Variant report

Variant	rs7639582
Chromosome Location	chr3:137837625-137837626
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	RAD21	chr3:137837473-137838190	HCT-116	colon:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
2	RAD21	chr3:137837549-137838078	SK-N-SH_RA	brain:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
3	CTCF	chr3:137837582-137837664	GM19238	blood:	n/a	n/a
4	RAD21	chr3:137837452-137838522	SK-N-SH	brain:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
5	CTCF	chr3:137837500-137837650	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr3:137837583-137838298	HCT-116	colon:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
7	RCOR1	chr3:137837462-137837968	HepG2	liver:	n/a	n/a
8	CTCF	chr3:137837592-137838219	MCF-7	breast:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
9	CTCF	chr3:137837437-137838465	SK-N-SH	brain:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
10	SMC3	chr3:137837114-137838521	SK-N-SH	brain:	n/a	chr3:137838445-137838455 chr3:137837906-137837920
11	RAD21	chr3:137837539-137838229	A549	lung:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
12	CTCF	chr3:137837606-137838127	K562	blood:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
13	SMC3	chr3:137837601-137838085	K562	blood:	n/a	chr3:137837906-137837920
14	CTCF	chr3:137837575-137838226	HCT-116	colon:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
15	RAD21	chr3:137837622-137838181	A549	lung:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
16	RAD21	chr3:137837572-137838209	H1-hESC	embryonic stem cell:	n/a	chr3:137837902-137837921 chr3:137837904-137837916
17	CTCF	chr3:137837605-137837678	GM19240	blood:	n/a	n/a
18	RAD21	chr3:137837539-137838176	ECC-1	luminal epithelium:	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	chr3:137837525-137838362	A549	lung:	n/a	chr3:137837906-137837919 chr3:137837899-137837920 chr3:137837904-137837922
21	RAD21	chr3:137837545-137838190	MCF-7	breast:	n/a	chr3:137837902-137837921 chr3:137837904-137837916

No.	Distal block	Cell Line	Cell type
1	chr3:137820273..137821044-chr3:137837392..137837964,2	MCF-7	breast:
2	chr3:137786807..137788879-chr3:137836537..137838505,22	MCF-7	breast:
3	chr3:137785795..137788680-chr3:137836157..137838933,3	MCF-7	breast:
4	chr3:137787211..137788408-chr3:137837411..137838466,26	MCF-7	breast:
5	chr3:137789176..137789822-chr3:137837460..137838165,2	MCF-7	breast:
6	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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10513051	1.00[AMR][1000 genomes]
rs16847860	0.81[AFR][1000 genomes]
rs16847862	0.85[AFR][1000 genomes]
rs16847928	1.00[AMR][1000 genomes]
rs16847930	1.00[AMR][1000 genomes]
rs16847937	1.00[AMR][1000 genomes]
rs6439786	0.85[AFR][1000 genomes]
rs6768849	0.85[AFR][1000 genomes]
rs6769030	0.85[AFR][1000 genomes]
rs6786304	0.85[AFR][1000 genomes]
rs73864514	1.00[AMR][1000 genomes]
rs7621678	0.85[AFR][1000 genomes]
rs7639632	0.92[AFR][1000 genomes];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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137834800-137837800	Weak transcription	Spleen	Spleen
2	chr3:137834800-137843000	Weak transcription	Placenta	Placenta
3	chr3:137834800-137843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:137835000-137843600	Weak transcription	Right Ventricle	heart
5	chr3:137835200-137843200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:137835200-137843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:137835200-137843600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:137835200-137843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:137835400-137843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:137835400-137844200	Weak transcription	A549	lung
11	chr3:137835800-137843600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:137836800-137838000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:137836800-137838000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:137836800-137838000	Enhancers	Adipose Nuclei	Adipose
15	chr3:137837000-137838000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:137837200-137838200	Enhancers	Fetal Heart	heart
17	chr3:137837400-137837800	Enhancers	Pancreas	Pancrea
18	chr3:137837400-137838000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:137837400-137838000	Enhancers	NHDF-Ad	bronchial
20	chr3:137837400-137838000	Enhancers	NHLF	lung
21	chr3:137837400-137838000	Enhancers	Osteobl	bone
22	chr3:137837400-137838400	Enhancers	Fetal Muscle Leg	muscle
23	chr3:137837400-137838600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:137837600-137837800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:137837600-137837800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:137837600-137837800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:137837600-137837800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:137837600-137837800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr3:137837600-137837800	Flanking Active TSS	HepG2	liver
30	chr3:137837600-137838000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:137837600-137838200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:137837600-137838400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:137837600-137838400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:137837600-137838400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:137837600-137838400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr3:137837600-137838400	Enhancers	Fetal Muscle Trunk	muscle
37	chr3:137837600-137838400	Enhancers	Fetal Stomach	stomach
38	chr3:137837600-137838400	Enhancers	Stomach Mucosa	stomach
39	chr3:137837600-137838400	Enhancers	Hela-S3	cervix
40	chr3:137837600-137838400	Enhancers	HSMM	muscle
41	chr3:137837600-137839600	Enhancers	Primary neutrophils fromperipheralblood	blood

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