes]
rs10746395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10779395	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779396	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863524	0.85[AFR][1000 genomes]
rs12073836	0.88[AFR][1000 genomes]
rs12080607	0.85[AFR][1000 genomes]
rs12141971	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12142009	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1566252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1611961	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1612144	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1614384	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1614585	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1614719	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1622508	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1658226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1658227	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1694576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1694599	0.82[EUR][1000 genomes]
rs1694600	0.82[EUR][1000 genomes]
rs1768665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768667	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1768669	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1768670	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1768671	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1768674	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1768676	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1768677	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1874810	0.81[EUR][1000 genomes]
rs2230301	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2245457	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2248466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248717	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248719	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577139	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577140	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577142	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577144	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577145	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577147	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577150	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2577151	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2577156	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2577158	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2577159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2577163	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2577165	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647421	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647422	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647426	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2647427	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647431	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647432	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2647433	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2647434	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2647438	0.82[EUR][1000 genomes]
rs2647445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647449	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647451	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647452	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647454	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647455	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647456	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2647457	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2647462	0.82[EUR][1000 genomes]
rs2647467	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647478	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2647479	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2789793	0.82[EUR][1000 genomes]
rs2789794	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2789797	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2789800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789803	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2789806	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2789807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789808	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2789809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789810	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2789811	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789812	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789815	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2789816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2789819	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2795310	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2795314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795315	0.81[EUR][1000 genomes]
rs41274790	0.83[ASN][1000 genomes]
rs6541120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681055	0.85[EUR][1000 genomes]
rs6681471	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6681474	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6703042	0.92[EUR][1000 genomes]
rs7537058	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545314	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548397	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7550249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
5	chr1:220142600-220169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
7	chr1:220147200-220169400	Weak transcription	Fetal Heart	heart
8	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:220153600-220169200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:220154200-220169200	Weak transcription	Fetal Brain Male	brain
11	chr1:220154400-220169200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:220154400-220169200	Weak transcription	Fetal Lung	lung
13	chr1:220154600-220169200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:220156800-220169800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:220157200-220177200	Weak transcription	Esophagus	oesophagus
16	chr1:220158200-220177200	Weak transcription	Right Ventricle	heart
17	chr1:220159800-220169200	Weak transcription	Colonic Mucosa	Colon
18	chr1:220160800-220169200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:220160800-220174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:220161000-220169200	Weak transcription	Psoas Muscle	Psoas
21	chr1:220161000-220169200	Weak transcription	NHLF	lung
22	chr1:220161200-220169200	Weak transcription	Left Ventricle	heart
23	chr1:220162000-220169200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:220162000-220169200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:220162000-220175600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:220162200-220169400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:220162800-220169600	Weak transcription	HUVEC	blood vessel
28	chr1:220164600-220169400	Weak transcription	Hela-S3	cervix
29	chr1:220164800-220173800	Strong transcription	HSMM	muscle
30	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:220165200-220173000	Strong transcription	Primary T cells from cord blood	blood
32	chr1:220165400-220170600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:220166000-220170600	Strong transcription	Brain Germinal Matrix	brain
35	chr1:220166000-220189200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:220166200-220170000	Strong transcription	Fetal Stomach	stomach
38	chr1:220166200-220173000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:220166200-220174600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr1:220166200-220175200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:220166200-220178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:220166200-220178200	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:220166200-220184400	Strong transcription	Fetal Thymus	thymus
44	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:220166400-220170800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:220166400-220175000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:220166400-220199800	Strong transcription	K562	blood

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