Variant report

Variant	rs7793561
Chromosome Location	chr7:100135811-100135812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:100135678-100138375	SK-N-SH	brain:	n/a	n/a
2	ARID3A	chr7:100135811-100135972	K562	blood:	n/a	n/a
3	POLR2A	chr7:100135757-100137160	PFSK-1	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100135274..100138223-chr7:100165794..100167927,2	MCF-7	breast:
2	chr7:100025714..100030196-chr7:100134897..100138793,5	K562	blood:
3	chr7:100080256..100081975-chr7:100135714..100137947,2	MCF-7	breast:
4	chr7:100081136..100082649-chr7:100135146..100137776,2	K562	blood:
5	chr7:100073864..100076959-chr7:100134677..100138430,3	K562	blood:
6	chr7:100134485..100137368-chr7:100183364..100186308,2	K562	blood:

No data

Variant related genes	Relation type
AGFG2	TF binding region
ENSG00000077454	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000184414	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000166924	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17855473	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1962152	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075668	0.88[AFR][1000 genomes]
rs6651109	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66639430	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73405401	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787211	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
4	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
6	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
7	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
9	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv3385336	chr7:100134766-100138414	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100091800-100136200	Weak transcription	Right Atrium	heart
2	chr7:100125800-100136000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:100129800-100136000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:100131200-100136000	Weak transcription	Colonic Mucosa	Colon
5	chr7:100131200-100136000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:100131200-100136000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:100131400-100136000	Weak transcription	Stomach Mucosa	stomach
8	chr7:100131800-100136000	Weak transcription	Fetal Heart	heart
9	chr7:100132200-100136000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:100132800-100136000	Weak transcription	Right Ventricle	heart
11	chr7:100133000-100136000	Weak transcription	Liver	Liver
12	chr7:100133000-100136000	Weak transcription	Fetal Intestine Large	intestine
13	chr7:100133000-100136000	Weak transcription	Fetal Intestine Small	intestine
14	chr7:100135800-100136000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:100135800-100136000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:100135800-100136000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:100135800-100136000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:100135800-100136000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:100135800-100136000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:100135800-100136000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:100135800-100136000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:100135800-100136000	Enhancers	Primary B cells from cord blood	blood
23	chr7:100135800-100136000	Enhancers	Primary T cells from cord blood	blood
24	chr7:100135800-100136000	Enhancers	Primary hematopoietic stem cells	blood
25	chr7:100135800-100136000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:100135800-100136000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:100135800-100136000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr7:100135800-100136000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:100135800-100136000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:100135800-100136000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:100135800-100136000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:100135800-100136000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:100135800-100136000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:100135800-100136000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:100135800-100136000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:100135800-100136000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:100135800-100136000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:100135800-100136000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:100135800-100136000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:100135800-100136000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:100135800-100136000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:100135800-100136000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:100135800-100136000	Enhancers	Adipose Nuclei	Adipose
44	chr7:100135800-100136000	Enhancers	Brain Angular Gyrus	brain
45	chr7:100135800-100136000	Enhancers	Brain Anterior Caudate	brain
46	chr7:100135800-100136000	Enhancers	Brain Cingulate Gyrus	brain
47	chr7:100135800-100136000	Enhancers	Brain Germinal Matrix	brain
48	chr7:100135800-100136000	Enhancers	Brain Hippocampus Middle	brain
49	chr7:100135800-100136000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:100135800-100136000	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links