Variant report

Variant	rs77797058
Chromosome Location	chr4:129730282-129730283
allele	A/T
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	MXI1	chr4:129730257-129734736	IMR90	lung:	n/a	n/a
2	SMC3	chr4:129729992-129732822	SK-N-SH	brain:	n/a	chr4:129732413-129732423
3	CTCF	chr4:129730247-129734217	SK-N-SH	brain:	n/a	chr4:129733243-129733256 chr4:129733527-129733540 chr4:129732410-129732423 chr4:129730800-129730813 chr4:129732484-129732497 chr4:129732753-129732769

No.	Distal block	Cell Line	Cell type
1	chr4:129375160..129378617-chr4:129730147..129733611,3	MCF-7	breast:
2	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
3	chr4:129374782..129377512-chr4:129729521..129732215,3	K562	blood:
4	chr4:129472709..129474756-chr4:129728389..129731319,2	MCF-7	breast:
5	chr4:128980795..128982891-chr4:129730267..129732892,3	K562	blood:
6	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
7	chr4:129206178..129209105-chr4:129728853..129732712,4	K562	blood:
8	chr4:129376012..129378140-chr4:129729596..129731686,2	K562	blood:
9	chr4:129207558..129209105-chr4:129728853..129730896,2	K562	blood:
10	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
11	chr4:129348880..129349601-chr4:129730054..129731203,4	MCF-7	breast:

Variant related genes	Relation type
JADE1	TF binding region
ENSG00000251432	Chromatin interaction
ENSG00000273077	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000248802	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv822717	chr4:129724785-129739862	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a
5	esv3340336	chr4:129730252-129734500	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129723600-129730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:129724800-129730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129725000-129730400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:129725200-129730400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:129725400-129730400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:129725400-129730400	Weak transcription	Stomach Mucosa	stomach
7	chr4:129725600-129730400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:129726200-129730400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:129726200-129730400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:129726200-129730800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:129726200-129731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:129726400-129730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:129726800-129730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:129727200-129730400	Enhancers	Fetal Heart	heart
15	chr4:129727400-129730400	Weak transcription	Placenta	Placenta
16	chr4:129727400-129730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:129729800-129730400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:129730000-129730400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:129730000-129730400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:129730000-129730400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:129730000-129730400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:129730000-129730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:129730000-129730400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:129730000-129730400	Enhancers	Colon Smooth Muscle	Colon
25	chr4:129730000-129730400	Enhancers	Dnd41	blood
26	chr4:129730000-129730400	Enhancers	Hela-S3	cervix
27	chr4:129730000-129730600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:129730000-129734000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:129730200-129730400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:129730200-129730400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:129730200-129730400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:129730200-129730400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:129730200-129730400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:129730200-129730400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:129730200-129730400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:129730200-129730400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr4:129730200-129730400	Enhancers	Primary B cells from cord blood	blood
38	chr4:129730200-129730400	Enhancers	Primary B cells from peripheral blood	blood
39	chr4:129730200-129730400	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr4:129730200-129730400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:129730200-129730400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:129730200-129730400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr4:129730200-129730400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:129730200-129730400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:129730200-129730400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:129730200-129730400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr4:129730200-129730400	Enhancers	Liver	Liver
48	chr4:129730200-129730400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:129730200-129730400	Enhancers	Fetal Lung	lung
50	chr4:129730200-129730400	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links