Variant report

Variant	rs73715450
Chromosome Location	chr7:104865386-104865387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104851794..104856140-chr7:104862639..104865713,4	K562	blood:
2	chr7:104856384..104859738-chr7:104863691..104865775,3	K562	blood:
3	chr7:104858335..104861372-chr7:104862250..104865906,3	MCF-7	breast:
4	chr7:104864938..104867241-chr7:104867879..104870471,2	K562	blood:
5	chr7:104864302..104866709-chr7:104943656..104946134,2	MCF-7	breast:
6	chr7:104859062..104861835-chr7:104863992..104867618,5	MCF-7	breast:
7	chr7:104855097..104857884-chr7:104863691..104866292,2	K562	blood:

Variant related genes	Relation type
ENSG00000242154	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13233843	1.00[AMR][1000 genomes]
rs55638165	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55715849	1.00[AMR][1000 genomes]
rs55921215	1.00[AMR][1000 genomes]
rs56162214	1.00[AMR][1000 genomes]
rs56288108	1.00[AMR][1000 genomes]
rs56966676	1.00[AMR][1000 genomes]
rs57051304	1.00[AMR][1000 genomes]
rs57160311	1.00[AMR][1000 genomes]
rs57402653	1.00[AMR][1000 genomes]
rs57741635	1.00[AMR][1000 genomes]
rs58907242	1.00[AMR][1000 genomes]
rs59946584	1.00[AMR][1000 genomes]
rs60436179	1.00[AMR][1000 genomes]
rs61150364	1.00[AMR][1000 genomes]
rs61280887	1.00[AMR][1000 genomes]
rs61285225	1.00[AMR][1000 genomes]
rs73715406	1.00[AMR][1000 genomes]
rs73715440	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715442	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715443	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715444	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715543	1.00[AMR][1000 genomes]
rs73715546	1.00[AMR][1000 genomes]
rs73715548	1.00[AMR][1000 genomes]
rs73715557	1.00[AMR][1000 genomes]
rs73716651	1.00[AMR][1000 genomes]
rs73716652	1.00[AMR][1000 genomes]
rs73716698	1.00[AMR][1000 genomes]
rs73716700	1.00[AMR][1000 genomes]
rs73717956	1.00[AMR][1000 genomes]
rs73717964	1.00[AMR][1000 genomes]
rs73718215	1.00[AMR][1000 genomes]
rs73718216	1.00[AMR][1000 genomes]
rs73718217	1.00[AMR][1000 genomes]
rs73718218	1.00[AMR][1000 genomes]
rs73718222	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104842200-104865400	Weak transcription	K562	blood
2	chr7:104844200-104869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104844200-104869000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:104844200-104869000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:104851600-104878600	Weak transcription	Right Ventricle	heart
6	chr7:104851800-104870400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:104853200-104865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104853600-104869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:104854400-104865800	Weak transcription	Fetal Kidney	kidney
10	chr7:104854600-104865400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:104854800-104865600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:104855200-104865800	Weak transcription	Primary T cells from cord blood	blood
13	chr7:104856800-104865400	Weak transcription	Primary B cells from cord blood	blood
14	chr7:104858000-104865400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:104858600-104865400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:104858800-104865400	Weak transcription	Thymus	Thymus
17	chr7:104859000-104865600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:104859000-104869000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:104859000-104878600	Weak transcription	Gastric	stomach
20	chr7:104859600-104866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:104859800-104869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:104860200-104865400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:104860200-104877200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:104860400-104865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:104860400-104865400	Weak transcription	Stomach Mucosa	stomach
26	chr7:104860400-104865400	Weak transcription	NH-A	brain
27	chr7:104860600-104865400	Weak transcription	NHLF	lung
28	chr7:104861000-104872200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:104862200-104873800	Weak transcription	Spleen	Spleen
30	chr7:104862800-104869000	Weak transcription	Fetal Stomach	stomach
31	chr7:104863200-104865400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:104863400-104865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:104863400-104868200	Genic enhancers	Dnd41	blood
34	chr7:104863600-104878400	Weak transcription	Aorta	Aorta
35	chr7:104863800-104865400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:104863800-104865400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:104863800-104865400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:104863800-104865400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:104863800-104865400	Weak transcription	Fetal Thymus	thymus
40	chr7:104863800-104865400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:104863800-104869000	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:104863800-104873400	Weak transcription	Ovary	ovary
43	chr7:104863800-104877000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:104863800-104878600	Weak transcription	Pancreas	Pancrea
45	chr7:104864000-104865400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:104864000-104865400	Weak transcription	Brain Angular Gyrus	brain
47	chr7:104864000-104865400	Weak transcription	Brain Anterior Caudate	brain
48	chr7:104864000-104865400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:104864000-104865400	Weak transcription	Brain Substantia Nigra	brain
50	chr7:104864000-104865600	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links