Variant report

Variant	rs41437548
Chromosome Location	chr4:78699163-78699164
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78697576..78699184-chr4:78739926..78741845,2	MCF-7	breast:
2	chr4:78698610..78700258-chr4:78704577..78706210,2	K562	blood:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11944704	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs1354100	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17408624	1.00[CEU][hapmap]
rs17409255	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17409708	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17410182	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17448620	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs17448771	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17449827	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17450307	1.00[CEU][hapmap]
rs17450474	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1915587	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs1915588	1.00[CEU][hapmap]
rs6816113	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7656101	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7657481	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7674271	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7687500	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7699718	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78643800-78714000	Weak transcription	Lung	lung
2	chr4:78650200-78702800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
4	chr4:78691800-78703000	Weak transcription	A549	lung
5	chr4:78693400-78704400	Weak transcription	HUVEC	blood vessel
6	chr4:78694200-78722000	Weak transcription	Fetal Stomach	stomach
7	chr4:78696400-78717600	Weak transcription	Thymus	Thymus
8	chr4:78697200-78716400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:78697400-78699200	Enhancers	Fetal Heart	heart
10	chr4:78697400-78721400	Weak transcription	Placenta	Placenta
11	chr4:78697600-78699800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:78697600-78709200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr4:78697800-78699800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:78697800-78699800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr4:78697800-78700200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:78698000-78699400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:78698000-78714000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:78698000-78714600	Weak transcription	Fetal Thymus	thymus
19	chr4:78698000-78716400	Weak transcription	Primary B cells from cord blood	blood
20	chr4:78698200-78699400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:78698200-78699400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:78698200-78700000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:78698200-78702200	Weak transcription	Pancreas	Pancrea
24	chr4:78698200-78703400	Weak transcription	Psoas Muscle	Psoas
25	chr4:78698200-78706000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr4:78698400-78699200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:78698400-78699200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:78698400-78699600	Enhancers	Primary T cells from cord blood	blood
29	chr4:78698400-78704600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:78698600-78699200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr4:78698600-78699200	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:78698600-78699400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr4:78698600-78699600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:78698600-78699600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr4:78698600-78702000	Weak transcription	HepG2	liver
36	chr4:78698600-78703000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:78698600-78703400	Weak transcription	Small Intestine	intestine
38	chr4:78698600-78704400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:78698600-78704600	Weak transcription	Fetal Lung	lung
40	chr4:78698600-78707000	Weak transcription	Gastric	stomach
41	chr4:78698600-78710600	Weak transcription	Left Ventricle	heart
42	chr4:78698600-78710600	Weak transcription	Ovary	ovary
43	chr4:78698600-78710800	Weak transcription	Adipose Nuclei	Adipose
44	chr4:78698600-78714000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:78698600-78717400	Weak transcription	Right Ventricle	heart
46	chr4:78698600-78720200	Weak transcription	Dnd41	blood
47	chr4:78698800-78699200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:78698800-78701600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:78698800-78701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:78698800-78702800	Weak transcription	Brain Germinal Matrix	brain

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