Variant report

Variant	rs73083217
Chromosome Location	chr3:195934129-195934130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr3:195933835-195934450	K562	blood:	n/a	chr3:195934211-195934222
2	MAZ	chr3:195934082-195934438	K562	blood:	n/a	n/a
3	CBX3	chr3:195934028-195934433	K562	blood:	n/a	n/a
4	ZBTB7A	chr3:195934036-195934423	K562	blood:	n/a	n/a
5	SP4	chr3:195934008-195934422	H1-hESC	embryonic stem cell:	n/a	n/a
6	IRF1	chr3:195933924-195934471	K562	blood:	n/a	n/a
7	E2F6	chr3:195934072-195934341	K562	blood:	n/a	chr3:195934211-195934222
8	YY1	chr3:195934058-195934432	K562	blood:	n/a	n/a
9	ZBTB7A	chr3:195933974-195934452	ECC-1	luminal epithelium:	n/a	n/a
10	JUN	chr3:195934039-195934239	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZBTB7A	chr3:195934075-195934448	K562	blood:	n/a	n/a
12	MYC	chr3:195933947-195934416	K562	blood:	n/a	n/a
13	ZBTB7A	chr3:195933761-195934538	ECC-1	luminal epithelium:	n/a	n/a
14	E2F6	chr3:195933995-195934428	H1-hESC	embryonic stem cell:	n/a	chr3:195934211-195934222
15	MAX	chr3:195933737-195934447	K562	blood:	n/a	chr3:195933872-195933887 chr3:195933876-195933886
16	POLR2A	chr3:195934075-195934606	K562	blood:	n/a	n/a
17	MAX	chr3:195933676-195934144	H1-hESC	embryonic stem cell:	n/a	chr3:195933872-195933887 chr3:195933876-195933886
18	MAX	chr3:195933937-195934448	ECC-1	luminal epithelium:	n/a	n/a
19	E2F6	chr3:195934058-195934419	K562	blood:	n/a	chr3:195934211-195934222
20	SMC3	chr3:195934129-195934354	K562	blood:	n/a	n/a
21	NR2F2	chr3:195933697-195934163	K562	blood:	n/a	n/a
22	TEAD4	chr3:195933855-195934404	K562	blood:	n/a	chr3:195934006-195934015
23	ZKSCAN1	chr3:195934079-195934166	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr3:195933454-195934420	H1-hESC	embryonic stem cell:	n/a	chr3:195934211-195934222
25	BACH1	chr3:195933888-195934343	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr3:195934042-195934294	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195933623..195937361-chr3:196062207..196065610,4	K562	blood:
3	chr3:195921230..195923242-chr3:195932657..195935379,3	K562	blood:
4	chr3:195871532..195873508-chr3:195933763..195935660,2	K562	blood:
5	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
6	chr3:195807633..195809874-chr3:195932027..195934415,2	MCF-7	breast:
7	chr3:195928850..195930702-chr3:195933758..195935376,2	K562	blood:
8	chr3:195932805..195936731-chr3:195940753..195943412,3	MCF-7	breast:
9	chr3:195932381..195937980-chr3:195939061..195944688,8	K562	blood:
10	chr3:195933308..195935063-chr3:196012646..196014729,2	K562	blood:
11	chr3:195785800..195787817-chr3:195933272..195935251,2	K562	blood:
12	chr3:195933778..195935330-chr3:195950925..195952641,2	MCF-7	breast:
13	chr3:195933131..195935157-chr3:196159454..196161102,2	K562	blood:
14	chr3:195807839..195810116-chr3:195932911..195935811,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC51A	TF binding region
ENSG00000273331	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000252174	Chromatin interaction
ENSG00000222335	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000163959	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs56911964	1.00[EUR][1000 genomes]
rs58700777	1.00[EUR][1000 genomes]
rs58864991	1.00[EUR][1000 genomes]
rs59710182	1.00[EUR][1000 genomes]
rs59713295	1.00[EUR][1000 genomes]
rs60648170	1.00[EUR][1000 genomes]
rs61056092	1.00[EUR][1000 genomes]
rs61099590	1.00[EUR][1000 genomes]
rs61274928	1.00[EUR][1000 genomes]
rs6770976	1.00[EUR][1000 genomes]
rs6810012	1.00[EUR][1000 genomes]
rs73074940	1.00[EUR][1000 genomes]
rs73074942	1.00[EUR][1000 genomes]
rs73074955	1.00[EUR][1000 genomes]
rs73074956	1.00[EUR][1000 genomes]
rs73077031	1.00[EUR][1000 genomes]
rs73077038	1.00[EUR][1000 genomes]
rs73077068	1.00[EUR][1000 genomes]
rs73077071	1.00[EUR][1000 genomes]
rs73083213	1.00[EUR][1000 genomes]
rs73083214	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73083235	1.00[EUR][1000 genomes]
rs73083237	1.00[EUR][1000 genomes]
rs73083239	1.00[EUR][1000 genomes]
rs73083243	1.00[EUR][1000 genomes]
rs73083244	1.00[EUR][1000 genomes]
rs73084675	1.00[EUR][1000 genomes]
rs73086605	1.00[EUR][1000 genomes]
rs73086612	1.00[EUR][1000 genomes]
rs73086630	1.00[EUR][1000 genomes]
rs73086658	1.00[EUR][1000 genomes]
rs73086659	1.00[EUR][1000 genomes]
rs73086666	1.00[EUR][1000 genomes]
rs73086670	1.00[EUR][1000 genomes]
rs73086675	1.00[EUR][1000 genomes]
rs73088704	1.00[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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195922000-195934200	Weak transcription	Right Ventricle	heart
2	chr3:195923800-195934200	Weak transcription	Thymus	Thymus
3	chr3:195932800-195934800	Weak transcription	HepG2	liver
4	chr3:195933600-195934200	Enhancers	Pancreas	Pancrea
5	chr3:195933600-195934200	Flanking Active TSS	K562	blood
6	chr3:195933600-195934400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:195933600-195935200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr3:195933600-195935400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr3:195933800-195934200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr3:195933800-195934200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:195933800-195934200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr3:195933800-195934200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr3:195933800-195934200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:195933800-195934200	Bivalent Enhancer	Brain Germinal Matrix	brain
15	chr3:195933800-195934200	Enhancers	Gastric	stomach
16	chr3:195933800-195934400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr3:195933800-195934400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:195933800-195934400	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr3:195933800-195934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr3:195933800-195934400	ZNF genes & repeats	Spleen	Spleen
25	chr3:195933800-195934400	Bivalent/Poised TSS	NHEK	skin
26	chr3:195933800-195934800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:195933800-195934800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:195933800-195934800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:195933800-195935000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr3:195933800-195935000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:195933800-195935000	Enhancers	GM12878-XiMat	blood
32	chr3:195933800-195935200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr3:195933800-195935400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr3:195933800-195935600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:195934000-195934200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:195934000-195934200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:195934000-195934200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:195934000-195934200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:195934000-195934200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:195934000-195934200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:195934000-195934200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr3:195934000-195934200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr3:195934000-195934200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:195934000-195934200	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr3:195934000-195934200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
46	chr3:195934000-195934200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
47	chr3:195934000-195934200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr3:195934000-195934200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr3:195934000-195934200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr3:195934000-195934200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain

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