Variant report

Variant	rs41467749
Chromosome Location	chr7:3080353-3080354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17132850	1.00[AMR][1000 genomes]
rs17150474	1.00[EUR][1000 genomes]
rs41324544	1.00[AMR][1000 genomes]
rs41328150	1.00[AMR][1000 genomes]
rs41348445	1.00[AMR][1000 genomes]
rs41484645	1.00[EUR][1000 genomes]
rs41533747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60017678	1.00[EUR][1000 genomes]
rs7799701	1.00[AMR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3068000-3082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3068600-3081600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:3068800-3081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:3068800-3082000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:3068800-3082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:3073400-3080400	Weak transcription	Spleen	Spleen
7	chr7:3073400-3080800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:3075400-3081600	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr7:3076000-3081600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr7:3076800-3081000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:3076800-3081600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:3077000-3081600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:3077200-3081600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:3077600-3080800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:3077600-3081600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:3078000-3082000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:3078000-3082000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:3078200-3081200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:3078400-3080600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:3078400-3081800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:3078400-3082600	Weak transcription	Esophagus	oesophagus
22	chr7:3078600-3081600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:3078600-3082000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:3078600-3082000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:3078600-3082000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:3078600-3082000	Weak transcription	Thymus	Thymus
27	chr7:3079200-3081600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr7:3079400-3081000	Genic enhancers	Primary T cells from cord blood	blood
29	chr7:3079800-3081000	Weak transcription	Fetal Thymus	thymus
30	chr7:3079800-3081600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:3080000-3081400	Enhancers	Primary B cells from cord blood	blood
32	chr7:3080200-3082200	Flanking Active TSS	GM12878-XiMat	blood

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