Variant report

Variant	rs73212122
Chromosome Location	chr3:195935466-195935467
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	ELF1	chr3:195935154-195935577	K562	blood:	n/a	chr3:195935370-195935383
2	IRF1	chr3:195934679-195935494	K562	blood:	n/a	n/a
3	EGR1	chr3:195935021-195935583	ECC-1	luminal epithelium:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
4	MAX	chr3:195935074-195935475	K562	blood:	n/a	chr3:195935244-195935253
5	MAX	chr3:195934694-195935705	K562	blood:	n/a	chr3:195935244-195935253
6	MAX	chr3:195935035-195935611	H1-hESC	embryonic stem cell:	n/a	chr3:195935244-195935253
7	USF1	chr3:195934986-195935589	ECC-1	luminal epithelium:	n/a	n/a
8	NR2F2	chr3:195934660-195935614	K562	blood:	n/a	n/a
9	TBL1XR1	chr3:195935257-195935574	K562	blood:	n/a	n/a
10	ELF1	chr3:195935055-195935491	K562	blood:	n/a	chr3:195935370-195935383
11	MAX	chr3:195934699-195935638	ECC-1	luminal epithelium:	n/a	chr3:195935244-195935253
12	MXI1	chr3:195934674-195935654	SK-N-SH	brain:	n/a	chr3:195935526-195935535 chr3:195935243-195935252
13	EGR1	chr3:195935024-195935586	ECC-1	luminal epithelium:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
14	MYC	chr3:195934977-195935516	K562	blood:	n/a	chr3:195935244-195935253
15	YY1	chr3:195935150-195935538	K562	blood:	n/a	n/a
16	E2F6	chr3:195934701-195935639	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr3:195934708-195935483	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr3:195935086-195935495	H1-hESC	embryonic stem cell:	n/a	chr3:195935244-195935253
19	CUX1	chr3:195935268-195935532	K562	blood:	n/a	n/a
20	POLR2A	chr3:195934681-195935546	K562	blood:	n/a	n/a
21	SP1	chr3:195934634-195935499	H1-hESC	embryonic stem cell:	n/a	chr3:195935101-195935112 chr3:195934689-195934703 chr3:195935083-195935094
22	TEAD4	chr3:195935142-195935740	K562	blood:	n/a	n/a
23	POLR2A	chr3:195934676-195935524	ECC-1	luminal epithelium:	n/a	n/a
24	E2F6	chr3:195934753-195935556	K562	blood:	n/a	n/a
25	USF1	chr3:195935011-195935592	ECC-1	luminal epithelium:	n/a	n/a
26	USF1	chr3:195935075-195935517	K562	blood:	n/a	n/a
27	MAX	chr3:195935044-195935628	H1-hESC	embryonic stem cell:	n/a	chr3:195935244-195935253
28	MAX	chr3:195934674-195935641	ECC-1	luminal epithelium:	n/a	chr3:195935244-195935253
29	USF1	chr3:195934999-195935506	H1-hESC	embryonic stem cell:	n/a	n/a
30	CBX3	chr3:195935061-195935503	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195819342..195820879-chr3:195934319..195935878,2	MCF-7	breast:
3	chr3:195935114..195937817-chr3:195940401..195943040,3	K562	blood:
4	chr3:195933623..195937361-chr3:196062207..196065610,4	K562	blood:
5	chr3:195871532..195873508-chr3:195933763..195935660,2	K562	blood:
6	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
7	chr3:195934199..195936662-chr3:196249592..196251250,2	K562	blood:
8	chr3:195932805..195936731-chr3:195940753..195943412,3	MCF-7	breast:
9	chr3:195932381..195937980-chr3:195939061..195944688,8	K562	blood:
10	chr3:195934241..195936316-chr3:196228788..196231012,3	K562	blood:
11	chr3:195807839..195810116-chr3:195932911..195935811,2	MCF-7	breast:

Variant related genes	Relation type
SLC51A	TF binding region
ENSG00000072274	Chromatin interaction
ENSG00000252174	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000163961	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000163959	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56699931	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56850780	0.84[EUR][1000 genomes]
rs59412512	0.89[EUR][1000 genomes]
rs60526982	0.95[EUR][1000 genomes]
rs6770218	0.91[EUR][1000 genomes]
rs73210076	0.89[EUR][1000 genomes]
rs73210077	0.93[EUR][1000 genomes]
rs73210078	0.93[EUR][1000 genomes]
rs73210081	0.95[EUR][1000 genomes]
rs73210084	0.95[EUR][1000 genomes]
rs73210095	0.96[EUR][1000 genomes]
rs73212105	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73212119	0.96[EUR][1000 genomes]
rs73212124	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73212127	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73891224	0.93[EUR][1000 genomes]
rs870070	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
10	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
14	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
15	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
16	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv878175	chr3:195907653-195973244	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1014159	chr3:195908999-195968512	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv32936	chr3:195916045-195940827	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv878176	chr3:195926234-195959924	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv878177	chr3:195929268-195949541	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv878178	chr3:195929268-195998451	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
24	esv3414871	chr3:195933780-195935853	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73212122	SLC51A	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195933800-195935600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr3:195934000-195935600	Enhancers	Esophagus	oesophagus
3	chr3:195934200-195935600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr3:195934200-195936200	Enhancers	Lung	lung
5	chr3:195934400-195935600	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:195934400-195935600	Enhancers	Placenta	Placenta
7	chr3:195934400-195935600	Enhancers	Gastric	stomach
8	chr3:195934400-195935600	Enhancers	Pancreas	Pancrea
9	chr3:195934800-195935600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:195934800-195936800	Enhancers	HepG2	liver
11	chr3:195935000-195935600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:195935000-195935600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr3:195935000-195936000	Enhancers	Ovary	ovary
14	chr3:195935000-195936200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr3:195935000-195936400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:195935000-195937400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:195935000-195938000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:195935000-195946200	Weak transcription	Right Atrium	heart
19	chr3:195935200-195935600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr3:195935200-195935600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:195935200-195935600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr3:195935200-195935600	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:195935200-195935600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr3:195935200-195935600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:195935200-195935600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr3:195935200-195935600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:195935200-195935600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:195935200-195935600	Flanking Active TSS	Liver	Liver
29	chr3:195935200-195935600	Enhancers	Fetal Intestine Large	intestine
30	chr3:195935200-195935600	Flanking Active TSS	K562	blood
31	chr3:195935200-195935800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:195935200-195935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:195935200-195942600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:195935200-195942600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:195935400-195935600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr3:195935400-195935600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
37	chr3:195935400-195935600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:195935400-195935600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:195935400-195935600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:195935400-195935600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr3:195935400-195935600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr3:195935400-195935600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:195935400-195935600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:195935400-195935600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:195935400-195935600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:195935400-195935600	Flanking Active TSS	Spleen	Spleen
47	chr3:195935400-195935800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:195935400-195936200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:195935400-195938000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:195935400-195940600	Weak transcription	Fetal Intestine Small	intestine

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