Variant report

Variant	rs4719786
Chromosome Location	chr7:3131451-3131452
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10225542	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10255722	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10265027	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10266726	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10272575	0.99[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272700	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951034	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951044	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12700563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221367	0.80[ASN][1000 genomes]
rs28458463	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736220	0.81[ASN][1000 genomes]
rs4236317	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4719784	0.94[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4722404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722443	0.80[EUR][1000 genomes]
rs6461821	0.82[ASN][1000 genomes]
rs6461825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6943609	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6945344	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6952068	0.82[ASN][1000 genomes]
rs6965630	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967018	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6978200	0.80[ASN][1000 genomes]
rs7809262	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887319	chr7:3099853-3134593	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv887320	chr7:3110446-3134593	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv605875	chr7:3117801-3134593	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1020680	chr7:3125512-3204521	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1027945	chr7:3125512-3208071	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr7:3128800-3131600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:3128800-3131600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr7:3128800-3132200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr7:3128800-3134200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:3128800-3134400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:3129000-3131800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr7:3129000-3131800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:3129200-3131800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:3129400-3134200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:3129600-3132000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr7:3129600-3134600	Enhancers	Fetal Thymus	thymus
12	chr7:3130200-3134400	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:3130200-3134400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:3130600-3133200	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:3130600-3134200	Enhancers	Primary B cells from cord blood	blood
16	chr7:3130800-3131800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:3131000-3131600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:3131000-3132000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr7:3131000-3132400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:3131000-3132600	Enhancers	Spleen	Spleen
21	chr7:3131000-3133200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:3131200-3131800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:3131200-3132200	Weak transcription	Thymus	Thymus
24	chr7:3131200-3134000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:3131200-3134400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:3131400-3131800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr7:3131400-3132000	Enhancers	Esophagus	oesophagus
28	chr7:3131400-3132200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:3131400-3132400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr7:3131400-3132400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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