Variant report

Variant	rs61012404
Chromosome Location	chr14:65347649-65347650
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	chr14:65346319-65347765	H1-neurons	neurons:	n/a	n/a
2	REST	chr14:65346792-65347687	H1-neurons	neurons:	n/a	chr14:65346883-65346896 chr14:65347260-65347273 chr14:65347170-65347180 chr14:65346880-65346893
3	MAFK	chr14:65347525-65347657	K562	blood:	n/a	n/a
4	RCOR1	chr14:65345983-65347702	K562	blood:	n/a	n/a
5	MAX	chr14:65346509-65347720	MCF-7	breast:	n/a	n/a
6	GATA1	chr14:65346105-65348005	PBDE	blood:	n/a	chr14:65346999-65347007 chr14:65347950-65347960
7	POLR2A	chr14:65343221-65348246	PBDE	blood:	n/a	n/a
8	HMGN3	chr14:65345858-65347744	K562	blood:	n/a	n/a
9	MAZ	chr14:65345829-65347665	K562	blood:	n/a	n/a
10	HDAC2	chr14:65346460-65347671	MCF-7	breast:	n/a	chr14:65347601-65347609
11	SIN3A	chr14:65346663-65347730	H1-hESC	embryonic stem cell:	n/a	chr14:65346763-65346776 chr14:65346880-65346893
12	POLR2A	chr14:65346480-65347751	H1-neurons	neurons:	n/a	n/a
13	E2F4	chr14:65346881-65347760	MCF10A-Er-Src	breast:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65347033-65347041 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
14	MYC	chr14:65346354-65347660	K562	blood:	n/a	n/a
15	KAP1	chr14:65347221-65347853	HEK293	kidney:	n/a	n/a
16	TBP	chr14:65346512-65347667	K562	blood:	n/a	n/a
17	JUND	chr14:65347285-65347652	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
2	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
3	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
4	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
5	chr14:65346800..65348898-chr14:65351625..65354536,2	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10121	0.86[ASN][1000 genomes]
rs11540871	0.86[ASN][1000 genomes]
rs17102258	0.82[EUR][1000 genomes]
rs17767870	0.82[EUR][1000 genomes]
rs17883073	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17883620	0.82[AFR][1000 genomes]
rs1957416	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2181127	0.82[EUR][1000 genomes]
rs230697	0.83[AFR][1000 genomes]
rs230715	0.82[EUR][1000 genomes]
rs230717	0.81[AFR][1000 genomes]
rs230718	0.82[EUR][1000 genomes]
rs230723	0.82[EUR][1000 genomes]
rs2649194	0.81[AFR][1000 genomes]
rs372933	0.82[EUR][1000 genomes]
rs375038	0.88[AFR][1000 genomes]
rs376295	0.81[AFR][1000 genomes]
rs380741	0.82[EUR][1000 genomes]
rs57319601	0.83[ASN][1000 genomes]
rs57674166	0.86[ASN][1000 genomes]
rs60454817	0.88[AFR][1000 genomes]
rs61538903	0.83[ASN][1000 genomes]
rs62621845	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66511472	0.80[EUR][1000 genomes]
rs66883381	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7144515	0.80[AFR][1000 genomes]
rs7144637	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625638	0.82[EUR][1000 genomes]
rs72625640	0.82[EUR][1000 genomes]
rs72625641	0.82[EUR][1000 genomes]
rs72625642	0.82[EUR][1000 genomes]
rs72625643	0.87[EUR][1000 genomes]
rs72625644	0.87[EUR][1000 genomes]
rs72625645	0.87[EUR][1000 genomes]
rs72625646	0.87[EUR][1000 genomes]
rs72625647	0.87[EUR][1000 genomes]
rs72625648	0.87[EUR][1000 genomes]
rs73279812	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279816	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279823	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279833	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279834	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279839	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73281764	0.83[ASN][1000 genomes]
rs73281765	0.86[ASN][1000 genomes]
rs8019346	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3326676	chr14:65345624-65348172	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
2	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:65345400-65347800	Active TSS	Right Atrium	heart
5	chr14:65345600-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:65345600-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:65345600-65347800	Active TSS	Brain Hippocampus Middle	brain
8	chr14:65345600-65347800	Active TSS	Psoas Muscle	Psoas
9	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr14:65345800-65347800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:65345800-65347800	Active TSS	Right Ventricle	heart
12	chr14:65345800-65348000	Active TSS	Brain Angular Gyrus	brain
13	chr14:65345800-65348200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:65346000-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:65346000-65347800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr14:65346000-65347800	Active TSS	Aorta	Aorta
17	chr14:65346000-65348000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:65346000-65348000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:65346000-65348000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:65346000-65348000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:65346200-65347800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:65346200-65347800	Active TSS	Brain Cingulate Gyrus	brain
23	chr14:65346400-65347800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:65346400-65347800	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr14:65346600-65347800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:65346600-65347800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
27	chr14:65347000-65347800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:65347000-65347800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
29	chr14:65347000-65347800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:65347000-65347800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr14:65347000-65347800	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr14:65347000-65347800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
33	chr14:65347000-65348200	Bivalent/Poised TSS	NH-A	brain
34	chr14:65347200-65347800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr14:65347200-65347800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
36	chr14:65347200-65347800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:65347200-65347800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr14:65347200-65347800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:65347200-65347800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr14:65347200-65347800	Flanking Bivalent TSS/Enh	NHEK	skin
41	chr14:65347200-65348000	Bivalent Enhancer	Fetal Lung	lung
42	chr14:65347400-65347800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr14:65347400-65347800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr14:65347400-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
45	chr14:65347400-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr14:65347400-65347800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr14:65347400-65347800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:65347400-65347800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr14:65347400-65347800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr14:65347400-65347800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links