Variant report

Variant	rs55944801
Chromosome Location	chr3:137838200-137838201
allele	G/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	CTCF	chr3:137838200-137838350	GM12870	blood:	n/a	n/a
2	CTCF	chr3:137838080-137838230	GM12874	blood:	n/a	n/a
3	CTCF	chr3:137837696-137838216	IMR90	lung:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
4	STAT3	chr3:137838136-137838322	MCF10A-Er-Src	breast:	n/a	chr3:137838279-137838286
5	RAD21	chr3:137837452-137838522	SK-N-SH	brain:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
6	CTCF	chr3:137837583-137838298	HCT-116	colon:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
7	CTCF	chr3:137838200-137838350	SK-N-SH_RA	brain:	n/a	n/a
8	ZNF143	chr3:137837759-137838345	Hela-S3	cervix:	n/a	chr3:137837972-137837981
9	CTCF	chr3:137837592-137838219	MCF-7	breast:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
10	CTCF	chr3:137837693-137838219	GM12878	blood:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
11	CTCF	chr3:137837437-137838465	SK-N-SH	brain:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
12	SMC3	chr3:137837114-137838521	SK-N-SH	brain:	n/a	chr3:137838445-137838455 chr3:137837906-137837920
13	RAD21	chr3:137837539-137838229	A549	lung:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
14	SPI1	chr3:137837788-137838228	HL-60	blood:	n/a	n/a
15	RAD21	chr3:137837643-137838208	MCF-7	breast:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
16	RAD21	chr3:137837649-137838233	ECC-1	luminal epithelium:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
17	CTCF	chr3:137837575-137838226	HCT-116	colon:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
18	RAD21	chr3:137837572-137838209	H1-hESC	embryonic stem cell:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
19	RAD21	chr3:137837475-137838307	HCT-116	colon:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
20	CTCF	chr3:137837679-137838235	MCF-7	breast:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
21	CTCF	chr3:137837525-137838362	A549	lung:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922

No.	Distal block	Cell Line	Cell type
1	chr3:137786807..137788879-chr3:137836537..137838505,22	MCF-7	breast:
2	chr3:137785795..137788680-chr3:137836157..137838933,3	MCF-7	breast:
3	chr3:137787211..137788408-chr3:137837411..137838466,26	MCF-7	breast:
4	chr3:137787348..137788077-chr3:137837494..137838376,4	K562	blood:

Variant related genes	Relation type
DZIP1L	TF binding region
ENSG00000158163	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58033156	1.00[AMR][1000 genomes]
rs73867010	1.00[AMR][1000 genomes]
rs73867012	1.00[AMR][1000 genomes]
rs73867015	1.00[AMR][1000 genomes]
rs73867017	1.00[AMR][1000 genomes]
rs73867043	1.00[AMR][1000 genomes]
rs73867045	1.00[AMR][1000 genomes]
rs7634984	1.00[AMR][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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137834800-137843000	Weak transcription	Placenta	Placenta
2	chr3:137834800-137843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:137835000-137843600	Weak transcription	Right Ventricle	heart
4	chr3:137835200-137843200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:137835200-137843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:137835200-137843600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:137835200-137843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:137835400-137843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:137835400-137844200	Weak transcription	A549	lung
10	chr3:137835800-137843600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:137837200-137838200	Enhancers	Fetal Heart	heart
12	chr3:137837400-137838400	Enhancers	Fetal Muscle Leg	muscle
13	chr3:137837400-137838600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:137837600-137838200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:137837600-137838400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:137837600-137838400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:137837600-137838400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:137837600-137838400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr3:137837600-137838400	Enhancers	Fetal Muscle Trunk	muscle
20	chr3:137837600-137838400	Enhancers	Fetal Stomach	stomach
21	chr3:137837600-137838400	Enhancers	Stomach Mucosa	stomach
22	chr3:137837600-137838400	Enhancers	Hela-S3	cervix
23	chr3:137837600-137838400	Enhancers	HSMM	muscle
24	chr3:137837600-137839600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr3:137837800-137838200	Enhancers	HepG2	liver
26	chr3:137837800-137838400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:137837800-137838400	Enhancers	Spleen	Spleen
28	chr3:137838000-137843400	Weak transcription	Osteobl	bone
29	chr3:137838000-137843600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:137838000-137844600	Weak transcription	Adipose Nuclei	Adipose
31	chr3:137838200-137843600	Weak transcription	Fetal Heart	heart

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