Variant report

Variant	rs72645704
Chromosome Location	chr7:50468334-50468335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50457576..50459745-chr7:50466831..50469268,2	K562	blood:
2	chr7:50463017..50465375-chr7:50466555..50469322,3	K562	blood:
3	chr7:50467942..50470799-chr7:50474362..50477015,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11575564	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1470746	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17133828	0.89[EUR][1000 genomes]
rs17553002	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17553022	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17634434	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17634488	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs5014165	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56819103	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs57145809	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs57345445	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58298367	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58744984	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59913779	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60056150	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61731356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72645706	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72645707	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72645709	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7779747	0.89[EUR][1000 genomes]
rs7779917	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7792486	0.92[EUR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:50461600-50468600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50461600-50472600	Strong transcription	Dnd41	blood
4	chr7:50464200-50471600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:50464400-50470600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr7:50464400-50474400	Strong transcription	Thymus	Thymus
7	chr7:50464600-50471200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:50464600-50472200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:50464800-50472200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:50464800-50472400	Strong transcription	Primary hematopoietic stem cells	blood
11	chr7:50464800-50472400	Strong transcription	Fetal Thymus	thymus
12	chr7:50465400-50472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:50465600-50470400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:50465600-50472600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:50465600-50473400	Strong transcription	Primary T cells from cord blood	blood
16	chr7:50465800-50472200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:50466400-50468800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:50466400-50469000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:50466400-50469000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:50466400-50474600	Weak transcription	K562	blood
21	chr7:50466600-50473600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:50466800-50468600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:50466800-50469200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:50467000-50469800	Weak transcription	Right Atrium	heart
25	chr7:50467000-50477200	Weak transcription	Colonic Mucosa	Colon
26	chr7:50467400-50468400	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr7:50467400-50469000	ZNF genes & repeats	Lung	lung
28	chr7:50467400-50470200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:50467600-50468400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr7:50467600-50468400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:50467600-50468600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:50467600-50472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:50467800-50468400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
34	chr7:50467800-50468800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:50467800-50468800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:50467800-50469000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:50467800-50469000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr7:50467800-50469000	Enhancers	Pancreas	Pancrea
39	chr7:50467800-50469800	Strong transcription	Primary B cells from cord blood	blood
40	chr7:50467800-50471400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:50468000-50468800	Bivalent Enhancer	Fetal Brain Male	brain
42	chr7:50468000-50469200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:50468000-50472200	Strong transcription	GM12878-XiMat	blood
44	chr7:50468200-50468400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:50468200-50468400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr7:50468200-50470200	Strong transcription	Spleen	Spleen
47	chr7:50468200-50479800	Weak transcription	Gastric	stomach

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