Variant report

Variant	rs73051444
Chromosome Location	chr7:2866529-2866530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2728674..2730877-chr7:2866251..2868525,3	MCF-7	breast:
2	chr7:2865761..2868437-chr7:2870160..2873131,2	K562	blood:
3	chr7:2865169..2866732-chr7:2874192..2876662,2	K562	blood:
4	chr7:2861472..2864463-chr7:2865444..2867684,3	MCF-7	breast:
5	chr7:2865761..2868470-chr7:2869606..2871660,2	K562	blood:

Variant related genes	Relation type
ENSG00000231357	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11761804	0.81[AMR][1000 genomes]
rs11765386	0.82[AMR][1000 genomes]
rs11765473	0.82[AMR][1000 genomes]
rs11765726	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11766514	0.82[AMR][1000 genomes]
rs11768001	0.82[AMR][1000 genomes]
rs11769532	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11769669	0.82[AMR][1000 genomes]
rs11770710	0.82[AMR][1000 genomes]
rs11772176	0.82[AMR][1000 genomes]
rs12540539	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17132741	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17132744	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17241904	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17300022	0.81[AMR][1000 genomes]
rs28706013	0.84[AMR][1000 genomes]
rs35450876	0.82[AMR][1000 genomes]
rs55752034	0.81[AMR][1000 genomes]
rs56007918	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56296737	0.82[AMR][1000 genomes]
rs6945135	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6964740	0.84[AMR][1000 genomes]
rs6967664	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73033403	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73033407	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73033408	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73033412	0.82[AMR][1000 genomes]
rs73033432	0.84[AMR][1000 genomes]
rs73049362	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73049380	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73051415	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73051469	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs757788	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7804264	0.83[AMR][1000 genomes]
rs7811164	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv1019463	chr7:2848448-2881872	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2842600-2869400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:2848800-2874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:2851600-2869600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:2851800-2882800	Weak transcription	Aorta	Aorta
5	chr7:2854000-2874800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:2857000-2867000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:2858200-2868200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:2861000-2867000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:2861000-2881800	Weak transcription	Colonic Mucosa	Colon
10	chr7:2861200-2877000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:2861400-2874000	Weak transcription	Dnd41	blood
12	chr7:2861400-2876600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:2861400-2882200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:2861400-2883000	Weak transcription	Thymus	Thymus
15	chr7:2861600-2867000	Weak transcription	Fetal Intestine Large	intestine
16	chr7:2861800-2874600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:2861800-2882400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:2862000-2870600	Weak transcription	Hela-S3	cervix
19	chr7:2862200-2882600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:2862600-2867200	Enhancers	HSMM	muscle
21	chr7:2862800-2882400	Weak transcription	A549	lung
22	chr7:2863000-2878600	Weak transcription	Small Intestine	intestine
23	chr7:2863200-2876600	Weak transcription	HUVEC	blood vessel
24	chr7:2863600-2872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:2863800-2867000	Enhancers	HepG2	liver
26	chr7:2863800-2867000	Weak transcription	NHEK	skin
27	chr7:2863800-2881600	Weak transcription	HMEC	breast
28	chr7:2864000-2871600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:2864200-2874000	Weak transcription	Adipose Nuclei	Adipose
30	chr7:2864200-2874600	Weak transcription	Fetal Brain Female	brain
31	chr7:2864200-2881000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:2864200-2882800	Weak transcription	Esophagus	oesophagus
33	chr7:2864600-2874400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:2864600-2875000	Weak transcription	Gastric	stomach
35	chr7:2864800-2866800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:2864800-2868800	Weak transcription	K562	blood
37	chr7:2864800-2871600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:2864800-2874600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:2864800-2877200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:2864800-2878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:2864800-2881800	Weak transcription	Fetal Thymus	thymus
42	chr7:2865000-2866800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:2865000-2872400	Weak transcription	Brain Germinal Matrix	brain
44	chr7:2865000-2877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:2865000-2882400	Weak transcription	Fetal Kidney	kidney
46	chr7:2865200-2867000	Weak transcription	Pancreas	Pancrea
47	chr7:2865200-2867200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:2865200-2869200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:2865200-2869600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:2865200-2874400	Weak transcription	GM12878-XiMat	blood

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