Variant report

Variant	rs574408449
Chromosome Location	chr16:48420141-48420142
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	USF2	chr16:48419496-48420150	Hela-S3	cervix:	n/a	chr16:48419664-48419680 chr16:48419620-48419636
2	RELA	chr16:48419080-48420188	GM18951	blood:	n/a	chr16:48419975-48419984 chr16:48419975-48419984
3	POLR2A	chr16:48417818-48420233	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:48418793-48420145	GM12892	blood:	n/a	n/a
5	MXI1	chr16:48417724-48420377	IMR90	lung:	n/a	n/a
6	POLR2A	chr16:48420090-48420215	Gliobla	brain:	n/a	n/a
7	MXI1	chr16:48416915-48420285	SK-N-SH	brain:	n/a	n/a
8	RELA	chr16:48419417-48420198	GM19099	blood:	n/a	chr16:48419975-48419984 chr16:48419975-48419984
9	POLR2A	chr16:48417322-48420227	H1-hESC	embryonic stem cell:	n/a	n/a
10	NRF1	chr16:48419088-48420228	SK-N-SH	brain:	n/a	chr16:48419428-48419439 chr16:48419532-48419546 chr16:48419428-48419442 chr16:48419408-48419417 chr16:48419330-48419339 chr16:48419427-48419438 chr16:48419387-48419396 chr16:48419425-48419439 chr16:48419818-48419827 chr16:48419428-48419437
11	POLR2A	chr16:48418837-48420195	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr16:48419244-48420171	H1-hESC	embryonic stem cell:	n/a	chr16:48419361-48419371 chr16:48419711-48419721 chr16:48419419-48419427 chr16:48419311-48419318 chr16:48419408-48419417 chr16:48419311-48419318 chr16:48419418-48419429 chr16:48419377-48419386 chr16:48419311-48419319 chr16:48419418-48419428 chr16:48419419-48419427 chr16:48419429-48419438 chr16:48419311-48419318 chr16:48419311-48419319 chr16:48419334-48419343
13	MAX	chr16:48419264-48420189	H1-hESC	embryonic stem cell:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
14	REST	chr16:48417618-48420246	H1-neurons	neurons:	n/a	chr16:48419132-48419152 chr16:48419130-48419143
15	TCF7L2	chr16:48419048-48420198	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr16:48417727-48420439	HepG2	liver:	n/a	n/a
17	MAX	chr16:48419097-48420152	H1-hESC	embryonic stem cell:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
18	POLR2A	chr16:48418065-48420219	Raji	blood:	n/a	n/a
19	POLR2A	chr16:48418990-48420218	SK-N-SH	brain:	n/a	n/a
20	MAX	chr16:48417765-48420145	A549	lung:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
21	POLR2A	chr16:48417676-48420213	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr16:48417908-48420202	GM12892	blood:	n/a	n/a
23	MAX	chr16:48417658-48420225	HepG2	liver:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
24	POLR2A	chr16:48418383-48420141	GM15510	blood:	n/a	n/a
25	TCF12	chr16:48419194-48420233	A549	lung:	n/a	chr16:48419506-48419513
26	POLR2A	chr16:48417913-48420219	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:48418923-48420166	GM12891	blood:	n/a	n/a
28	POLR2A	chr16:48418992-48420214	K562	blood:	n/a	n/a
29	POLR2A	chr16:48417891-48420192	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr16:48417845-48420217	K562	blood:	n/a	n/a
31	POLR2A	chr16:48417672-48420193	HepG2	liver:	n/a	n/a
32	RELA	chr16:48418969-48420152	GM12891	blood:	n/a	chr16:48419975-48419984 chr16:48419975-48419984
33	MTA3	chr16:48419371-48420238	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
2	chr16:48419382..48420884-chr16:48422551..48425300,2	MCF-7	breast:
3	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:
4	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
5	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
6	chr16:48380431..48382791-chr16:48417861..48420626,2	K562	blood:
7	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:
8	chr16:48419410..48421944-chr16:48545496..48547470,2	MCF-7	breast:
9	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
10	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:
11	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
12	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:
13	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:

Variant related genes	Relation type
SIAH1	TF binding region
ENSG00000102921	Chromatin interaction
ENSG00000102910	Chromatin interaction
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv960007	chr16:48413351-48426696	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
12	nsv572540	chr16:48415611-48423780	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
13	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	esv3521659	chr16:48417776-48420599	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
16	esv3521660	chr16:48417776-48420599	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
17	esv3327230	chr16:48418276-48420824	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
18	esv1836854	chr16:48418505-48440630	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
19	esv1840262	chr16:48418505-48440630	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
20	esv1795074	chr16:48418505-48459558	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	esv1798711	chr16:48418681-48440630	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48416800-48420200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:48416800-48420200	Active TSS	HSMMtube	muscle
3	chr16:48416800-48420400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr16:48417200-48420200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:48417200-48420200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:48417200-48420200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:48417200-48420200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:48417200-48420200	Active TSS	Psoas Muscle	Psoas
9	chr16:48417400-48420200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:48417400-48420200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:48417400-48420200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:48417400-48420200	Active TSS	Fetal Brain Female	brain
13	chr16:48417400-48420200	Active TSS	Fetal Intestine Small	intestine
14	chr16:48417600-48420200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr16:48417600-48420200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:48417600-48420200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:48417600-48420200	Active TSS	Fetal Thymus	thymus
18	chr16:48417800-48420200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:48417800-48420200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr16:48417800-48420200	Active TSS	Placenta Amnion	Placenta Amnion
21	chr16:48417800-48420400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr16:48418000-48420200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr16:48418000-48420200	Active TSS	Colon Smooth Muscle	Colon
24	chr16:48418200-48420200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr16:48418200-48420200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr16:48418200-48420200	Active TSS	Rectal Smooth Muscle	rectum
27	chr16:48419400-48420200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr16:48419600-48420200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr16:48419600-48420200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr16:48419600-48420200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr16:48419600-48420200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr16:48419600-48420200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr16:48419600-48420200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr16:48419600-48420200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:48419600-48420200	Flanking Active TSS	HUVEC	blood vessel
36	chr16:48419600-48420200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr16:48419600-48420200	Flanking Active TSS	Osteobl	bone
38	chr16:48419600-48421200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:48419800-48420200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:48419800-48420200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:48419800-48420200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:48419800-48420200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr16:48419800-48420200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:48419800-48420200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr16:48419800-48420200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr16:48419800-48420200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr16:48419800-48420200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr16:48419800-48420200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr16:48419800-48420200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr16:48419800-48420200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links