Variant report

Variant	rs73735622
Chromosome Location	chr7:139478887-139478888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:139477870-139479102	IMR90	lung:	n/a	n/a
2	YY1	chr7:139476538-139479022	SK-N-SH	brain:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477955-139477969 chr7:139477902-139477921 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477901-139477921 chr7:139477535-139477546 chr7:139477507-139477515 chr7:139477989-139478000
3	MXI1	chr7:139474826-139479222	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr7:139473683-139479282	IMR90	lung:	n/a	n/a
5	MAZ	chr7:139476227-139479595	IMR90	lung:	n/a	chr7:139477444-139477453 chr7:139477485-139477495 chr7:139477257-139477267

No.	Distal block	Cell Line	Cell type
1	chr6:26158181..26160251-chr7:139476447..139479207,2	K562	blood:
2	chr7:139476813..139479584-chr7:139529025..139531896,2	MCF-7	breast:
3	chr7:139478498..139480107-chr7:139674216..139675922,2	K562	blood:

Variant related genes	Relation type
HIPK2	TF binding region
ENSG00000059377	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10273177	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281682	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17161128	0.86[AFR][1000 genomes]
rs28530639	0.86[AFR][1000 genomes]
rs28714444	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55700662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56086211	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60258209	0.92[AFR][1000 genomes]
rs6947792	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6950459	0.86[AFR][1000 genomes]
rs6954520	0.86[AFR][1000 genomes]
rs73735619	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73735623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735625	0.87[AFR][1000 genomes]
rs73735628	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139475600-139479000	Active TSS	NHLF	lung
2	chr7:139475800-139479000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:139475800-139479000	Active TSS	Ovary	ovary
4	chr7:139476200-139479000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:139476200-139479200	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr7:139476400-139479000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:139478000-139479000	Active TSS	Fetal Kidney	kidney
8	chr7:139478200-139479000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:139478200-139479000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr7:139478200-139479000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:139478200-139479000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:139478200-139479000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr7:139478200-139479000	Flanking Active TSS	HMEC	breast
14	chr7:139478200-139479200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:139478200-139479200	Flanking Bivalent TSS/Enh	Dnd41	blood
16	chr7:139478400-139479000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:139478400-139479000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:139478400-139479000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:139478400-139479000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr7:139478400-139479000	Flanking Active TSS	K562	blood
21	chr7:139478400-139479200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:139478400-139479200	Flanking Active TSS	Fetal Brain Male	brain
23	chr7:139478400-139479200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr7:139478600-139479000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr7:139478600-139479000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr7:139478600-139479000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:139478600-139479000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:139478600-139479000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:139478600-139479000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr7:139478600-139479000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr7:139478600-139479000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:139478600-139479000	Flanking Active TSS	Fetal Brain Female	brain
33	chr7:139478600-139479000	Enhancers	Fetal Heart	heart
34	chr7:139478600-139479000	Flanking Bivalent TSS/Enh	Thymus	Thymus
35	chr7:139478600-139479000	Flanking Active TSS	A549	lung
36	chr7:139478600-139479000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr7:139478600-139479000	Flanking Active TSS	Osteobl	bone
38	chr7:139478600-139479200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:139478600-139479200	Enhancers	Liver	Liver
40	chr7:139478600-139483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:139478600-139483400	Weak transcription	Gastric	stomach
42	chr7:139478600-139485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:139478800-139479000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr7:139478800-139479000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr7:139478800-139479000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:139478800-139479000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr7:139478800-139479000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
48	chr7:139478800-139479000	Enhancers	Primary hematopoietic stem cells	blood
49	chr7:139478800-139479000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:139478800-139479000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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