Variant report

Variant	rs73348943
Chromosome Location	chr7:7457622-7457623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7391197..7393340-chr7:7455899..7457673,2	MCF-7	breast:
2	chr7:7456425..7458799-chr7:7459595..7461119,2	K562	blood:
3	chr7:7456758..7459628-chr7:7464929..7467571,2	K562	blood:

Variant related genes	Relation type
ENSG00000215018	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11510542	1.00[AMR][1000 genomes]
rs11510548	1.00[AMR][1000 genomes]
rs17167163	1.00[AMR][1000 genomes]
rs56741460	1.00[AMR][1000 genomes]
rs57928001	1.00[AMR][1000 genomes]
rs58252454	1.00[AMR][1000 genomes]
rs59714813	1.00[AMR][1000 genomes]
rs59863208	1.00[AMR][1000 genomes]
rs73334126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334145	1.00[AMR][1000 genomes]
rs73334153	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334177	1.00[AMR][1000 genomes]
rs73343263	1.00[AMR][1000 genomes]
rs73343297	1.00[AMR][1000 genomes]
rs73343301	1.00[AMR][1000 genomes]
rs73345245	1.00[AMR][1000 genomes]
rs73345248	1.00[AMR][1000 genomes]
rs73345250	1.00[AMR][1000 genomes]
rs73345257	1.00[AMR][1000 genomes]
rs73345273	1.00[AMR][1000 genomes]
rs73346304	1.00[AMR][1000 genomes]
rs73346306	0.85[AFR][1000 genomes]
rs73346309	1.00[AMR][1000 genomes]
rs73346319	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346335	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347103	1.00[AMR][1000 genomes]
rs73347174	1.00[AMR][1000 genomes]
rs73347183	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription 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	33 gene(s)	inside rSNPs	diseases
11	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer 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
15	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7447800-7463800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:7447800-7464200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:7451200-7464000	Weak transcription	Gastric	stomach
4	chr7:7454400-7464200	Weak transcription	Small Intestine	intestine
5	chr7:7455000-7458000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:7455200-7478600	Weak transcription	Pancreas	Pancrea
7	chr7:7456000-7458200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:7456200-7464200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:7456400-7459200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:7456400-7461000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:7456800-7458200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:7457000-7457800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:7457000-7458000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:7457000-7459000	Weak transcription	Fetal Intestine Small	intestine
15	chr7:7457000-7461800	Weak transcription	Stomach Mucosa	stomach
16	chr7:7457200-7457800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:7457200-7458000	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:7457400-7458000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:7457400-7458200	Enhancers	Primary B cells from cord blood	blood

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