Variant report

Variant	rs35566795
Chromosome Location	chr17:46702683-46702684
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	POLR2A	chr17:46702265-46702842	K562	blood:	n/a	n/a
2	JUND	chr17:46702318-46704349	A549	lung:	n/a	chr17:46702705-46702719 chr17:46702793-46702807 chr17:46702634-46702648 chr17:46703061-46703070
3	SIN3AK20	chr17:46702212-46702808	K562	blood:	n/a	n/a
4	POLR2A	chr17:46701823-46705617	K562	blood:	n/a	n/a
5	SUZ12	chr17:46701724-46704029	NT2-D1	testis:	n/a	n/a
6	ZMIZ1	chr17:46702578-46702719	K562	blood:	n/a	n/a
7	POLR2A	chr17:46702363-46702796	A549	lung:	n/a	n/a
8	REST	chr17:46702455-46702882	PANC-1	pancreas:	n/a	chr17:46702669-46702682 chr17:46702760-46702773 chr17:46702749-46702762 chr17:46702746-46702759
9	MAX	chr17:46702435-46703015	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:46702158-46704945	K562	blood:	n/a	n/a
11	PBX3	chr17:46702358-46704212	A549	lung:	n/a	n/a
12	CTBP2	chr17:46702122-46703678	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:46701890-46705619	K562	blood:	n/a	n/a
14	TCF7L2	chr17:46702610-46704030	PANC-1	pancreas:	n/a	n/a
15	UBTF	chr17:46701859-46704464	K562	blood:	n/a	n/a
16	YY1	chr17:46702392-46702878	K562	blood:	n/a	chr17:46702466-46702480 chr17:46702752-46702766 chr17:46702746-46702760
17	POLR2A	chr17:46701711-46705055	HCT-116	colon:	n/a	n/a
18	POLR2A	chr17:46702081-46704696	K562	blood:	n/a	n/a
19	BCL3	chr17:46702381-46704398	A549	lung:	n/a	chr17:46703060-46703073 chr17:46704079-46704092 chr17:46704077-46704086 chr17:46704080-46704089 chr17:46703678-46703687 chr17:46702505-46702514 chr17:46702511-46702520 chr17:46703740-46703753 chr17:46704086-46704095
20	SP1	chr17:46702339-46702857	H1-hESC	embryonic stem cell:	n/a	chr17:46702510-46702522 chr17:46702622-46702643 chr17:46702512-46702521 chr17:46702510-46702522 chr17:46702458-46702467 chr17:46702456-46702468 chr17:46702511-46702520 chr17:46702477-46702486 chr17:46702456-46702468 chr17:46702618-46702629 chr17:46702753-46702767 chr17:46702619-46702633 chr17:46702457-46702466
21	POLR2A	chr17:46702370-46702784	A549	lung:	n/a	n/a
22	MYC	chr17:46702600-46702735	K562	blood:	n/a	n/a
23	CHD2	chr17:46702406-46703067	H1-hESC	embryonic stem cell:	n/a	chr17:46702662-46702672
24	YY1	chr17:46702250-46703057	H1-hESC	embryonic stem cell:	n/a	chr17:46702466-46702480 chr17:46702752-46702766 chr17:46702746-46702760
25	POLR2A	chr17:46702175-46704419	NB4	blood:	n/a	n/a
26	POLR2A	chr17:46692107-46708447	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr17:46701690-46705809	K562	blood:	n/a	n/a
28	CREB1	chr17:46702271-46702964	A549	lung:	n/a	n/a
29	EGR1	chr17:46702554-46704811	HCT-116	colon:	n/a	chr17:46704081-46704095 chr17:46704095-46704109 chr17:46702898-46702908 chr17:46704083-46704093 chr17:46703060-46703070 chr17:46703759-46703772 chr17:46704079-46704089 chr17:46704080-46704093 chr17:46702754-46702764 chr17:46704713-46704726 chr17:46704080-46704094 chr17:46704080-46704093 chr17:46704079-46704094 chr17:46704080-46704093 chr17:46704083-46704092
30	SIN3AK20	chr17:46702464-46702774	A549	lung:	n/a	n/a
31	POLR2A	chr17:46695067-46708834	K562	blood:	n/a	n/a
32	TCF12	chr17:46701920-46704621	A549	lung:	n/a	n/a
33	TAF1	chr17:46702402-46702793	K562	blood:	n/a	n/a
34	TCF7L2	chr17:46702509-46704160	HCT-116	colon:	n/a	n/a
35	POLR2A	chr17:46685805-46708856	PANC-1	pancreas:	n/a	n/a
36	FOS	chr17:46702497-46703167	HUVEC	blood vessel:	n/a	chr17:46702705-46702719 chr17:46702793-46702807 chr17:46702634-46702648 chr17:46703061-46703070
37	POLR2A	chr17:46702377-46703751	A549	lung:	n/a	n/a
38	ZNF143	chr17:46702503-46702822	H1-hESC	embryonic stem cell:	n/a	chr17:46702756-46702766
39	TCF12	chr17:46702355-46702689	A549	lung:	n/a	n/a
40	HEY1	chr17:46702361-46704544	K562	blood:	n/a	chr17:46704077-46704092 chr17:46704080-46704095 chr17:46703893-46703908 chr17:46704027-46704042
41	GABPA	chr17:46702481-46702810	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr17:46702357-46704289	NB4	blood:	n/a	chr17:46703964-46703973 chr17:46703065-46703075 chr17:46703749-46703759
43	POLR2A	chr17:46702346-46703059	A549	lung:	n/a	n/a
44	MAX	chr17:46702296-46704302	A549	lung:	n/a	chr17:46703964-46703973 chr17:46703065-46703075 chr17:46703749-46703759
45	EGR1	chr17:46702198-46703665	H1-hESC	embryonic stem cell:	n/a	chr17:46702898-46702908 chr17:46703060-46703070 chr17:46702754-46702764
46	TCF12	chr17:46702416-46702745	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr17:46702500-46702864	ECC-1	luminal epithelium:	n/a	n/a
48	UBTF	chr17:46701700-46704430	K562	blood:	n/a	n/a
49	MAZ	chr17:46702137-46705806	K562	blood:	n/a	chr17:46703964-46703973 chr17:46703065-46703075 chr17:46703749-46703759 chr17:46704706-46704715
50	MAX	chr17:46702257-46704279	NB4	blood:	n/a	chr17:46703964-46703973 chr17:46703065-46703075 chr17:46703749-46703759

No.	Distal block	Cell Line	Cell type
1	chr17:46605320..46607362-chr17:46701075..46703388,2	K562	blood:
2	chr17:46701571..46706598-chr17:47072048..47076281,6	K562	blood:
3	chr17:46618868..46624573-chr17:46700689..46705978,10	K562	blood:
4	chr1:114005229..114005823-chr17:46702092..46702703,2	NB4	blood:
5	chr1:205717410..205719501-chr17:46701728..46703623,2	K562	blood:
6	chr17:46702504..46704367-chr17:46986949..46989512,2	K562	blood:
7	chr17:46130623..46133195-chr17:46701253..46702809,2	K562	blood:
8	chr17:46701313..46703636-chr17:46794092..46795763,2	K562	blood:
9	chr17:46383770..46386641-chr17:46700022..46702743,2	K562	blood:
10	chr17:46369748..46372515-chr17:46702166..46704377,2	K562	blood:
11	chr17:46700166..46702886-chr17:46980635..46983541,2	K562	blood:
12	chr17:46123925..46127532-chr17:46701622..46704234,4	K562	blood:

Variant related genes	Relation type
HOXB-AS4	TF binding region
ENSG00000235300	Chromatin interaction
ENSG00000230148	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000159217	Chromatin interaction
ENSG00000159202	Chromatin interaction
ENSG00000069275	Chromatin interaction
ENSG00000173917	Chromatin interaction
ENSG00000250838	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12940554	1.00[AMR][1000 genomes]
rs12952112	1.00[AMR][1000 genomes]
rs34008507	1.00[AMR][1000 genomes]
rs35186512	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
5	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
6	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
7	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
9	nsv908583	chr17:46617019-46704536	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
10	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
11	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
12	nsv457823	chr17:46620402-46704536	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
13	nsv575482	chr17:46620402-46704536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
14	nsv543380	chr17:46686151-46721371	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46698200-46703400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr17:46698400-46703000	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr17:46698800-46704200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr17:46700000-46702800	Weak transcription	Gastric	stomach
5	chr17:46700800-46704000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:46701800-46703600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr17:46701800-46704400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr17:46702000-46702800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:46702000-46702800	Bivalent Enhancer	Fetal Lung	lung
10	chr17:46702000-46702800	Bivalent Enhancer	Placenta	Placenta
11	chr17:46702000-46703200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
12	chr17:46702000-46704400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:46702000-46704600	Bivalent Enhancer	Fetal Thymus	thymus
14	chr17:46702200-46702800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr17:46702200-46702800	Bivalent Enhancer	Primary B cells from cord blood	blood
16	chr17:46702200-46702800	Bivalent/Poised TSS	Small Intestine	intestine
17	chr17:46702200-46702800	Bivalent Enhancer	Spleen	Spleen
18	chr17:46702200-46702800	Bivalent Enhancer	GM12878-XiMat	blood
19	chr17:46702200-46703000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
20	chr17:46702200-46703000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
21	chr17:46702200-46703000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr17:46702200-46703200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:46702200-46703200	Bivalent Enhancer	Liver	Liver
24	chr17:46702200-46703200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr17:46702200-46703600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:46702200-46703600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr17:46702200-46703600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr17:46702200-46703600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr17:46702200-46703600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
30	chr17:46702200-46703600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr17:46702200-46703600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:46702200-46703600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:46702200-46703600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:46702200-46703600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr17:46702200-46704000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:46702200-46704000	Bivalent Enhancer	Fetal Brain Male	brain
37	chr17:46702200-46704000	Active TSS	A549	lung
38	chr17:46702200-46704200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr17:46702200-46704200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:46702200-46704200	Bivalent Enhancer	Lung	lung
41	chr17:46702200-46704200	Bivalent/Poised TSS	Thymus	Thymus
42	chr17:46702200-46704200	Bivalent/Poised TSS	HSMM	muscle
43	chr17:46702200-46704400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:46702200-46704400	Active TSS	K562	blood
45	chr17:46702400-46702800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:46702400-46702800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr17:46702400-46702800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr17:46702400-46702800	Bivalent Enhancer	Left Ventricle	heart
49	chr17:46702400-46702800	Enhancers	Pancreas	Pancrea
50	chr17:46702400-46702800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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