Variant report

Variant	rs73397501
Chromosome Location	chr7:99039843-99039844
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	POLR2A	chr7:99039752-99039914	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99038361..99041126-chr7:99102588..99104976,2	K562	blood:
2	chr7:99036970..99039265-chr7:99039739..99041583,2	MCF-7	breast:

Variant related genes	Relation type
CPSF4	TF binding region
ENSG00000214314	TF binding region
PTCD1	TF binding region
ENSG00000196652	Chromatin interaction
ENSG00000160917	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28365073	1.00[AMR][1000 genomes]
rs45451206	1.00[AFR][1000 genomes]
rs61743632	1.00[AMR][1000 genomes]
rs73395582	1.00[AMR][1000 genomes]
rs73395595	1.00[AMR][1000 genomes]
rs73397427	1.00[AMR][1000 genomes]
rs73397451	1.00[AMR][1000 genomes]
rs73397486	1.00[AFR][1000 genomes]
rs73403243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403257	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv888769	chr7:99018584-99041748	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv888770	chr7:99021344-99041748	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99037800-99042400	Weak transcription	Aorta	Aorta
2	chr7:99037800-99046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:99038000-99040200	Strong transcription	K562	blood
4	chr7:99038000-99040400	Weak transcription	Primary T cells from cord blood	blood
5	chr7:99038000-99040400	Weak transcription	Fetal Lung	lung
6	chr7:99038000-99040400	Weak transcription	Thymus	Thymus
7	chr7:99038000-99040800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:99038000-99041000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:99038000-99041600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:99038000-99041600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:99038000-99042000	Weak transcription	Lung	lung
12	chr7:99038000-99042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:99038000-99042400	Weak transcription	Fetal Kidney	kidney
14	chr7:99038000-99042600	Weak transcription	HUVEC	blood vessel
15	chr7:99038000-99045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:99038000-99054600	Weak transcription	Stomach Mucosa	stomach
17	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
18	chr7:99038200-99040000	Genic enhancers	H1 Cell Line	embryonic stem cell
19	chr7:99038200-99040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:99038200-99040000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:99038200-99040400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:99038200-99040400	Weak transcription	Left Ventricle	heart
23	chr7:99038200-99040400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:99038200-99040400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:99038200-99040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:99038200-99040600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:99038200-99040600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:99038200-99040800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:99038200-99040800	Weak transcription	Primary B cells from cord blood	blood
30	chr7:99038200-99041000	Weak transcription	Liver	Liver
31	chr7:99038200-99041000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:99038200-99041000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:99038200-99041000	Weak transcription	Fetal Brain Female	brain
34	chr7:99038200-99041200	Weak transcription	Brain Germinal Matrix	brain
35	chr7:99038200-99041200	Weak transcription	Gastric	stomach
36	chr7:99038200-99042000	Weak transcription	Fetal Thymus	thymus
37	chr7:99038200-99042200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:99038200-99042200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:99038200-99042200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:99038200-99042200	Weak transcription	Brain Anterior Caudate	brain
41	chr7:99038200-99042400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:99038200-99042400	Weak transcription	Esophagus	oesophagus
43	chr7:99038200-99042400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:99038200-99042400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:99038200-99042600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:99038200-99042600	Weak transcription	Small Intestine	intestine
47	chr7:99038200-99043400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:99038200-99043600	Weak transcription	Fetal Brain Male	brain
49	chr7:99038200-99045600	Weak transcription	Psoas Muscle	Psoas
50	chr7:99038200-99056200	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links