Variant report

Variant	rs73709039
Chromosome Location	chr7:97598322-97598323
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97592634..97595675-chr7:97597401..97599518,4	K562	blood:
2	chr7:97596068..97599027-chr7:97601330..97603299,2	K562	blood:
3	chr7:97590573..97595675-chr7:97595884..97599293,5	K562	blood:

Variant related genes	Relation type
ENSG00000243554	Chromatin interaction
ENSG00000266318	Chromatin interaction
ENSG00000266668	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57097373	0.83[AMR][1000 genomes]
rs59728634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60100125	0.83[AMR][1000 genomes]
rs60691739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709031	0.83[AMR][1000 genomes]
rs73709040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709143	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv1844775	chr7:97502740-97606178	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv970555	chr7:97502806-97639154	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
8	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS 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	36 gene(s)	inside rSNPs	diseases
9	nsv981676	chr7:97597487-97608316	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97573800-97600200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:97574000-97600400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:97581800-97598400	Weak transcription	Gastric	stomach
4	chr7:97582800-97600600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:97584600-97600800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:97586200-97599400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:97591400-97600600	Weak transcription	Psoas Muscle	Psoas
8	chr7:97591400-97600600	Weak transcription	Right Ventricle	heart
9	chr7:97592000-97598600	Strong transcription	Adipose Nuclei	Adipose
10	chr7:97592000-97600400	Weak transcription	Fetal Heart	heart
11	chr7:97592000-97601000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:97592400-97600200	Weak transcription	HMEC	breast
13	chr7:97592600-97600200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:97593000-97600000	Weak transcription	HepG2	liver
15	chr7:97593000-97600200	Weak transcription	HUVEC	blood vessel
16	chr7:97593000-97600800	Weak transcription	Aorta	Aorta
17	chr7:97593200-97598600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr7:97593200-97599000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:97593200-97600400	Weak transcription	Fetal Brain Male	brain
20	chr7:97593200-97600600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:97593400-97599400	Strong transcription	Dnd41	blood
22	chr7:97593400-97599400	Weak transcription	Hela-S3	cervix
23	chr7:97593400-97600200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:97593400-97600200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:97593400-97600400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:97593400-97600600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:97593600-97598600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:97593600-97600600	Weak transcription	Colonic Mucosa	Colon
29	chr7:97593600-97600600	Weak transcription	NH-A	brain
30	chr7:97593600-97600800	Weak transcription	NHDF-Ad	bronchial
31	chr7:97593800-97598600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr7:97593800-97599200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:97593800-97600800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:97594000-97598800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr7:97594000-97599600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:97594200-97598600	Strong transcription	K562	blood
37	chr7:97594200-97599000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:97594200-97599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:97594200-97599400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:97594600-97599600	Strong transcription	A549	lung
41	chr7:97594600-97600400	Weak transcription	HSMM	muscle
42	chr7:97594800-97598800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:97594800-97599000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:97595000-97599000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:97595000-97600800	Weak transcription	Fetal Kidney	kidney
46	chr7:97595200-97598800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:97595200-97598800	Strong transcription	Fetal Stomach	stomach
48	chr7:97595200-97599200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:97595200-97600200	Weak transcription	Small Intestine	intestine
50	chr7:97595400-97599400	Strong transcription	Monocytes-CD14+_RO01746	blood

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