Variant report

Variant	rs73091445
Chromosome Location	chr4:8474127-8474128
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	chr4:8474052-8474363	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr4:8473745-8475523	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:8473991-8474479	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:8474049-8474458	GM12878	blood:	n/a	n/a
5	RCOR1	chr4:8473748-8475315	IMR90	lung:	n/a	n/a
6	POLR2A	chr4:8473996-8474460	GM12892	blood:	n/a	n/a
7	POLR2A	chr4:8473830-8474519	GM12892	blood:	n/a	n/a
8	POLR2A	chr4:8474095-8474395	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:8474059-8474165	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr4:8470406-8476371	K562	blood:	n/a	n/a
11	POLR2A	chr4:8474038-8474287	K562	blood:	n/a	n/a
12	POLR2A	chr4:8474079-8474287	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:8474021-8474341	Hela-S3	cervix:	n/a	n/a
14	MXI1	chr4:8473812-8475319	IMR90	lung:	n/a	n/a
15	POLR2A	chr4:8473972-8474208	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8472717..8474725-chr4:8621251..8624026,2	K562	blood:
2	chr4:8473110..8474734-chr4:8594190..8596233,2	MCF-7	breast:

Variant related genes	Relation type
TRMT44	TF binding region
ENSG00000109625	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56727681	0.91[AFR][1000 genomes]
rs57791741	0.93[AFR][1000 genomes]
rs58254383	0.81[AFR][1000 genomes]
rs73076290	0.86[AFR][1000 genomes]
rs73076294	0.90[AFR][1000 genomes]
rs73087781	0.82[AFR][1000 genomes]
rs73089515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
2	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
6	chr4:8459800-8478800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:8463800-8478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:8465200-8482200	Strong transcription	Brain Germinal Matrix	brain
9	chr4:8465400-8474200	Strong transcription	Gastric	stomach
10	chr4:8465400-8474200	Strong transcription	Spleen	Spleen
11	chr4:8465400-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:8465800-8474200	Strong transcription	Thymus	Thymus
13	chr4:8466600-8474200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:8466600-8474200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:8467600-8475800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:8467600-8482200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:8467800-8474200	Weak transcription	HSMM	muscle
18	chr4:8467800-8480400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:8468000-8478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:8468400-8479600	Weak transcription	Psoas Muscle	Psoas
21	chr4:8470000-8475400	Weak transcription	Small Intestine	intestine
22	chr4:8470600-8479000	Weak transcription	Fetal Brain Male	brain
23	chr4:8471200-8475200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:8471200-8475200	Enhancers	Ovary	ovary
25	chr4:8471200-8476800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:8471200-8477400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:8471200-8480600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:8471400-8474200	Weak transcription	Left Ventricle	heart
29	chr4:8471400-8477200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:8471400-8477400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:8471400-8477400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr4:8471400-8479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:8471400-8480200	Weak transcription	HMEC	breast
34	chr4:8471600-8474200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:8471600-8474200	Weak transcription	HSMMtube	muscle
36	chr4:8471600-8477200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:8471600-8477800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:8471800-8477200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:8471800-8477600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:8471800-8477600	Weak transcription	A549	lung
41	chr4:8471800-8479600	Weak transcription	NHEK	skin
42	chr4:8471800-8480000	Weak transcription	GM12878-XiMat	blood
43	chr4:8471800-8480800	Weak transcription	HepG2	liver
44	chr4:8471800-8483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:8472000-8477000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:8472000-8480200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:8472200-8474400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:8472200-8475600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:8472200-8477400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:8472200-8480800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links