Variant report

Variant	rs61748978
Chromosome Location	chr16:31155144-31155145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:31155080-31155230	GM12864	blood:	n/a	n/a
2	CTCF	chr16:31155020-31155170	GM12869	blood:	n/a	n/a
3	CTCF	chr16:31155080-31155230	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr16:31155140-31155290	HEK293	kidney:	n/a	n/a
5	CTCF	chr16:31155040-31155190	GM12868	blood:	n/a	n/a
6	CTCF	chr16:31155140-31155290	GM12873	blood:	n/a	n/a
7	CTCF	chr16:31155120-31155270	GM12874	blood:	n/a	n/a
8	CTCF	chr16:31155027-31155263	HepG2	liver:	n/a	n/a
9	CTCF	chr16:31155060-31155210	GM12873	blood:	n/a	n/a
10	CTCF	chr16:31155000-31155150	GM12864	blood:	n/a	n/a
11	CTCF	chr16:31155140-31155290	GM12871	blood:	n/a	n/a
12	CTCF	chr16:31155060-31155210	GM12872	blood:	n/a	n/a
13	CTCF	chr16:31154965-31155315	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr16:31155100-31155250	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr16:31155060-31155210	GM12865	blood:	n/a	n/a
16	CTCF	chr16:31155080-31155230	GM12867	blood:	n/a	n/a
17	CTCF	chr16:31155040-31155190	K562	blood:	n/a	n/a
18	CTCF	chr16:31155100-31155250	GM12870	blood:	n/a	n/a
19	CTCF	chr16:31155100-31155250	HepG2	liver:	n/a	n/a
20	CTCF	chr16:31155060-31155210	HUVEC	blood vessel:	n/a	n/a
21	RAD21	chr16:31154923-31155296	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr16:31155060-31155210	GM12875	blood:	n/a	n/a
23	CTCF	chr16:31155009-31155306	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr16:31155120-31155270	GM12875	blood:	n/a	n/a
25	CTCF	chr16:31155084-31155288	K562	blood:	n/a	n/a
26	CTCF	chr16:31155080-31155230	K562	blood:	n/a	n/a
27	CTCF	chr16:31155102-31155248	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr16:31155060-31155210	GM12864	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31152927..31156733-chr16:31157447..31161176,6	MCF-7	breast:
2	chr16:31105856..31107685-chr16:31152830..31155240,2	MCF-7	breast:
3	chr16:31154879..31157873-chr16:31200398..31203154,2	K562	blood:
4	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
5	chr16:31082745..31087235-chr16:31149717..31155170,6	K562	blood:
6	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:
7	chr16:30960272..30961849-chr16:31152765..31155468,2	K562	blood:
8	chr16:31105355..31107694-chr16:31153094..31155338,3	MCF-7	breast:
9	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
10	chr16:31082041..31086874-chr16:31152182..31155388,6	MCF-7	breast:
11	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
12	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
13	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
14	chr16:30967863..30970561-chr16:31152190..31155312,3	K562	blood:
15	chr16:31152453..31155232-chr16:31471314..31474236,2	K562	blood:

No data

Variant related genes	Relation type
PRSS36	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000140691	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61747561	0.96[AFR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
14	esv3341967	chr16:31152676-31155224	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31153800-31155200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr16:31153800-31155400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:31154200-31155400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr16:31154400-31155200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:31154400-31155400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr16:31154400-31155400	Enhancers	HepG2	liver
7	chr16:31154400-31159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:31154400-31159400	Weak transcription	Pancreas	Pancrea
9	chr16:31154400-31160600	Weak transcription	Hela-S3	cervix
10	chr16:31154400-31190400	Weak transcription	Right Atrium	heart
11	chr16:31154600-31155200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr16:31154600-31157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:31154600-31159400	Weak transcription	Liver	Liver
14	chr16:31154600-31159400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:31154600-31161800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:31154800-31155200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr16:31154800-31155200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:31154800-31155200	Weak transcription	Esophagus	oesophagus
19	chr16:31154800-31156800	Weak transcription	Placenta	Placenta
20	chr16:31154800-31157000	Weak transcription	Fetal Thymus	thymus
21	chr16:31154800-31159200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:31155000-31155200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr16:31155000-31155200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr16:31155000-31155200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:31155000-31155200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:31155000-31155400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:31155000-31156800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr16:31155000-31156800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:31155000-31156800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr16:31155000-31157000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr16:31155000-31159000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:31155000-31159400	Weak transcription	Gastric	stomach
33	chr16:31155000-31159400	Weak transcription	Spleen	Spleen

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