Variant report

Variant	rs61746400
Chromosome Location	chr16:31501642-31501643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31499234-31501990	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr16:31499630-31501903	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr16:31498558-31502617	HL-60	blood:	n/a	n/a
4	POLR2A	chr16:31498426-31501814	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr16:31501240-31501714	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:31501271-31501881	GM12878	blood:	n/a	n/a
7	ZNF263	chr16:31501460-31501962	HEK293-T-REx	kidney:	n/a	n/a
8	POLR2A	chr16:31498390-31502669	K562	blood:	n/a	n/a
9	POLR2A	chr16:31498548-31502219	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31501642-31501692	HRPEpiC	eye:	n/a
2	chr16:31501642-31501692	MCF-7	breast:	n/a
3	chr16:31501642-31501692	HMEC	breast:	n/a
4	chr16:31501642-31501692	BE2_C	brain:	n/a
5	chr16:31501642-31501692	AG04449	skin:	fetal
6	chr16:31501642-31501692	GM12892	blood:	n/a
7	chr16:31501642-31501692	AG04450	lung:	fetal
8	chr16:31501642-31501692	BJ	skin:	n/a
9	chr16:31501642-31501692	NB4	blood:	n/a
10	chr16:31501642-31501692	K562	blood:	n/a
11	chr16:31501642-31501692	MCF10A-Er-Src	breast:	n/a
12	chr16:31501642-31501692	AG09309	skin:	n/a
13	chr16:31501642-31501692	HNPCEpiC	eye:	n/a
14	chr16:31501642-31501692	LNCaP	prostate:	n/a
15	chr16:31501642-31501692	PANC-1	pancreas:	n/a
16	chr16:31501642-31501692	HAEpiC	amniotic membrane:	n/a
17	chr16:31501642-31501692	HEEpiC	esophagus:	n/a
18	chr16:31501642-31501692	ProgFib	skin:	n/a
19	chr16:31501642-31501692	SKMC	muscle:	n/a
20	chr16:31501642-31501692	IMR90	lung:	fetal
21	chr16:31501642-31501692	A549	lung:	n/a
22	chr16:31501642-31501692	PrEC	prostate:	n/a
23	chr16:31501642-31501692	HCM	heart:	n/a
24	chr16:31501642-31501692	NHBE	bronchial:	n/a
25	chr16:31501642-31501692	SK-N-SH_RA	brain:	n/a
26	chr16:31501642-31501692	RPTEC	kidney:	n/a
27	chr16:31501642-31501692	SK-N-SH	brain:	n/a
28	chr16:31501642-31501692	AG10803	skin:	n/a
29	chr16:31501642-31501692	HUVEC	blood vessel:	n/a
30	chr16:31501642-31501692	AoSMC	blood vessel:	n/a
31	chr16:31501642-31501692	NH-A	brain:	n/a
32	chr16:31501642-31501692	HCPEpiC	choroid plexus:	n/a
33	chr16:31501642-31501692	HRCEpiC	kidney:	n/a
34	chr16:31501642-31501692	GM12891	blood:	n/a
35	chr16:31501642-31501692	SK-N-MC	brain:	n/a
36	chr16:31501642-31501692	CMK	blood:	n/a
37	chr16:31501642-31501692	GM06990	blood:	n/a
38	chr16:31501642-31501692	Caco-2	colon:	n/a
39	chr16:31501642-31501692	NHDF-neo	bronchial:	n/a
40	chr16:31501642-31501692	GM19239	blood:	n/a
41	chr16:31501642-31501692	AG09319	gingival:	n/a
42	chr16:31501642-31501692	GM12878	blood:	n/a
43	chr16:31501642-31501692	ECC-1	luminal epithelium:	n/a
44	chr16:31501642-31501692	HIPEpiC	eye:	n/a
45	chr16:31501642-31501692	H1-hESC	embryonic stem cell:	embryo
46	chr16:31501642-31501692	HPAEpiC	pulmonary alveolar:	n/a
47	chr16:31501642-31501692	PFSK-1	brain:	n/a
48	chr16:31501642-31501692	HEK293	kidney:	embryo
49	chr16:31501642-31501692	HL-60	blood:	n/a
50	chr16:31501642-31501692	HepG2	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31494438..31500083-chr16:31500912..31506203,9	K562	blood:
2	chr16:31497480..31508766-chr16:31514543..31521176,19	MCF-7	breast:
3	chr16:31500939..31502895-chr16:31503671..31505945,2	K562	blood:
4	chr16:31468059..31475073-chr16:31494279..31502185,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260740	TF binding region
ENSG00000260740	CpG island
ENSG00000260625	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000140688	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs36018996	1.00[AMR][1000 genomes]
rs41371846	1.00[AMR][1000 genomes]
rs41520646	1.00[AMR][1000 genomes]
rs57483806	1.00[AMR][1000 genomes]
rs58114676	1.00[AMR][1000 genomes]
rs61739535	1.00[AMR][1000 genomes]
rs74015554	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv482193	chr16:31494439-31502091	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
11	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31496200-31503600	Weak transcription	K562	blood
2	chr16:31497000-31501800	Weak transcription	Dnd41	blood
3	chr16:31499600-31503800	Weak transcription	A549	lung
4	chr16:31499600-31504400	Weak transcription	Fetal Kidney	kidney
5	chr16:31499800-31503000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:31499800-31503200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:31499800-31503200	Weak transcription	Fetal Thymus	thymus
8	chr16:31499800-31504800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:31499800-31509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:31499800-31509600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:31499800-31512200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:31499800-31512200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:31499800-31516200	Weak transcription	GM12878-XiMat	blood
14	chr16:31499800-31517200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:31499800-31517400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:31500000-31502000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr16:31500000-31502200	Weak transcription	Brain Angular Gyrus	brain
18	chr16:31500000-31502400	Weak transcription	Colon Smooth Muscle	Colon
19	chr16:31500000-31502600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:31500000-31503000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:31500000-31503000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:31500000-31503000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:31500000-31503200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:31500000-31503400	Weak transcription	NHDF-Ad	bronchial
25	chr16:31500000-31503600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:31500000-31503800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr16:31500000-31503800	Weak transcription	Brain Substantia Nigra	brain
28	chr16:31500000-31504000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr16:31500000-31506400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr16:31500000-31508200	Weak transcription	Primary B cells from cord blood	blood
31	chr16:31500200-31503200	Weak transcription	Psoas Muscle	Psoas
32	chr16:31500200-31503400	Weak transcription	Colonic Mucosa	Colon
33	chr16:31500200-31503400	Weak transcription	HSMM	muscle
34	chr16:31500200-31503800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr16:31500200-31507400	Weak transcription	HMEC	breast
36	chr16:31500200-31508000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:31500200-31508400	Weak transcription	NHEK	skin
38	chr16:31500200-31511400	Weak transcription	NH-A	brain
39	chr16:31500200-31512200	Strong transcription	Fetal Intestine Small	intestine
40	chr16:31500400-31501800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:31500400-31501800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:31500400-31501800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr16:31500400-31503400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:31500400-31505600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:31500400-31507400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr16:31500400-31512200	Strong transcription	NHLF	lung
47	chr16:31500400-31514200	Weak transcription	Fetal Heart	heart
48	chr16:31500400-31518000	Weak transcription	Small Intestine	intestine
49	chr16:31500600-31501800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr16:31500600-31502400	Weak transcription	Osteobl	bone

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