Variant report

Variant	rs138097700
Chromosome Location	chr16:81069006-81069007
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	RAD21	chr16:81068931-81069519	HCT-116	colon:	n/a	chr16:81069131-81069138 chr16:81069272-81069281
2	CUX1	chr16:81069004-81069419	K562	blood:	n/a	chr16:81069240-81069249
3	CTCF	chr16:81069006-81069114	GM19240	blood:	n/a	n/a
4	MYBL2	chr16:81068987-81069539	HepG2	liver:	n/a	n/a
5	ZEB1	chr16:81068794-81069558	HepG2	liver:	n/a	chr16:81069123-81069130 chr16:81069280-81069289
6	CTCF	chr16:81068959-81069499	T-47D	breast:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
7	ZEB1	chr16:81068846-81069514	HepG2	liver:	n/a	chr16:81069123-81069130 chr16:81069280-81069289
8	CTCF	chr16:81068247-81070668	SK-N-SH	brain:	n/a	chr16:81069997-81070010 chr16:81069952-81069965 chr16:81069291-81069307 chr16:81069272-81069280
9	CTCF	chr16:81068982-81069564	K562	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
10	CTCF	chr16:81068928-81069486	HepG2	liver:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
11	FOXM1	chr16:81068967-81069554	GM12878	blood:	n/a	n/a
12	CTCF	chr16:81068930-81069505	MCF-7	breast:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
13	POLR2A	chr16:81068857-81071180	H1-hESC	embryonic stem cell:	n/a	n/a
14	HCFC1	chr16:81068860-81070884	Hela-S3	cervix:	n/a	n/a
15	TCF12	chr16:81068966-81069558	A549	lung:	n/a	n/a
16	CEBPB	chr16:81068907-81069337	GM12878	blood:	n/a	chr16:81069173-81069184
17	MAZ	chr16:81068773-81070314	IMR90	lung:	n/a	n/a
18	CTCF	chr16:81068855-81069514	MCF-7	breast:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
19	POLR2A	chr16:81068952-81070107	HepG2	liver:	n/a	n/a
20	MTA3	chr16:81068996-81069428	GM12878	blood:	n/a	n/a
21	CTCF	chr16:81068683-81069533	HCT-116	colon:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
22	RAD21	chr16:81068895-81069552	HCT-116	colon:	n/a	chr16:81069131-81069138 chr16:81069272-81069281
23	RAD21	chr16:81068926-81069555	SK-N-SH	brain:	n/a	chr16:81069131-81069138 chr16:81069272-81069281
24	CTCF	chr16:81068966-81069578	HepG2	liver:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
25	CTCF	chr16:81068900-81069732	K562	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
26	MAX	chr16:81068982-81070527	HepG2	liver:	n/a	n/a
27	CTCF	chr16:81068989-81069486	GM12878	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
28	MYBL2	chr16:81068966-81069586	HepG2	liver:	n/a	n/a
29	SMC3	chr16:81068815-81070491	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr16:81068951-81069524	K562	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
31	CTCF	chr16:81068952-81069561	A549	lung:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
32	MAFK	chr16:81068960-81069394	K562	blood:	n/a	n/a
33	CTCF	chr16:81068973-81069571	GM12878	blood:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
34	TBL1XR1	chr16:81068929-81069481	K562	blood:	n/a	n/a
35	ESRRA	chr16:81068955-81070833	GM12878	blood:	n/a	n/a
36	MXI1	chr16:81068735-81071186	SK-N-SH	brain:	n/a	n/a
37	ZEB1	chr16:81068929-81069607	GM12878	blood:	n/a	chr16:81069123-81069130 chr16:81069280-81069289
38	CTCF	chr16:81068997-81069139	GM19238	blood:	n/a	n/a
39	CTCF	chr16:81068604-81069509	HCT-116	colon:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
40	TEAD4	chr16:81068963-81069440	HepG2	liver:	n/a	n/a
41	REST	chr16:81068973-81070723	H1-neurons	neurons:	n/a	chr16:81069913-81069931 chr16:81069933-81069946
42	BCL3	chr16:81068962-81069496	A549	lung:	n/a	n/a
43	CTCF	chr16:81068844-81070964	A549	lung:	n/a	chr16:81069997-81070010 chr16:81069952-81069965 chr16:81069291-81069307 chr16:81069272-81069280

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81069005-81069055	ECC-1	luminal epithelium:	n/a
2	chr16:81069005-81069055	MCF10A-Er-Src	breast:	n/a
3	chr16:81069005-81069055	CMK	blood:	n/a
4	chr16:81069005-81069055	BE2_C	brain:	n/a
5	chr16:81069005-81069055	HCPEpiC	choroid plexus:	n/a
6	chr16:81069005-81069055	Caco-2	colon:	n/a
7	chr16:81069005-81069055	AoSMC	blood vessel:	n/a
8	chr16:81069005-81069055	HCT-116	colon:	n/a
9	chr16:81069005-81069055	K562	blood:	n/a
10	chr16:81069005-81069055	NH-A	brain:	n/a
11	chr16:81069005-81069055	T-47D	breast:	n/a
12	chr16:81069005-81069055	GM12878	blood:	n/a
13	chr16:81069005-81069055	ProgFib	skin:	n/a
14	chr16:81069005-81069055	H1-hESC	embryonic stem cell:	embryo
15	chr16:81069005-81069055	PFSK-1	brain:	n/a
16	chr16:81069005-81069055	GM06990	blood:	n/a
17	chr16:81069005-81069055	A549	lung:	n/a
18	chr16:81069005-81069055	Jurkat	blood:	n/a
19	chr16:81069005-81069055	HepG2	liver:	n/a
20	chr16:81069005-81069055	GM12891	blood:	n/a
21	chr16:81069005-81069055	AG04449	skin:	fetal
22	chr16:81069005-81069055	HRE	kidney:	n/a
23	chr16:81069005-81069055	HPAEpiC	pulmonary alveolar:	n/a
24	chr16:81069005-81069055	SKMC	muscle:	n/a
25	chr16:81069005-81069055	HCM	heart:	n/a
26	chr16:81069005-81069055	SAEC	small airway:	n/a
27	chr16:81069005-81069055	GM19239	blood:	n/a
28	chr16:81069005-81069055	RPTEC	kidney:	n/a
29	chr16:81069005-81069055	HEK293	kidney:	embryo
30	chr16:81069005-81069055	AG10803	skin:	n/a
31	chr16:81069005-81069055	HIPEpiC	eye:	n/a
32	chr16:81069005-81069055	SK-N-MC	brain:	n/a
33	chr16:81069005-81069055	HRPEpiC	eye:	n/a
34	chr16:81069005-81069055	AG04450	lung:	fetal
35	chr16:81069005-81069055	HL-60	blood:	n/a
36	chr16:81069005-81069055	SK-N-SH_RA	brain:	n/a
37	chr16:81069005-81069055	NT2-D1	testis:	n/a
38	chr16:81069005-81069055	Hela-S3	cervix:	n/a
39	chr16:81069005-81069055	MCF-7	breast:	n/a
40	chr16:81069005-81069055	SK-N-SH	brain:	n/a
41	chr16:81069005-81069055	PANC-1	pancreas:	n/a
42	chr16:81069005-81069055	PrEC	prostate:	n/a
43	chr16:81069005-81069055	HNPCEpiC	eye:	n/a
44	chr16:81069005-81069055	HCF	heart:	n/a
45	chr16:81069005-81069055	Hepatocyte	liver:	n/a
46	chr16:81069005-81069055	GM12892	blood:	n/a
47	chr16:81069005-81069055	NB4	blood:	n/a
48	chr16:81069005-81069055	HEEpiC	esophagus:	n/a
49	chr16:81069005-81069055	HRCEpiC	kidney:	n/a
50	chr16:81069005-81069055	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81068890..81071040-chr16:81770218..81773249,4	MCF-7	breast:
2	chr16:81068964..81069731-chr16:81231614..81232947,4	MCF-7	breast:
3	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
4	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:
5	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
6	chr16:81061882..81066764-chr16:81067446..81071538,9	MCF-7	breast:
7	chr16:81068894..81069816-chr16:81231960..81232923,14	MCF-7	breast:
8	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
9	chr16:81039925..81040655-chr16:81068862..81069785,3	MCF-7	breast:
10	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
11	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:
12	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
13	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
14	chr16:81051240..81053871-chr16:81067800..81070435,3	K562	blood:
15	chr16:81068976..81069841-chr16:81110418..81110934,2	MCF-7	breast:
16	chr16:81056962..81059865-chr16:81068197..81070898,3	K562	blood:
17	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
18	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
19	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
20	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
21	chr16:81068843..81069464-chr16:81129450..81130206,2	MCF-7	breast:
22	chr16:81055761..81058462-chr16:81067542..81069697,2	K562	blood:
23	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
24	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:

Variant related genes	Relation type
ATMIN	TF binding region
ATMIN	CpG island
ENSG00000261218	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000261061	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000153815	Chromatin interaction
ENSG00000197943	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000166455	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv995083	chr16:81050917-81076406	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers 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	32 gene(s)	inside rSNPs	diseases
11	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv1802804	chr16:81061827-81070110	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv1838483	chr16:81061827-81070110	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv1841728	chr16:81061827-81070110	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv3374530	chr16:81068676-81071224	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:81053000-81069400	Weak transcription	Aorta	Aorta
4	chr16:81055200-81069400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81055200-81069600	Weak transcription	Spleen	Spleen
6	chr16:81055400-81069200	Weak transcription	NHLF	lung
7	chr16:81055600-81069400	Weak transcription	Gastric	stomach
8	chr16:81055600-81069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:81055800-81069400	Weak transcription	Left Ventricle	heart
10	chr16:81055800-81069600	Weak transcription	HSMMtube	muscle
11	chr16:81056200-81069600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:81057000-81069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:81057600-81069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:81057800-81069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:81061000-81069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:81062200-81069200	Weak transcription	HSMM	muscle
17	chr16:81062600-81069600	Weak transcription	Primary T cells from cord blood	blood
18	chr16:81062600-81069600	Weak transcription	NH-A	brain
19	chr16:81062800-81069200	Weak transcription	Osteobl	bone
20	chr16:81062800-81069600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr16:81062800-81069600	Weak transcription	NHDF-Ad	bronchial
22	chr16:81063800-81069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:81064000-81069200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:81064000-81069200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:81064000-81069600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:81064000-81069600	Weak transcription	Fetal Thymus	thymus
27	chr16:81068200-81069200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:81068600-81069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:81068800-81069200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr16:81068800-81069200	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr16:81068800-81069200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:81068800-81069200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr16:81068800-81069200	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr16:81068800-81069400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:81068800-81069600	Enhancers	Primary B cells from peripheral blood	blood
36	chr16:81068800-81070400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr16:81068800-81070400	Active TSS	Brain Hippocampus Middle	brain
38	chr16:81068800-81071200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr16:81069000-81069200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr16:81069000-81069200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:81069000-81069200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
42	chr16:81069000-81069200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr16:81069000-81069200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr16:81069000-81069200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr16:81069000-81069200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr16:81069000-81069200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr16:81069000-81069200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:81069000-81069200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:81069000-81069200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:81069000-81069200	Flanking Active TSS	Primary B cells from cord blood	blood

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