Variant report

Variant	rs35434409
Chromosome Location	chr4:152611674-152611675
allele	C/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	GATA3	chr4:152611079-152612163	SK-N-SH	brain:	n/a	chr4:152611805-152611813 chr4:152612066-152612076 chr4:152611684-152611695 chr4:152612012-152612021 chr4:152611460-152611471
2	FOSL2	chr4:152611133-152611954	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr4:152611143-152611944	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr4:152611039-152612586	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr4:152611566-152611969	T-47D	breast:	n/a	chr4:152611805-152611813 chr4:152611684-152611695
6	GATA3	chr4:152611277-152612014	SH-SY5Y	brain:	n/a	chr4:152611805-152611813 chr4:152611684-152611695 chr4:152611460-152611471
7	TEAD4	chr4:152611045-152611945	SK-N-SH	brain:	n/a	n/a
8	JUND	chr4:152611167-152611974	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr4:152611295-152612258	SH-SY5Y	brain:	n/a	chr4:152611805-152611813 chr4:152612066-152612076 chr4:152611684-152611695 chr4:152612012-152612021 chr4:152611460-152611471
10	EP300	chr4:152611053-152611889	SK-N-SH	brain:	n/a	chr4:152611574-152611583
11	TCF12	chr4:152611057-152612357	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr4:152611226-152611674	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr4:152611165-152611847	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr4:152611058-152612429	SK-N-SH	brain:	n/a	chr4:152611805-152611813 chr4:152612066-152612076 chr4:152611684-152611695 chr4:152612012-152612021 chr4:152611460-152611471
15	PBX3	chr4:152611101-152612160	SK-N-SH	brain:	n/a	n/a
16	JUND	chr4:152611128-152611830	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152609052..152613001-chr4:152620763..152623852,3	MCF-7	breast:
2	chr4:152609295..152612120-chr4:152614699..152616542,2	K562	blood:

Variant related genes	Relation type
PET112	TF binding region
ENSG00000059691	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1107797	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12649199	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17275724	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62328981	0.89[ASN][1000 genomes]
rs62328982	0.89[ASN][1000 genomes]
rs72730165	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4551	chr4:152582617-152627367	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1026511	chr4:152593382-152611915	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152563800-152625200	Weak transcription	Hela-S3	cervix
2	chr4:152585600-152628600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:152585800-152640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:152589200-152619200	Weak transcription	Dnd41	blood
5	chr4:152591200-152646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:152592600-152636400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:152596200-152624000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:152596400-152627800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:152596400-152628600	Weak transcription	Colonic Mucosa	Colon
10	chr4:152596400-152640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:152597000-152612000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:152598000-152612000	Weak transcription	Brain Germinal Matrix	brain
13	chr4:152598400-152648200	Weak transcription	HMEC	breast
14	chr4:152598800-152620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:152599000-152637200	Weak transcription	GM12878-XiMat	blood
16	chr4:152600600-152626200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:152601200-152612000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:152603000-152623200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:152604800-152620600	Weak transcription	Pancreas	Pancrea
20	chr4:152605400-152628600	Weak transcription	Aorta	Aorta
21	chr4:152606000-152614800	Enhancers	Left Ventricle	heart
22	chr4:152606200-152614400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:152606200-152617600	Enhancers	Fetal Heart	heart
24	chr4:152606400-152612600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:152607400-152614000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:152607800-152613600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:152607800-152614200	Enhancers	Psoas Muscle	Psoas
28	chr4:152608000-152612200	Enhancers	Colon Smooth Muscle	Colon
29	chr4:152608000-152612400	Enhancers	HSMMtube	muscle
30	chr4:152608000-152612600	Enhancers	NH-A	brain
31	chr4:152608000-152613000	Strong transcription	Primary T cells from cord blood	blood
32	chr4:152608000-152613000	Enhancers	NHEK	skin
33	chr4:152608000-152613200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:152608000-152613200	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:152608000-152613400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:152608000-152614800	Enhancers	Fetal Lung	lung
37	chr4:152608000-152615000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:152608000-152615000	Enhancers	HSMM	muscle
39	chr4:152608000-152617800	Enhancers	Fetal Brain Male	brain
40	chr4:152608200-152613400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:152608400-152612400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:152608400-152621200	Weak transcription	Ovary	ovary
43	chr4:152608800-152612000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr4:152608800-152613200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:152608800-152622200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:152609000-152622800	Weak transcription	A549	lung
47	chr4:152609200-152614600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:152609200-152622200	Weak transcription	Placenta	Placenta
49	chr4:152609200-152640200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:152609400-152612600	Enhancers	Skeletal Muscle Male	skeletal muscle

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