Variant report

Variant	rs12386743
Chromosome Location	chr7:150181187-150181188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150172387..150174291-chr7:150178480..150181498,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP6-5	chr7:150181149-150182223	NONHSAT124141

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10250123	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10266589	1.00[ASN][1000 genomes]
rs6464070	0.97[ASN][1000 genomes]
rs6943537	0.97[ASN][1000 genomes]
rs6943958	0.97[ASN][1000 genomes]
rs6948000	0.97[ASN][1000 genomes]
rs6953146	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6972095	0.97[ASN][1000 genomes]
rs73478127	0.97[ASN][1000 genomes]
rs73478149	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73480173	0.84[ASN][1000 genomes]
rs7789604	0.97[ASN][1000 genomes]
rs7789612	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801789	0.97[ASN][1000 genomes]
rs7810382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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 target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv970606	chr7:150179372-150181886	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150177400-150181400	Weak transcription	NHEK	skin
2	chr7:150177400-150181800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr7:150178000-150182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:150178400-150181200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr7:150179000-150181400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:150180000-150181600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150180000-150181600	Flanking Active TSS	Dnd41	blood
8	chr7:150180000-150181800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr7:150180200-150181200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr7:150180200-150181200	Flanking Active TSS	HUVEC	blood vessel
11	chr7:150180400-150181400	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr7:150180400-150181400	Weak transcription	Adipose Nuclei	Adipose
13	chr7:150180400-150182200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:150180400-150182200	Weak transcription	Fetal Thymus	thymus
15	chr7:150180400-150183600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:150180400-150184800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:150180400-150199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:150180600-150181200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr7:150180600-150181200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr7:150180600-150181200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr7:150180600-150181200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:150180800-150181200	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr7:150180800-150181200	Active TSS	Primary hematopoietic stem cells	blood
24	chr7:150180800-150181200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:150180800-150181600	Active TSS	Primary T cells fromperipheralblood	blood
26	chr7:150181000-150181200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:150181000-150181200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr7:150181000-150181400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr7:150181000-150181400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:150181000-150181600	Enhancers	Duodenum Mucosa	Duodenum
31	chr7:150181000-150185600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150181000-150186400	Enhancers	Primary T helper cells fromperipheralblood	blood

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