Variant report

Variant	rs73484972
Chromosome Location	chr11:65056411-65056412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65055229..65056985-chr11:65059907..65061766,3	K562	blood:
2	chr11:65049877..65053705-chr11:65055914..65059488,4	K562	blood:
3	chr11:65054454..65057317-chr11:65058868..65061656,2	MCF-7	breast:
4	chr11:65055007..65056985-chr11:65059907..65061766,3	K562	blood:
5	chr11:65045668..65049157-chr11:65055365..65058744,5	K562	blood:

Variant related genes	Relation type
ENSG00000014138	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11819804	1.00[AMR][1000 genomes]
rs11821423	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821851	1.00[AMR][1000 genomes]
rs11823327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824738	1.00[AMR][1000 genomes]
rs11824827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35225270	1.00[AMR][1000 genomes]
rs4149823	1.00[EUR][1000 genomes]
rs4149824	1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[EUR][1000 genomes]
rs41556122	1.00[AMR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs58771438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59598510	1.00[EUR][1000 genomes]
rs59646878	1.00[EUR][1000 genomes]
rs60315122	1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs7107815	1.00[AMR][1000 genomes]
rs7108941	1.00[AMR][1000 genomes]
rs7114046	1.00[AMR][1000 genomes]
rs7121464	1.00[AMR][1000 genomes]
rs7123885	1.00[AMR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	1.00[EUR][1000 genomes]
rs73482959	1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73484950	1.00[EUR][1000 genomes]
rs73484954	1.00[EUR][1000 genomes]
rs73484963	1.00[EUR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484981	1.00[EUR][1000 genomes]
rs7926687	1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65030200-65058800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65030600-65056800	Weak transcription	Right Atrium	heart
3	chr11:65030600-65058000	Weak transcription	Fetal Brain Male	brain
4	chr11:65030600-65058800	Weak transcription	Psoas Muscle	Psoas
5	chr11:65031200-65064800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:65031800-65058000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:65042400-65068800	Strong transcription	Fetal Thymus	thymus
8	chr11:65042800-65059000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:65042800-65065000	Strong transcription	Primary T cells from cord blood	blood
10	chr11:65042800-65072800	Strong transcription	Dnd41	blood
11	chr11:65043000-65066200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr11:65043000-65067600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:65043200-65066400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:65043200-65066600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:65043400-65056800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:65043400-65058200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:65043400-65059000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:65043400-65067200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr11:65043400-65067200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:65043600-65065000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:65043800-65058000	Strong transcription	K562	blood
22	chr11:65044000-65065600	Strong transcription	Thymus	Thymus
23	chr11:65044400-65058800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:65044400-65066200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:65045000-65066600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:65045600-65065200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:65045800-65067200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:65046000-65067000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:65046800-65057400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:65046800-65058000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:65047600-65064800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:65047800-65056800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:65047800-65075800	Weak transcription	Small Intestine	intestine
34	chr11:65048000-65058200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:65048200-65058200	Weak transcription	Stomach Mucosa	stomach
36	chr11:65048400-65058600	Strong transcription	Fetal Intestine Small	intestine
37	chr11:65048400-65065000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:65048400-65069000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:65048800-65058800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:65049000-65057400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:65049200-65057800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:65049800-65058200	Weak transcription	Fetal Kidney	kidney
43	chr11:65049800-65058400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:65050200-65056600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:65050200-65056600	Weak transcription	Aorta	Aorta
46	chr11:65050200-65056800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:65050200-65057800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:65050200-65058000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:65050200-65058400	Weak transcription	Right Ventricle	heart
50	chr11:65050200-65058600	Weak transcription	Colonic Mucosa	Colon

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