Variant report

Variant	rs60691295
Chromosome Location	chr5:75629216-75629217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75628819..75631136-chr5:75840007..75842103,2	K562	blood:
2	chr5:75624448..75626842-chr5:75628180..75631008,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IQGAP2-1	chr5:75627662-75629781	ENSG00000266045.1

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11954110	0.87[AFR][1000 genomes]
rs11954779	0.87[AFR][1000 genomes]
rs16873317	0.94[AFR][1000 genomes]
rs16873320	0.94[AFR][1000 genomes]
rs55712299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59047714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60514411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764325	0.92[AFR][1000 genomes]
rs73764326	0.94[AFR][1000 genomes]
rs73764327	0.94[AFR][1000 genomes]
rs73764328	0.94[AFR][1000 genomes]
rs73764330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764349	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1032033	chr5:75609686-75646482	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023310	chr5:75609686-75651786	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3353515	chr5:75609996-75632294	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3425598	chr5:75610980-75647048	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2757120	chr5:75611597-75642974	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2759352	chr5:75611597-75642974	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1028669	chr5:75611597-75643598	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1020853	chr5:75611597-75651786	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75620400-75629400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr5:75620600-75629600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:75620600-75630400	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:75622000-75629800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:75622600-75633600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:75622800-75634000	Weak transcription	Esophagus	oesophagus
7	chr5:75624000-75629600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:75624600-75629600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:75626800-75631000	Enhancers	Fetal Stomach	stomach
10	chr5:75627000-75629600	Enhancers	K562	blood
11	chr5:75627400-75630000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:75627400-75632800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:75627600-75630600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:75627800-75631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:75627800-75633400	Weak transcription	Adipose Nuclei	Adipose
16	chr5:75628000-75631000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:75628000-75633400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:75628200-75630200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:75628200-75632200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:75628200-75633400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:75628200-75633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:75628200-75633400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:75628200-75633400	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:75628200-75633600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:75628200-75633600	Weak transcription	Pancreas	Pancrea
26	chr5:75628200-75633600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:75628400-75633400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:75628600-75629600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:75628600-75629600	Enhancers	Fetal Kidney	kidney
30	chr5:75628600-75629800	Enhancers	Fetal Lung	lung
31	chr5:75628600-75632200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:75628600-75633200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:75628600-75633400	Weak transcription	Stomach Mucosa	stomach
34	chr5:75628600-75633800	Weak transcription	Liver	Liver
35	chr5:75628800-75629400	Weak transcription	Fetal Thymus	thymus
36	chr5:75628800-75629600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:75628800-75633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:75628800-75633400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:75628800-75633600	Weak transcription	Primary T cells from cord blood	blood
40	chr5:75628800-75633600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:75629000-75629400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:75629000-75629800	Enhancers	HepG2	liver
43	chr5:75629000-75631000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:75629000-75633400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:75629000-75633400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:75629000-75633400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:75629000-75633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:75629000-75633600	Weak transcription	H9 Cell Line	embryonic stem cell

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