Variant report

Variant	rs6948000
Chromosome Location	chr7:150200954-150200955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10266589	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12386743	0.97[ASN][1000 genomes]
rs6464070	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6943537	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6943958	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953146	1.00[ASN][1000 genomes]
rs6972095	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73478127	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73478149	1.00[ASN][1000 genomes]
rs73480173	0.87[ASN][1000 genomes]
rs7789604	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7789612	1.00[ASN][1000 genomes]
rs7801789	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810382	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150199000-150202400	Enhancers	Dnd41	blood
2	chr7:150199000-150202800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:150199000-150202800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:150199000-150204000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:150199000-150204200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:150199400-150201000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:150199400-150202800	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:150199400-150202800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr7:150199400-150202800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:150199400-150203000	Enhancers	Primary T cells from cord blood	blood
11	chr7:150199600-150201600	Enhancers	Thymus	Thymus
12	chr7:150199600-150202400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:150199600-150202600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:150199600-150202600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr7:150199600-150202800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:150199600-150202800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:150199600-150202800	Enhancers	Fetal Thymus	thymus
18	chr7:150200000-150201400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:150200000-150201600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:150200200-150201000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr7:150200400-150201400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr7:150200400-150201600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr7:150200400-150201600	Enhancers	Fetal Heart	heart
24	chr7:150200400-150201600	Enhancers	Fetal Muscle Leg	muscle
25	chr7:150200400-150202600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:150200600-150201200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:150200600-150201400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:150200600-150205600	Weak transcription	Spleen	Spleen
29	chr7:150200800-150201200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:150200800-150202800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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